You are probably right about the limited benefits of curing diseases through genomic research, at least in the near future. But I was startled by what you said about cancer. Many cancers are curable now, if caught in the early stages, that were virtual death sentences 40 years ago. And with the exception of lung cancer, these cancers have been cured through advanced medical techniques and not through behavioral changes.
5
"The push toward precision medicine could also lead to unintended consequences based on how humans respond to perceptions of risk."
Indeed. Look at how humans have responded to perceptions that pills and medical interventions can avoid the consequences of slothfulness and gluttony vis a vis diabetes, heart disease and cancer.
The last thing Americans need is for modern medicine to give them further absolution for bad habits; to tell them their health problems are a matter of genetic disparities, easily resolvable with targeted therapies.
Because we have the freedom to exercise not insignificant control of the environment in which our bodies must exist, through what we eat and what we do and so on, it is our responsibility to provide it a healthy one. When it comes to health, genes matter. But environment matters at least as much, and it is the only thing we know we can change.
Indeed. Look at how humans have responded to perceptions that pills and medical interventions can avoid the consequences of slothfulness and gluttony vis a vis diabetes, heart disease and cancer.
The last thing Americans need is for modern medicine to give them further absolution for bad habits; to tell them their health problems are a matter of genetic disparities, easily resolvable with targeted therapies.
Because we have the freedom to exercise not insignificant control of the environment in which our bodies must exist, through what we eat and what we do and so on, it is our responsibility to provide it a healthy one. When it comes to health, genes matter. But environment matters at least as much, and it is the only thing we know we can change.
2
I propose we put our funding of basic research (including biotechnology) in perspective, which Dr. Joyner and a few of the writers have only approached indirectly. We are spending extremely little compared to our past (pre Reagan) as measured by all basic research as a percentage of our GDP. As Steve Rattner has pointed out many times, before 1980, we were consistent with other western democracies in spending ~ 7% of our GDP on basic research. We are at ~ 2.5% today. Our competitors, including France, Italy, Germany, the UK, Japan, and China, have maintained a level of spending ~7%.
While the current know-nothings of the Republican Party bear significant responsibility, Democrats have not reversed this trend when they have been in power, nor have they made this a major point of opposition to the Republicans since the 1980s.
During the Iraq War, I was fond of pointing out that the combined annual budgets of the NIH, NSF, and FDA were equivalent to a few days of the war's cost. Each of the four rounds of Live-Strong bracelet fund raisers nationally raised about 90 minutes worth of expenditure for that war.
While the current know-nothings of the Republican Party bear significant responsibility, Democrats have not reversed this trend when they have been in power, nor have they made this a major point of opposition to the Republicans since the 1980s.
During the Iraq War, I was fond of pointing out that the combined annual budgets of the NIH, NSF, and FDA were equivalent to a few days of the war's cost. Each of the four rounds of Live-Strong bracelet fund raisers nationally raised about 90 minutes worth of expenditure for that war.
14
After we're dealt our genes @ conception, it's up to us (that dreaded word "responsibility"), to have our "primary care-giver"/mother, hopefully, to first feed us & then cede the reins to us, a Mediteranean diet/exercise regime, that sustains a healthy & fun lifestyle, for the next 90 - 100 years !
2
"Moonshot" was first used in '69 in medical research when the "war on cancer" was pitched to Nixon. The National Cancer Act was signed, pledging $1.5 billion to cancer research, but the idea of open-ended research was similarly criticized (by scientists, no less) as a big waste of money. And yet, since the 60s, survival rates for childhood ALL have steadily improved each decade from 10% to a current 90%.
Leukemia killed all of its victims for thousands of years up until the 1960s, but now 9 out of 10 children live on. This does not sound like cancer outcomes have remained stubborn since the first moonshot 45 years ago.
Leukemia killed all of its victims for thousands of years up until the 1960s, but now 9 out of 10 children live on. This does not sound like cancer outcomes have remained stubborn since the first moonshot 45 years ago.
10
One of the few bright spots at the beginning of my treatment for breast cancer was when the doctor explained that after my surgery I would be able to take a new drug specifically targeting my cancer's receptors. It made me feel more positive at the time, and six years later I think the advances being made in genetically targeted drugs is wonderful and needs to continue.
17
one of the unbright spots in my cancer experience was finding there is pretty much no treatment for mine. Being a rare cancer it hasn't "paid" to bother with it. Whatever chemo I might have been given would have been without the benefit of trials etc. I am 3.5 years in and lucky so far. If I get unlucky, I understand I will be really unlucky.
Maybe some more basic research to understand how these things happen would help. Instead of narrowing the research, maybe it could be broadened as not everyone has breast cancer.
Maybe some more basic research to understand how these things happen would help. Instead of narrowing the research, maybe it could be broadened as not everyone has breast cancer.
4
Personalized Medicine is not 'Moonshot' medicine. It is the logical progression that comes with an ever deeper understanding of the fascinating biology of higher organisms, to which humans reportedly also belong. Although that is hard to believe, reading some of the headlines, even in our more respected news outlets.
Personalized medicine merely means that with increasing knowledge we can better and better identify individuals in which a certain therapy is not or less likely to work than in others, because of their genetic or -increasingly- epigenetic makeup. That is not a 'moonshot' in the sense that we are reaching for breakthroughs that make us immortal. It is not a panacea, but it is a prudent and practical way of making medicine more efficient and less costly. Think of it as instead of treating 100% of the patients with a costly therapy, we now treat only the 10% who actually benefit. That saves us 90% of the cost.
However, if you consider the wonders the microscopic universe, which includes the workings of the human body, has to offer, then digging into this universe and translating the new knowledge into practical applications can be considered a 'moonshot'.
And that's exactly what we should be doing.
Personalized medicine merely means that with increasing knowledge we can better and better identify individuals in which a certain therapy is not or less likely to work than in others, because of their genetic or -increasingly- epigenetic makeup. That is not a 'moonshot' in the sense that we are reaching for breakthroughs that make us immortal. It is not a panacea, but it is a prudent and practical way of making medicine more efficient and less costly. Think of it as instead of treating 100% of the patients with a costly therapy, we now treat only the 10% who actually benefit. That saves us 90% of the cost.
However, if you consider the wonders the microscopic universe, which includes the workings of the human body, has to offer, then digging into this universe and translating the new knowledge into practical applications can be considered a 'moonshot'.
And that's exactly what we should be doing.
10
Obama's budget of a few hundred million dollars for precision medicine is only about one percent of federal spending on medical research, which in turn is only about one percent of total federal spending. We need more federal spending to increase aggregate demand, employment, and economic equality. Congress should spend more on the poor and on infrastructure and should increase spending on research in all areas of science by 20 percent per year for the several years. If Congress continues its 50-years of restraint on support of science, we may find in a decade or two that India or China has taken the lead and that Chinese is the language of science.
5
Joyner should take some time off from writing pessimistic articles like this, and instead start reading the biomedical literature. There are now a good number of diseases that can be directly tied to certain diseases, cystic fibrosis being just one of them (the gene was discovered by Francis Collins, current NIH Director, and therapeutic drugs more recently, for a subset of CF cases). And certain gene therapies have indeed been successful. One particularly striking example is the work of Jean Bennett and her husband Al Maguire done at Philadelphia Children's Hospital, who have treated blindness caused by mutations in the gene RP65 in the retina. Using a viral vector to carry the RP65 gene which was injected into the RPE cells of the retina, their research group has obtained cures for RP65 blindness in many children, and other labs in the world are doing the same now. Bennett and her colleagues first did the basic molecular biology of the gene research in mice, and then on a dog which had the same RP65 mutation as humans. You can hear/see the entire story (video) from Jean Bennett herself, on the web. Just google her. There will be more cures for blindness by gene injection of other genes in the future, and stem cell research will also ultimately provide cures.
No reason for pessimism. Just give the researchers the money they need, and let them work. This is precision, well thought-out research. No moonshots required.
No reason for pessimism. Just give the researchers the money they need, and let them work. This is precision, well thought-out research. No moonshots required.
9
There most certainly have been advancements in cancer research +cures in the last few decades, both of which are starting to show stunning results. The 1st is certainly "moonshot"medicine that works: "CAR-T" individualized cancer immuno-therapy. And the 2nd is marijuana, as Dr. Sanjay Gupta pointed out at the end of his "Weed" documentary on the healing benefits of cannabis/hemp, even probably curing some cancers.
First, CAR-T (chimeric antigen receptors for T-Cells) and Cancer Immunotherapy: Quite simply, doctors remove the patient's blood, and treat it so that the immune system and T-Cells recognize + attack the cancer, killing it. This technique has been used successfully to eradicate malignant melanoma (extremely aggressive skin cancer) + the most deadly kinds of leukemia, curing 27 of 30 in an initial study, with subjects who had been resistant to all previous treatment! Furthermore, I personally know of a similar treatment being used on a relative as an experiment approximately 25-27 years ago, to successfully cure malignant melanoma along with surgery! Using immunotherapy to treat melanoma is now commonplace! What could govt do? Speed up more the approval process for these drugs, as cancer's deadly.
Also, there is the subj of using weed to cure cancer. The govt must allow all study +really should just end all drug prohibition + prescription even +let people, along with a doctor if we so choose, decide how best to heal + cure ourselves! We have human rights!
First, CAR-T (chimeric antigen receptors for T-Cells) and Cancer Immunotherapy: Quite simply, doctors remove the patient's blood, and treat it so that the immune system and T-Cells recognize + attack the cancer, killing it. This technique has been used successfully to eradicate malignant melanoma (extremely aggressive skin cancer) + the most deadly kinds of leukemia, curing 27 of 30 in an initial study, with subjects who had been resistant to all previous treatment! Furthermore, I personally know of a similar treatment being used on a relative as an experiment approximately 25-27 years ago, to successfully cure malignant melanoma along with surgery! Using immunotherapy to treat melanoma is now commonplace! What could govt do? Speed up more the approval process for these drugs, as cancer's deadly.
Also, there is the subj of using weed to cure cancer. The govt must allow all study +really should just end all drug prohibition + prescription even +let people, along with a doctor if we so choose, decide how best to heal + cure ourselves! We have human rights!
3
Hey, the moonshot was a "moonshot"
3
Dr. Joyner criticizes the funding of a new program in “precision medicine” because the Human Genome Project has not identified any gene whose mutations have a significant impact on the risk of a common disease. This was perhaps inevitable, since the HGP relies on mass sequencing of DNA and and supercomputers to identify such genes.
Dr. Mary-Claire King identified the BRCA loci using conventional linkage analysis of families selected according to her research design. We found that mutations in the ataxia-telangiectasia gene increase the risk of breast cancer for carrier women almost four-fold. We also found, with equally rigorous genetic analysis, wolframin mutations made carriers seven-fold more likely to develop severe depression. Such excess risks significantly affect diagnosis and treatment of carrier individuals.
Many other genes important in common diseases can be found using established scientific principles and methods, rather than implementing another massive “pie-in-the-sky” scheme.
Michael Swift MD
Scarsdale NY
Dr. Mary-Claire King identified the BRCA loci using conventional linkage analysis of families selected according to her research design. We found that mutations in the ataxia-telangiectasia gene increase the risk of breast cancer for carrier women almost four-fold. We also found, with equally rigorous genetic analysis, wolframin mutations made carriers seven-fold more likely to develop severe depression. Such excess risks significantly affect diagnosis and treatment of carrier individuals.
Many other genes important in common diseases can be found using established scientific principles and methods, rather than implementing another massive “pie-in-the-sky” scheme.
Michael Swift MD
Scarsdale NY
5
Not sure where the author got the idea that "precision medicine" is entirely based on genetic testing, and can't use other variables (including environmental factors) to better target treatments?
1
Goes to show you Obama is a really great orator but doesn't know what he is talking about and all we have is the Republicans to counter him. Do you think God could help?
1
Immunology and the microbiome are inter-related areas of research that will have a greater impact than genomics in coming years on medicine/health. The immune system is designed to deal with the complexity that underlies disease, and is balanced through interactions with our microbiomes that are only now becoming evident. Personalized medicine is based on a false assumption that we can distill disease into simple problems that can be easily addressed if only we were smart enough to understand them. Our immune systems have evolved to deal with the complexity that truly underlies most disease, and more broadly seeing disease as a failure or defect of immunity offers the greatest promise for progress. This new perspective is reflected in "immuno-oncology" therapies for cancer; similar advances will be seen by applying this approach to other diseases. Such therapies will be approved this year for lung cancer, leading to cures for patients with advanced disease that until very recently equated to a death sentence. Witness the money being pumped into this area by all the major drug companies. Just in the last few days, even the CEO of Roche/Genentech, the leader in targeted biologics, trotted out immunotherapy as the "sleight-of-hand" promise for the future to cover less-than-stellar, end-of-2014 financials. We do need to fund more basic research, but selectively pumping more money into genomics is a rabbit hole that most major pharmaceutical companies already are avoiding.
2
Excellent article. A lot more bang for he buck can be obtained by financing universal primary care and simple projects like generic medications for blood pressure control than genetically targeted therapies. Precision medicine sounds good, but the greater the precision, the more uncertain the result. Validation of a therapy is rarely possible by treating a few cases only. Considering the immense genetic variability of the human body, the duration and cost of developing such therapies becomes astronomic. That's the last thing our bankrupt economy needs.
2
Many of the commenters perhaps miss the point that Dr. Joyner indeed supports basic biomedical research. His argument is where to direct any increase funding, not whether and is merely expressing skepticism that the outcomes will meet the stated goals.
Of course there will be beneficial unintended discoveries, unrelated to the stated goals. Those "side effects" are the consequence of any basic biology research. The real question is whether those side effects lead to improvements against the common diseases without clear genetic causes and whether the precision medicine initiative is the more effect way to go after those diseases.
Of course there will be beneficial unintended discoveries, unrelated to the stated goals. Those "side effects" are the consequence of any basic biology research. The real question is whether those side effects lead to improvements against the common diseases without clear genetic causes and whether the precision medicine initiative is the more effect way to go after those diseases.
I don’t sense Joyner arguing against basic research, only against precision medicine’s preferred approach: the directionless megaproject. The racket works like this. A network of collaborating labs engages in a vast data collection exercise, the endpoint of which is a self-referential benchmark, the 10,000th genome, every cell in the brain, whatever. No hypothesis is at stake - too risky. Instead, with a pre-agreed limit of data collection that's guaranteed to be achieved, the success rate is 100%. (“We reached the last base!”) The supposition is that facts inarticulable in advance, but surely of great importance, will drop out of the data. Never happens, but by then the next megaproject has started and the paying public’s chit with the promised breakthrough is past its expiry date.
Directionless megaprojects would be a harmless incineration of money, except hypothesis-driven research gets shoved aside. A shame, because a genuine discovery still and always begins as a flash of understanding in a single mind. But the top-down MBA-style approach to research leaves no space for a monk tending his peas, a British doc with his moldy petri plate, a crazy lady in her cornfield, an assistant examiner in the Swiss Patent Office whose ideas about the universe turn physics upside down. I miss them.
Directionless megaprojects would be a harmless incineration of money, except hypothesis-driven research gets shoved aside. A shame, because a genuine discovery still and always begins as a flash of understanding in a single mind. But the top-down MBA-style approach to research leaves no space for a monk tending his peas, a British doc with his moldy petri plate, a crazy lady in her cornfield, an assistant examiner in the Swiss Patent Office whose ideas about the universe turn physics upside down. I miss them.
5
Your fighting the iron laws of economics, dude. The profit in creating knowledge that leads to effective anti-smoking campaigns, which can't easily be turned into a "property", is minimal while a fortune can be made with an effective medical device or drug. Frankly its amazing that anyone is stupid enough to waste their time devising approaches that ignore the truths and wisdom of the free market. I blame our educational system and the failure to teach economics and finance in our elementary schools, no doubt due to the influence of socialists in our schools. If you want this kind of medical research Mr. Joyner go to Cuba.
1
I applaud Dr. Joyner redirecting our attention to perhaps the biggest challenge our health infrastructure (and that bottomless checkbook we seem to have for our health care costs): behaviors and lifestyles leading to obesity and a long list of related, devastating, chronic diseases like diabetes, cancer, and heart disease.
I would make a minor quibble about the last sentence and how much control we have over exercise and our diet. Research shows clearly that the context in which one makes choices about diet and physical activities (what choices are available to you when and for how much) are key. It's time to look closely at the "messy problem" of our failure to invest in initiatives that would make our neighborhoods, schools, workplaces, and transportation more supportive of healthier food and activity choices.
I would make a minor quibble about the last sentence and how much control we have over exercise and our diet. Research shows clearly that the context in which one makes choices about diet and physical activities (what choices are available to you when and for how much) are key. It's time to look closely at the "messy problem" of our failure to invest in initiatives that would make our neighborhoods, schools, workplaces, and transportation more supportive of healthier food and activity choices.
2
Do not worry, everyone. People engaged in research do not care what the program label or even its mission is. They simply want to pursue whatever it is that they're either already doing, or would like to do. If this sounds cynical, my observations are first-hand. A lay person would be astonished to see how many near-totally unrelated projects have been sold on the cancer cure platform. Yes, the way we do this is inefficient and biased strongly toward existing academic status, to the exclusion of potentially useful work from 'outside'. However, the bottom line is getting some money sprayed in the general direction of medicine, as this will almost certainly yield something. Very specific 'moonshot' or targeted work is something the government is extremely bad at lately, for a host of reasons, but given a reasonably wide cash dispersion, there's bound to be an opening for the breakthrough stuff.
The author seems to miss the limitations of sequencing one genome - as in what the Human Genome Project accomplished. Everyone that understands genetics realizes that population level genome sequencing is the missing link. He mentions sequence variants but large scale genome-wide-association studies where thousands of individual genomes are sequenced and compared are required to statistically determine which of each individual's set of millions of variants are associated with or determine risk levels and disease progression. Until only very recently this was economically impossible and only a small set of a patient's genetic variants could be compared to a reference genome - this paints a very blurry picture indeed. It would be irresponsible to base so called precision medicine on this approach. Yet we are very much at the beginning of a long road to fully understanding how our genomes function and how genome-wide, population level information can break through the various challenges the author identifies. A revolution in sequencing technology is happening (similar to the advent of microprocessors decades ago) and the price of sequencing a genome has dropped from billions 15 years ago for the HGP to a few thousand dollars today. To attack this line of research when the tools needed to make genomic information are finally here is misguided.
2
Ah, yes. The check is in the mail.
We have known about Huntington's disease gene for over 20 years. Despite fairly generous funding, devoted researchers, and industry interest, there is no disease modifying treatment for it or one on the horizon.
The idea that genomic data gives rise to easy and cheap fixes is, indeed, a false one. Further, the idea that personal genomic data has much predictive power for the general population is a marketing lie, which should be criminal. And the idea that our society should put devote resources to it to the exclusion of other lines of inquiry is dangerous.
The idea that genomic data gives rise to easy and cheap fixes is, indeed, a false one. Further, the idea that personal genomic data has much predictive power for the general population is a marketing lie, which should be criminal. And the idea that our society should put devote resources to it to the exclusion of other lines of inquiry is dangerous.
1
The musings in this article aren't even wrong.
1
I am bothered by the failure to take into account the relative scale of President Obama’s initiative for personalized medicine. Dr. Joyner is a prolific researcher, but he is focused on exercise physiology, not genetics. No one doubts that more exercise would help a great many people, but there has to be research on the many disorders—ranging from cancer to inherited diseases—that are not cured by exercise. Remember that the cost of healthcare in the United States is about $3.8 trillion. The total NIH budget is less than 1% of this—about $30 billion—and it has declined in real dollars by 20% in the last 10 years. The president’s initiative of a few hundred million is perhaps 1% of the NIH budget, or 0.01% of the cost of health care. Surely we can afford a hundredth of a percent to pursue some of the most exciting biomedical research to emerge from the human genome project, research which does indeed have the potential to revolutionize healthcare for at least a fraction of diseases. The real problem is the scale of the overall research budget in comparison to healthcare costs. No modern company could survive on an R&D budget of 1%.
18
There is no greater "fix" for most Americans than living more active, less sedentary lifestyles and eating healthier, home prepared, fresh foods. I understand that not all can do this, but, excuse making aside, most can. It takes effort, a word that is rapidly becoming anathema to most. As many posters have pointed out, genetic based medicine and cures are not going to happen in the near future, and most diseases afflicting us are polygenetic and significantly influenced by lifestyle and choice.
1
The author has a valid point, but avoids discussing the real reasons for this new initiative. Medical research is a big business, both for the biotech industry and for many medical schools and universities. These entities lobby for their interests. "Personalized medicine" appeals to academia and biotech because it requires expensive research that will lead to expensive treatments; because of this broad appeal it has a chance to attract support from both political parties. Furthermore it is directly related to the narrow research interests of the current NIH director, who has had a career based on the investigation of genetic disease, little or no experience with running a lab that is dependent on NIH funding, and no apparent interest in the possibility that "missing heritability" might pose a challenge to genetics.
Nevertheless the "personalized medicine" initiative could have a positive impact. The "war on cancer" did not eliminate cancer, but it sparked an explosion of knowledge that has had a profound impact on medicine and biology. Its impact was enormous because so much of the work it supported was basic research, which means research that aimed to understand the biology of cells and cancer, rather than merely to treat cancer. The new initiative could help to sustain this progress, if it provides adequate funding for basic research, including research that challenges the assumptions of the NIH director and the narrow concepts that dominate his field of research.
Nevertheless the "personalized medicine" initiative could have a positive impact. The "war on cancer" did not eliminate cancer, but it sparked an explosion of knowledge that has had a profound impact on medicine and biology. Its impact was enormous because so much of the work it supported was basic research, which means research that aimed to understand the biology of cells and cancer, rather than merely to treat cancer. The new initiative could help to sustain this progress, if it provides adequate funding for basic research, including research that challenges the assumptions of the NIH director and the narrow concepts that dominate his field of research.
15
Outstanding article. So many things are blamed on genetics because folks don't want to own up to the consequences of their own learned behavior, and the medical establishment is too timid to tell them. Plus, mention a genetic component to medical research of any type and funding is more likely to occur.
2
I'm sorry but the author is way off base here. Take Nixon's so-called "War on Cancer," the 1971 act to "wipe out cancer" in our lifetimes. Yes, cancer is still with us but the rewards from that investment has yielded enormous insights as to the functioning of biological systems, begot the study of molecular biology, spawned the field of biotechnology and oh yes, dramatically increased out understanding of the nature of cancer. There is nary a paper in biology or medicine published today whose techniques stem directed from that investment in the 70's. Whether Precision Medicine is actually realized is quite besides the point. One of the great jewels of the United States that is our academic research infrastructure in the sciences is withering under the boot of Sequestration and Congressional neglect. What is needed is a massive injection of money and in whatever guise it comes, sobeit.
3
I have relatively common problem that usually goes undiagnosed. Parathyroid disease affects 1 in 500 people on estimate. In my search for information about my condition I was discouraged to see an enormous amount of literature was produced in Italy, UK, Sweden, Japan, Australia but almost no research is being done in the US. We seem to be falling behind in many areas by assuming that the answers in medicine rely on genetics.
As a physician and a scientist, I disagree with the author on a number of points. In many areas of clinical medicine, "precision medicine", or using genetic testing to inform patient treatment and prognosis, is already the standard of care and has wrought unambiguous benefits for patients. In particular, the author's claim "There have also been positive reports about precision therapies for specific genetic defects in cancer, but it’s difficult to design clinical trials to test this strategy in a large number of patients. " is extremely misleading, giving the impression that application of precision medicine in cancer care is a fringe research topic. Testing for specific acquired genetic variants in cancer and using this information to guide therapy is now an established tenet of management of a number of cancer types as exemplified by genetic testing and treatment strategies for non-small cell lung cancer.
Precision medicine is not a "moonshot", it is the current reality of clinical practice in many fields. This will only grow in the future. It is important that we as a society set aside resources to continue this growth and harness these exciting new technologies for patient benefit.
Precision medicine is not a "moonshot", it is the current reality of clinical practice in many fields. This will only grow in the future. It is important that we as a society set aside resources to continue this growth and harness these exciting new technologies for patient benefit.
19
Dr Joyner is missing the boat from the first sentence. He complains that the few hundred million dollars added to the budget for funding what in actuality is basic science research will be wasted. Economists agree that every dollar spent by the government on basic science research not only pays for itself but brings back significant economic gains for society as a whole. This is independent of the potential gain in our understanding of treating some diseases. Considering how much we spend on things that do not provide any return this should be a no-brainer.
1
Dr. Joyner's opinion piece is both self-serving and specious. Neither his institution nor his clinical specialty are significant figures in the rapidly expanding world of molecular medicine. Of course, maintaining (and funding) the status quo seems most palatable to him. The data he cites rather opaquely on cancer incidence completely ignores clear cut data on overall improvement in cancer mortality rates. Whether targeted cancer therapies account for any of this decline is questionable. But what isn't questionable is the enormous impact these therapies have had on thousands of patients lives and those of their families, even if these therapies weren't permanent cures. The argument that because molecularly guided treatment and prevention ("precision medicine") is not going to be the same type of low hanging fruit that the introduction of antibiotics were in the early twentieth century, we should just abandon these efforts, seems just the type of pernicious cynicism that I find rife within the medical establishment. Rest assured, it won't be individuals like Dr. Joyner who advance us as a species. It will be people like Francis Crick, like Eric Lander, and Craig Venter.
2
Finally!!! Finally!!! Congratulations to Dr. Joyner and TNYT for writing and allowing to be published, respectively, an Op-Ed that reflects the objective reality of the clinics and the laboratory bench. The "precise medicine" concept is in reality a concealed welfare program, this time directed to the reductionist research community and the manufacturers of equipment to do the sequencing. With no exception, Dr. Joyner hit all the nails in this coffin. The "precise medicine" pipedream is designed to combat unemployment (who could be against this noble goal... right?). It has nothing to do with "better mechanistic understanding of diseases" nor treatment for patients. As a precedent, after billions of tax-payers' dollars spent, we'll find ourselves acknowledging what we are now acknowledging with the push for irradiating women with mammograms. Bravo, Michael!!!
2
Science provides the best currently available natural explanation along with the best currently available information. It is always provisional and incomplete.
We can not explain the nature of the 96% of physical reality that lies hidden in dark matter and dark energy. And the 4% of reality that we know is divided by relativity and quantum mechanic theories. When physics and math are beyond our comprehension biology and genes and DNA are akin to magic.
The limits of our knowledge aka ignorance is often hard for scientists to accept and for civilians to understand.
We can not explain the nature of the 96% of physical reality that lies hidden in dark matter and dark energy. And the 4% of reality that we know is divided by relativity and quantum mechanic theories. When physics and math are beyond our comprehension biology and genes and DNA are akin to magic.
The limits of our knowledge aka ignorance is often hard for scientists to accept and for civilians to understand.
1
I believe that genetics will ultimately have a major impact on diagnosis and treatment.
However, I also agree that what we eat, drink and smoke and how much we exercise are major factors under our control. The problem is that our health insurance particularly, Medicaid and Obamacare, let us off the hook for our abuses of these variables. Until that changes our health care costs will continue to increase.
Imagine what our auto insurance rates would be if we operated on the came principle!
However, I also agree that what we eat, drink and smoke and how much we exercise are major factors under our control. The problem is that our health insurance particularly, Medicaid and Obamacare, let us off the hook for our abuses of these variables. Until that changes our health care costs will continue to increase.
Imagine what our auto insurance rates would be if we operated on the came principle!
Well meaning, but essentially ignorant, notions about what research should be funded by the government have not only shown poor results but have sometimes created an orthodoxy as to which research to fund that is inimical to originality in research..
The same paternalistic worries were raised about direct-to-consumer genetic testing: that people would freak out and make bad decisions if given too much information for their poor little brains to comprehend. As the millions of 23andme customers have now shown, this is not true.
Just because it's hard, doesn't mean you shouldn't try.
Just because it's hard, doesn't mean you shouldn't try.
2
The slash, burn and poison cancer treatsments may be effective in some cases but life extension and quality of life are still issues.
Translational Medicine may be the right direction but only time will tell.
In the area of Alzheimer's we are now able to grow the disease in a petri dish and test thousands of treatments before going to human trials using genes and stem cells.
I don't think we should support accidental medicine, unnecessary pharmaceuticals, nor surgeries. This research is fiscally wise in the longview of the CBO.
You may be right? Behavior study is certainly a priority.
However, if we don't shoot for the moon we are settings our goals too low.
Translational Medicine may be the right direction but only time will tell.
In the area of Alzheimer's we are now able to grow the disease in a petri dish and test thousands of treatments before going to human trials using genes and stem cells.
I don't think we should support accidental medicine, unnecessary pharmaceuticals, nor surgeries. This research is fiscally wise in the longview of the CBO.
You may be right? Behavior study is certainly a priority.
However, if we don't shoot for the moon we are settings our goals too low.
1
Dick Rowe, a Decca Records executive turned down a chance to represent The Beatles in 1962 stating: "Groups are out. Four-piece groups with guitars particularly are finished."
Okay, so Dr. Joyner has an opinion. Thanks for sharing!
Still under ten year's old, today's genomic testing can indicate that some of us have polymorphisms associated with how we generate glutathione, the body's "master detoxifier." Targeted research here would help us understand, for example, why some people are more susceptible to carcinogens while others can smoke their entire lives and die of old age. Genomic testing can show us if an individual has an MTRR mutation that may limit their body's ability to recirculate B12 -- thereby contributing to various dementias and neurological issues. MTHFR mutations play a part in homocysteine levels, a key component of heart disease. Genomic testing can show us who has SNPs that affect their neurotransmitter production, leading them to "self-medicate" in an unconscious attempt to balance an internal imbalance.
All of these, of course, would likely point us toward disease prevention (through nutritional "work-arounds"), rather than drug treatment -- and thus seem unlikely to get robust investigation if pharmaceutical companies are calling the shots.
Okay, so Dr. Joyner has an opinion. Thanks for sharing!
Still under ten year's old, today's genomic testing can indicate that some of us have polymorphisms associated with how we generate glutathione, the body's "master detoxifier." Targeted research here would help us understand, for example, why some people are more susceptible to carcinogens while others can smoke their entire lives and die of old age. Genomic testing can show us if an individual has an MTRR mutation that may limit their body's ability to recirculate B12 -- thereby contributing to various dementias and neurological issues. MTHFR mutations play a part in homocysteine levels, a key component of heart disease. Genomic testing can show us who has SNPs that affect their neurotransmitter production, leading them to "self-medicate" in an unconscious attempt to balance an internal imbalance.
All of these, of course, would likely point us toward disease prevention (through nutritional "work-arounds"), rather than drug treatment -- and thus seem unlikely to get robust investigation if pharmaceutical companies are calling the shots.
3
It is good to fund all this fancy stuff like 'precision medicine'.
This should not he at the cost of funding cuts by the NIH on multiple other medical issues which benefit millions.
It appears to me that the NIH chief (a genome medicine guy) is pushing for his own agenda.
This should not he at the cost of funding cuts by the NIH on multiple other medical issues which benefit millions.
It appears to me that the NIH chief (a genome medicine guy) is pushing for his own agenda.
3
I worked a few years at a genetics start-up as a statistician, analyzing and mining association between common diseases and genes. I left the company in part because I felt the researchers were trying too hard as in "If you torture the data long enough, it will confess to anything". I saw first-hand the small effect size of the genetic component and the strong gene-environment interaction the author points out. I was and still am doubtful of the so-called personalized medicine. That said, I support more research funding in this area. Scientific research is not a straight shot between initial hypothesis to a clear solution of a real-life problem. The solution most likely come from insight from many efforts including wrong turns and surprises. The expectation that all research efforts must result in solution to a problem in the short term likely contributes to research bias. Reality or truth is independent of our opinion, we are better off trying to understand the reality as it is. To do that, we need the resources and freedom to state what we find as objectively as possible.
19
Why do we have cognition? That's a question for which there is not an answer, but since we have it, it has always been our goal to learn.
We've learned about the workings of quanta, about what happens near a black hole or the beginning of the universe, about the bottoms of our oceans. And we still seek to learn more about those things.
Certainly understanding the workings of our own physical beings is an equally worthy endeavor.
We've learned about the workings of quanta, about what happens near a black hole or the beginning of the universe, about the bottoms of our oceans. And we still seek to learn more about those things.
Certainly understanding the workings of our own physical beings is an equally worthy endeavor.
1
The President's vision for precision medicine is far greater than the War on Cancer. Genentech's drug that targets HER2 positive breast cancer is the perfect example of how personalized medicine can, and is, working. There are plenty of obstacles to applying personalized medicine to other cancers and disease types, but we have a roadmap for how it can be done for specific and deadly cases, even if it falls short of a cure. Unrelated to cancer, some drugs are black labeled because a small percentage of patients don't respond to them. Why not? Not because of environment or culture, but because the patients are missing the gene that produces the enzyme that converts the drug to its active form. Instead of doctors having to stop prescribing a drug altogether, often opting for more expensive alternatives, they could use precision medicine to know which patients would or wouldn't respond to the drug. Similarly, precision medicine is allowing researchers to test thousands of old and generic medicines developed to treat one illness for new purposes. Sure, early diagnosis is still the best cure for cancer, but we still lack effective and reliable diagnostics for lung, prostate, and pancreatic cancer. A recent Hopkins study also revealed that many cancers are simply a consequence of bad luck, not environment or culture, meaning cancer is here to stay. The Presidents vision for precision medicine is a bold and much needed replacement for the carpet bombing medicine of today.
12
Anyone who read the fabulous "Immortal life of Henrietta Lax" knows that science has repeatedly seduced us with THE solutions to illness and mortality; in the book referenced it was immortal cell lines that would keep us living beyond our years. With the discovery of DNA we were sure we had the key to life. Most recently it has been Vitamin D and the microbiome, and now it is by looking at our genes up close we think we will find answers. But, just as with Dorothy in Oz, we have had the answer in front of us all this time and we keep ignoring it: healthy food, exercise, enough sleep, compassion, community, emotional health, stress reduction, protection from toxic exposures. These measures always have better outcomes than anything humans can engineer.
2
While I agree that major diseases are complex, There are diseases that are not complex and this federal effort may help.
I also agree that if clinic oncologist would find tests to are low cost, non-evasive and simple to use discover cancer sooner would increase the number who survive cancer. In practice in January 2000 two cancer researchers wrote an article in Cell Magazine describing how cancer starts to replace cancer cells. Now fifteen years later those clinical oncologist are still using cancer cells and general chemotherapy.
I also agree that if clinic oncologist would find tests to are low cost, non-evasive and simple to use discover cancer sooner would increase the number who survive cancer. In practice in January 2000 two cancer researchers wrote an article in Cell Magazine describing how cancer starts to replace cancer cells. Now fifteen years later those clinical oncologist are still using cancer cells and general chemotherapy.
I agree that major diseases are more complex but there are many diseases that get be help by is effort.
If oncologist would try to help those with cancer then first find test for cancer that work at all levels and cost little. Then with these test they could find cancer early and find a way to overcome it. It appears that the oncologist do not want change. In January 2000 two cancer researchers wrote and article to replace cancer cells, but now fifteen years later they have not accepted it including those at the Mayo Clinic. Why would they make any changes now?
If oncologist would try to help those with cancer then first find test for cancer that work at all levels and cost little. Then with these test they could find cancer early and find a way to overcome it. It appears that the oncologist do not want change. In January 2000 two cancer researchers wrote and article to replace cancer cells, but now fifteen years later they have not accepted it including those at the Mayo Clinic. Why would they make any changes now?
And according to the Institute of Medicine, medical error is our third leading cause of death, numbering some 400,000 cases a year. I can think of three, in my own circle locally, that resulted from failure to evaluate, diagnose, and treat in the emergency room, probably because of a combination of haste and the kind of incompetence arising from chaos, in an effort to assure that most patients would be seen within 90 minutes, and to minimize the number of patients who leave without being seen, both of which have to be reported to Medicare/Medicaid. This requirement seems to have unintended and sometimes fatal consequences.
2
I am not an MD nor medical researcher. I am, however, very experienced in looking at DNA for genealogical and anthropological purposes, and read
a lot about basic research for disease purposes. (I'm a PhD chemical physicist.)
The problem with this opinion piece is that we have only skimmed the surface of DNA survey research. Most medical studies look at too small a fraction of a subject's total DNA. What is needed is millions of people,
from all over the world fully sequenced at good coverage. The price of this
for commercial, single person use, is now about $1500, so in bulk
it really is getting "cheap".
Of course, much journalistic medicine is always talking "genes". Genes,
technically, are a tiny part of the genome ... and huge parts of the rest are very poorly understood.
The real top notch researchers at top notch places of course know this and are working very very hard to get the basic research needed. Most "lesser" medical research, including most of the disease-based stuff, is, today,
on the trailing edge of seriously premature. The big stuff is likely to get done
over the next 10 or 15 years.
What we need, as government policy, is a bit more money into the
very top, most basic, such research. And a big push to spend the money
to get lots more random people sequenced, with the most emphatic most important feature of making the full genomes publicly available
(which means big bucks into big computer storage and data accessibility.)
a lot about basic research for disease purposes. (I'm a PhD chemical physicist.)
The problem with this opinion piece is that we have only skimmed the surface of DNA survey research. Most medical studies look at too small a fraction of a subject's total DNA. What is needed is millions of people,
from all over the world fully sequenced at good coverage. The price of this
for commercial, single person use, is now about $1500, so in bulk
it really is getting "cheap".
Of course, much journalistic medicine is always talking "genes". Genes,
technically, are a tiny part of the genome ... and huge parts of the rest are very poorly understood.
The real top notch researchers at top notch places of course know this and are working very very hard to get the basic research needed. Most "lesser" medical research, including most of the disease-based stuff, is, today,
on the trailing edge of seriously premature. The big stuff is likely to get done
over the next 10 or 15 years.
What we need, as government policy, is a bit more money into the
very top, most basic, such research. And a big push to spend the money
to get lots more random people sequenced, with the most emphatic most important feature of making the full genomes publicly available
(which means big bucks into big computer storage and data accessibility.)
3
"The problem with this opinion piece is that we have only skimmed the surface of DNA survey research.".....Exactly, and we won't know what we are going to discover until we do the research.
1
The main barrier to creating better genetic risk profiles for common disease is that individual level genetic data is siloed at various institutions worldwide. Without access to individual level data it is incredibly difficult for genetic researchers to build better polygenic risk models using more sophisticated statistical methodologies. Currently the gold standard to identify risk variants is that each variant is interogated individually, but there is evidence that polygenic models can do much better: biorxiv.org/content/early/2014/007799
Institutions have little incentive to share individual level data when the association analysis is only done on individual variants, were they can get away with sharing only individual variant level summary statistics.
While better genetic risk predicition models may not change the choice of intervention for everyone, it may allow for better patient selection for clinical trials. I agree expectations should be tempered, but there is a lot of evidence we can do better with the data we already have as well as the data that is to be generated.
Institutions have little incentive to share individual level data when the association analysis is only done on individual variants, were they can get away with sharing only individual variant level summary statistics.
While better genetic risk predicition models may not change the choice of intervention for everyone, it may allow for better patient selection for clinical trials. I agree expectations should be tempered, but there is a lot of evidence we can do better with the data we already have as well as the data that is to be generated.
3
Before administering medicines like Plavix or chemotherapy drugs, would it not be advantageous to know if the person receiving it is likely to benefit or have an adverse reaction based on their genetic predisposition?
1
Thank you. Expensive nonsense.
Best thing to do is eat organic, local, seasonal, meditate, exercise. Watch out for chemicals you bring into your home, whether in cosmetics, cleaners or your formaldehyde filled couch.
Add in some yoga or chi gong, and focus on gratitude.
Spend time with friends and family.
All these things influence your DNA for the better.
End of story.
Best thing to do is eat organic, local, seasonal, meditate, exercise. Watch out for chemicals you bring into your home, whether in cosmetics, cleaners or your formaldehyde filled couch.
Add in some yoga or chi gong, and focus on gratitude.
Spend time with friends and family.
All these things influence your DNA for the better.
End of story.
1
And you can be sure of this how? Please tell me where you learned how to simplify such complicated and vexing issues with such certainty? If it makes you feel safe, secure and in complete control, that's great, but I'm pretty sure there's some expensive nonsense involved at some level in your thinking as well!
1
Molecular Medicine is an important direction in medicine, but it is currently being oversold. Most diseases have complex biological origins and the danger here is that we might neglect other approaches to medicine, both in the research and clinical realms, and disproportionately fund one approach at the expense of all others. It is a question of balance and degree and recognizing clinical, public health and other important aspects of medicine and health care while acknowledging the promise of 'molecular, personalized medicine.'
1
"Personalized" genetic medicine is being greatly oversold to the public for marketing purposes. Understanding the role of genetics in human disease is an important research endeavor, but developing clinical useful, tested, and proven applications for patient care is going to take many decades if not centuries.
Sadly, when patients hear the term "personalized medicine" they are probably thinking of a doctor who has the time to know them as a person. In the era of price controls, shrinking reimbursement, and 10 minute office visits, this form of "personalized medicine" is in danger of extinction.
Sadly, when patients hear the term "personalized medicine" they are probably thinking of a doctor who has the time to know them as a person. In the era of price controls, shrinking reimbursement, and 10 minute office visits, this form of "personalized medicine" is in danger of extinction.
1
"Solve messy problems" "cure disease" "save lives" all these and more imply that mortality is a disease that can be cured. LOL!
Dr Joyner makes a fatal error here: just because the relatively small sum spent so far on the war on cancer and genomics (roughly 200 billion) hasn't yet made a huge difference, that doesn't mean it won't.
Dr Joyner says, correctly, that we know a lot (huge) more about how the human body works then we did 20 or even 10 years ago.
But this is not the relevant measure ; the relevant measure is, how much do we need to know ?
Based on this standard, we are still woefully ignorant.
I would estimate that we are still 20-40 years away from having a decent understanding of the human body; yes we know a lot, but there is much more we don't know
Just to give an example: there are, roughly, 30,000 proteins in the human body, plus millions of variants. Each protein has a complex 3D shape
We know this shape for a tiny fraction (there are 20,000 odd entries in the Brookhaven data base but the number of diff proteins at high resolution is much smaller)
If we did know the 3D shape, and had better software, we could replace most of the $$$ drug development process done by drug companies with supercomputers
Dr Joyner says, correctly, that we know a lot (huge) more about how the human body works then we did 20 or even 10 years ago.
But this is not the relevant measure ; the relevant measure is, how much do we need to know ?
Based on this standard, we are still woefully ignorant.
I would estimate that we are still 20-40 years away from having a decent understanding of the human body; yes we know a lot, but there is much more we don't know
Just to give an example: there are, roughly, 30,000 proteins in the human body, plus millions of variants. Each protein has a complex 3D shape
We know this shape for a tiny fraction (there are 20,000 odd entries in the Brookhaven data base but the number of diff proteins at high resolution is much smaller)
If we did know the 3D shape, and had better software, we could replace most of the $$$ drug development process done by drug companies with supercomputers
1
Don't ask what's inside the genes, ask what the genes are inside of.
Precision medicine is not about risk factors. It is about identifying who will benefit from a particular therapy. Drugs that test ineffective in a large clinical trial can be found to be very effective for a subset of the population, but the research is discontinued rather than identifying who the drug works well for.
I don't agree. The problem is thinking that DNA sequence determines phenotypic outcome in a specific manner. DNA in genes is really transcribed and translated into proteins that fold into 3D structures that then do their function interacting with other proteins, small molecules, RNA, and DNA. Most of our current drugs target multiple proteins (we've created a matrix of 3733 human use drugs vs. 60,000 protein structures as part of our CANDO project: http://protinfo.org/cando/ ). Understanding the interactome is how we can personalise diagnosis as well as treatment. We're doing this right now and we've made predictions for 2000+ diseases that our current drugs map to and it is messy, but untangling the mess is via a combination of big data and structural modelling of the interactome, not by indiviudal markers whose statistical significance bar is 1/20 (which is a REALLY bad idea---my threshold for statistical significance doesn't start until it's below 1/10^10).
Politicians, and heads of various NIH institutes, like to have large named initiatives that they can stamp as their own even if the questions are vague and poorly defined. This moonshot approach is apparent in the Human Connectome Project as well as the new Brain Map Initiative both of which concentrate too much funding in the hands of too few - and waste a lot of money while skewing expectations. It's almost impossible to figure out ahead of time who is going to make the great advances in science so the better response is to boost overall funding. But then that doesn't allow for huge press conferences standing side-by-side with the scientists that just won the scientific equivalent of the lottery.
1
This point is well-taken, and of course skepticism in the government is always warranted. My response is not a criticism but rather an attempt to educate.
When you suggest "boosting overall funding," this can mean one of two things: either increasing the budget of granting bodies (such as the NIH) or distributing existing funds more diffusely. The former would be a dream-come-true for all scientists, but such decisions are left to an uneducated voting populace and elected officials who do not understand that research is a long-term investment. The latter, perhaps paradoxically, would cause the research community to come to a grinding halt. If each investigator is given $1,000 (this value serves as a proxy for a relatively small sum of money, on the scale of both scientific and government spending), then they could not generate enough data to publish even a single paper with their results. Instead of promoting diverse research interests, such a strategy would prevent advancement in any given field.
I believe it is premature to be skeptical of large research consortia such as the Brain Map Initiative. Such concerted efforts in the past, such as the Human Genome Project, have been essential in our understanding of human biology and disease, as well as altering the paradigm of how biomedical research is conducted. As a scientist, I am hopeful that such studies can provide similar benefit, especially to an increasingly aging population.
When you suggest "boosting overall funding," this can mean one of two things: either increasing the budget of granting bodies (such as the NIH) or distributing existing funds more diffusely. The former would be a dream-come-true for all scientists, but such decisions are left to an uneducated voting populace and elected officials who do not understand that research is a long-term investment. The latter, perhaps paradoxically, would cause the research community to come to a grinding halt. If each investigator is given $1,000 (this value serves as a proxy for a relatively small sum of money, on the scale of both scientific and government spending), then they could not generate enough data to publish even a single paper with their results. Instead of promoting diverse research interests, such a strategy would prevent advancement in any given field.
I believe it is premature to be skeptical of large research consortia such as the Brain Map Initiative. Such concerted efforts in the past, such as the Human Genome Project, have been essential in our understanding of human biology and disease, as well as altering the paradigm of how biomedical research is conducted. As a scientist, I am hopeful that such studies can provide similar benefit, especially to an increasingly aging population.
I am an MD specializing and boarded in laboratory medicine and I find this OP ED piece; a refreshing voice of wisdom in the current murk associated with widespread genetic testing and its supposed benefits.
1
In a research environment in which funding is increasingly difficult to obtain, it is critical that the scientific community be parsimonious with the resources it has. That being said, the argument presented here possesses misguided flaws.
The contrast between understanding the genetic nuances of disease and therapeutic responsiveness and "other" types of studies simply does not exist. Researchers, in general, treat the identification of functionally important, or "risk," alleles as the beginning, rather than the purpose, of their study. This has become increasingly true in recent years; backlash against a lack of understanding of disease (biological and environmental) is building, for example, in the arena of intervention for mental illness. Conversely, a classification of the various markers of breast cancer subtypes and the underlying cellular processes regulated by these factors has provided impetus for the development and widespread clinical implementation of therapies targeted for ER( ) (tamoxifen) and HER2( ) (trastuzumab) cancers. Isolating specific genetically regulated processes facilitates these sorts of breakthroughs.
Lastly, the efficacy of lifestyle modifications in treating many common diseases is well-established, and an understanding of these approaches need only be results-based, not mechanistic. In advocating against studying an inherently unpredictable genome, Dr. Joyner has provided as an alternative that could not be more unpredictable: human behavior.
The contrast between understanding the genetic nuances of disease and therapeutic responsiveness and "other" types of studies simply does not exist. Researchers, in general, treat the identification of functionally important, or "risk," alleles as the beginning, rather than the purpose, of their study. This has become increasingly true in recent years; backlash against a lack of understanding of disease (biological and environmental) is building, for example, in the arena of intervention for mental illness. Conversely, a classification of the various markers of breast cancer subtypes and the underlying cellular processes regulated by these factors has provided impetus for the development and widespread clinical implementation of therapies targeted for ER( ) (tamoxifen) and HER2( ) (trastuzumab) cancers. Isolating specific genetically regulated processes facilitates these sorts of breakthroughs.
Lastly, the efficacy of lifestyle modifications in treating many common diseases is well-established, and an understanding of these approaches need only be results-based, not mechanistic. In advocating against studying an inherently unpredictable genome, Dr. Joyner has provided as an alternative that could not be more unpredictable: human behavior.
3
I disagree completely with the author. The very definition of research is to discover what we previously did not know. Government investment in basic research, even when we did not know in advance where we were going, has made the United States the world leader in science and technology. The results have paid huge dividends to our economics and quality of life. Our government has already seriously reduced investment in basic research. We continue to do so at no small peril for our future.
3
I disagree. While I wouldn't dismiss all of his comments, I do believe that genetic targeting can work in some patients and in fact, studies have already shown some successes. Also, I do question the writer's qualifications to make such statements as he is not a doctor who treats patients.
1
I think Mr. Joyner may misunderstand the role that genetic information may well play in finding new medicines. A medication for a disease, developed to counteract a particular problematic gene would probably not treat all the factors contributing to that disease. But then few medications do this.
Nonetheless, a new drug, developed to counteract the pathological effect of only one particular gene, may well prove to be a very effective treatment. The relationship of genes to treatments isn't very often tight. Most effective medications contribute to treatment strategies that entail multiple components.
For example, effective drugs for high blood pressure (which has a genetic basis) rarely counteract all the causes of this condition. Treatment frequently requires a combination of medications, plus weight loss and limiting salt. With genetic diseases, also, it's likely that multiple medications and treatment strategies will be needed.
Searching for new treatments based on scientific studies of the relationship of genes to disease is likely to prove a very drug development strategy. Genetic science raises great hope for improved medical treatments in the future, even if most medicines developed in this way don't - by themselves - do all that's needed.
Nonetheless, a new drug, developed to counteract the pathological effect of only one particular gene, may well prove to be a very effective treatment. The relationship of genes to treatments isn't very often tight. Most effective medications contribute to treatment strategies that entail multiple components.
For example, effective drugs for high blood pressure (which has a genetic basis) rarely counteract all the causes of this condition. Treatment frequently requires a combination of medications, plus weight loss and limiting salt. With genetic diseases, also, it's likely that multiple medications and treatment strategies will be needed.
Searching for new treatments based on scientific studies of the relationship of genes to disease is likely to prove a very drug development strategy. Genetic science raises great hope for improved medical treatments in the future, even if most medicines developed in this way don't - by themselves - do all that's needed.
1
Good article -- but wrong in my case about warfarin. I started on a standard dose -- which turned out to be way to high for me. A very excessive INR reading forced me to take medication to bring it down. I now know [via 23andme] that I'm genetically sensitive to warfarin. Had that been known, my initial dose would have been lower and my problem wouldn't have occurred.
1
I agree whole-heartedly, and experience will vindicate this perspective. We have long understood that humanity shares >99.99% or greater genetic identity. Then we learn that much of the genome does not code for anything and that our micro biomes are ten times more numerous than our own cells. It is illogical to conclude that most disease states arise from genetic variation.
4
I think the author makes some good points here, this is a bit of a "moonshot" but I don't necessarily think it's money wasted. The main takeaway for those not in research should be "temper your expectation." Science is a slow process and large projects like this often have numerous unexpected and exciting findings and I think it's a mistake to target science funding to the point pure empirical research questions can't be addressed. The author also sticks to talking about simple DNA analysis but of course we now know methylation and epigenomic aspects add a whole new layer to this- connecting the genetics to the environmental side of the story. Statistics and big data analytics are the key to making all this happen... but of course this also requires investment to generate the large sample sizes needed to make it all meaningful. Hopefully this project supports both.
1
There are several very human reasons why Michael Joyner is mistaken.
First he makes the mistake common to many of the more educated and therefore self congratulatory in our society that informs them that their knowledge in one area automatically extends to another. In this case a knowledge of medicine extending to a well informed opinion in the rewards of scientific research. I would be inclined to posit that an attempt to find medicines that can be tweaked to respond better to different genotypes would have little result in the basic direction, just as Dr. Joyner but I would go on to consider that the knowledge gained of both manipulation of pharmacological formulation and genome variation would probably result in as yet unsuspected breakthroughs and unanticipated successes.
There is, a certain weight to knowledge in itself. As well there is a danger if we always take the safe path when choosing what to fund and follow.
But a larger mistake is in believing that funding 'so-called precision medicine' would in any way detract from his call for life-style medical activism. This is an error common in both the well educated and the general public. Money is not as fungible as you might think. Not once it has been spent. The people capable of advancing precision medicine and those capable of advancing cultural medicine are not interchangeable. It isn't really money we are talking about, it is researchers and actors. In this case they do not even have lab equipment in common.
First he makes the mistake common to many of the more educated and therefore self congratulatory in our society that informs them that their knowledge in one area automatically extends to another. In this case a knowledge of medicine extending to a well informed opinion in the rewards of scientific research. I would be inclined to posit that an attempt to find medicines that can be tweaked to respond better to different genotypes would have little result in the basic direction, just as Dr. Joyner but I would go on to consider that the knowledge gained of both manipulation of pharmacological formulation and genome variation would probably result in as yet unsuspected breakthroughs and unanticipated successes.
There is, a certain weight to knowledge in itself. As well there is a danger if we always take the safe path when choosing what to fund and follow.
But a larger mistake is in believing that funding 'so-called precision medicine' would in any way detract from his call for life-style medical activism. This is an error common in both the well educated and the general public. Money is not as fungible as you might think. Not once it has been spent. The people capable of advancing precision medicine and those capable of advancing cultural medicine are not interchangeable. It isn't really money we are talking about, it is researchers and actors. In this case they do not even have lab equipment in common.
3
The fact that epigenetic factors, such as human behavior, are a major influence in disease should not negate efforts in basic genetics research. It is a matter of managing expectations.
4
GENTETIC TESTING AND SCIENCE IN GENERAL
First today there are many genetic tests with limited predictive power for disease and potential for disease very expensive… usually, a 500-300 dollars, hence, meaningless. One might as well flip a coin and treat. There are several tests that are highly predictive of getting a disease and warrant much closer follow-up, sometime prophylactic therapy. , Examples are two breast cancer genes and a colon cancer gene, but only if it fits into specific algorithms otherwise worthless.
Another area is genetic testing for chemotherapy, is marginally effective and expensive, but on the other hand, so is chemical therapy. A few genes are very predictive and fruitful, that is significant palliation and long survival potential.
There is a big push to put the cart before the horse, hence, the public demands them. This was the problem with the war on cancer… that involved applied research as opposed to basic research and was a total waste of money… but society and politicians milked this for millions ineffective research. It is basic research that gives remarkable benefits, such as AIDS and treatment for hepatitis C, HPV research in cervical cancer and Helicobacter ulcer disease and a childhood meningitis vaccine, and notoriously absent, Ebola Vaccine and malaria, TB multiple resistance research. The biggest problem we face today is the out of control politicization of science. Billions are being wasted on this endeavor.
Ron hansing 1.29.15
First today there are many genetic tests with limited predictive power for disease and potential for disease very expensive… usually, a 500-300 dollars, hence, meaningless. One might as well flip a coin and treat. There are several tests that are highly predictive of getting a disease and warrant much closer follow-up, sometime prophylactic therapy. , Examples are two breast cancer genes and a colon cancer gene, but only if it fits into specific algorithms otherwise worthless.
Another area is genetic testing for chemotherapy, is marginally effective and expensive, but on the other hand, so is chemical therapy. A few genes are very predictive and fruitful, that is significant palliation and long survival potential.
There is a big push to put the cart before the horse, hence, the public demands them. This was the problem with the war on cancer… that involved applied research as opposed to basic research and was a total waste of money… but society and politicians milked this for millions ineffective research. It is basic research that gives remarkable benefits, such as AIDS and treatment for hepatitis C, HPV research in cervical cancer and Helicobacter ulcer disease and a childhood meningitis vaccine, and notoriously absent, Ebola Vaccine and malaria, TB multiple resistance research. The biggest problem we face today is the out of control politicization of science. Billions are being wasted on this endeavor.
Ron hansing 1.29.15
2
Michael, you are missing the point. Precision medicine goes far beyond genetic risk factors. Targeting therapy to those most likely to respond involves demographic and lifestyle factors, as well as disease characteristics that are not share by everyone having a certain disease.
It is well-known that the largest proportion of medical expenses go to the treatment of preventable life style diseases, be they cancer, obesity, type 2 diabetes, or whatever - and here Dr Joyner is singing a familiar tune. However that does not mean that we should not do more research on genetic and other factors- this is not a zero sum game.
The author is correctly pointing out that such proposals build unachievable exectations by failing to appreciate our inherently limited understanding of the subject. Medicine is not physics; well, it is, but in a system so complex we don't understand all the interconnections and interactions yet, nor will we for a long time. It still amazes me how often I hear the theme, "…if we put a man on the moon, why can't we…?" We got to the moon by building machines that were simple enough to understand and control but still able to do the job. And they were machines. We got rockets that worked by blowing up a lot of rockets to figure them out; we tested every piece of every system and if it broke we figured out why and redesigned it; we built systems that would probably work by ganging together pieces that would more probably work and backed each other up; and testing began at the start, from the bottom up--you never waited to test something until it was built, but during development, one piece at a time, so if something didn't work, you could clearly diagnose why and redesign it. These are the principles that led to engineering success. Medicine, for all its progress of late, needs to acknowledge what it doesn't know, and back off to the level of what it does understand and work up from there, piece by piece. Ironically, I think medical researchers understand this. Those controlling the funding, not so much.
1
Anybody actually listening?
"is hard to develop a clear picture of who is really at risk for what. This was actually one of the major and unexpected findings of the Human Genome Project."
NOT unexpected; this was PREDICTED - by a subset of fully credentialed academic biologists. Predicted.
They are very tired of having their statements ignored, however, and most have given up on the idea of influencing the "biotech" fiscal juggernaut, and its spin-offs; of which precision medicine is one.
If you are a taxpayer; or a policy maker- it would be more than worth your time to find these scientists. I'll even give you a hint. Talk to the heads of Evolutionary science departments.
"is hard to develop a clear picture of who is really at risk for what. This was actually one of the major and unexpected findings of the Human Genome Project."
NOT unexpected; this was PREDICTED - by a subset of fully credentialed academic biologists. Predicted.
They are very tired of having their statements ignored, however, and most have given up on the idea of influencing the "biotech" fiscal juggernaut, and its spin-offs; of which precision medicine is one.
If you are a taxpayer; or a policy maker- it would be more than worth your time to find these scientists. I'll even give you a hint. Talk to the heads of Evolutionary science departments.
3
Its rare when someone who knows what they are talking about also has the courage to say 'this emperor has no clothes'. Kudos to Dr. Joyner.
The money wasted on this project is desperately needed to fund young scientists doing basic science and to perform more intelligent collaborative science to rapidly follow up on breakthroughs.
This type of big science is very easy to do. And it sounds sexy. But it is crank turning. The real discoveries are still incredibly hard work, take years, and are unpredictable.
Our funding system for the biological sciences has been corrupted by BIG - big science, big hype, and big money.
The money wasted on this project is desperately needed to fund young scientists doing basic science and to perform more intelligent collaborative science to rapidly follow up on breakthroughs.
This type of big science is very easy to do. And it sounds sexy. But it is crank turning. The real discoveries are still incredibly hard work, take years, and are unpredictable.
Our funding system for the biological sciences has been corrupted by BIG - big science, big hype, and big money.
5
Dr. Joyner is spot on. This essay should be read by everyone, physicians and patients alike. Once told about some condition "in their genes" many otherwise intelligent people make unwarranted extrapolations, often to the detriment of their own health. Well done, Dr. Joyner. Keep up the good work.
3
This is not a zero-sum game. Basic science has been a loser for decades, and beggars can't be choosers. So more power to any worthy applied/translational science that does get the nod from the politicians. Basic science will get done around the edges, same as it was through the war on cancer, or the human genome project. Dr. Joyner, perhaps your efforts could be better spent in fighting for more research in general?
1
"Basic science has been a loser for decades".....Nothing could be farther from the truth. I am a scientist, and I worked in drug research for my entire career. And though my field of endeavor involved applied research, I can assure you that basic research is the foundation on which all applied research is built - no foundation, no building, period. I would make two emphatic points. First, basic research is absolutely essential. Second, the government research centers, universities laboratories, and the like are poorly designed and ill equipped to engage in applied research. We need them seriously invested in basic research, which they do very well, and which is incredibly important.
1
@ W. A. Spitzer
You misunderstand me. I am all for basic science, fully understand its importance, and would like more support for it. I meant it has been a loser with respect to financial backing from politicians, which does not seem to be changing in the near future.
You misunderstand me. I am all for basic science, fully understand its importance, and would like more support for it. I meant it has been a loser with respect to financial backing from politicians, which does not seem to be changing in the near future.
1
I disagree. We now know that most cancers are related to certain chemical changes in the cell. Most of these changes often occur just because we live and are a part of being lucky or not. Most of these are acquired not inherited. About 20 biochemical changes account for almost all tumors. We can identify most of these. We are developing ways to stop them (antibodies, drugs, immune activators). By identifying all of the drivers for each individual tumor a "cocktail" can be given to stop that particular tumor. We are now seeing the amazing successes of these efforts. Its happening!!
If you want all the details on many of these see letswakeupfolks.blogspot.com- follow the cancer pathways , stem clls, and the mighty immune system.
If you want all the details on many of these see letswakeupfolks.blogspot.com- follow the cancer pathways , stem clls, and the mighty immune system.
1
Nobody gets out of here alive. Yet it seems there are a significant number of people who can't bring themselves to admit as much. Perhaps, as the author comments, we would be better off directing our energies to solving obvious and tractable issues that are right in front of us. I have sympathy with his position.
4
The last paragraph makes the fundamental point. Should an intense focus on precision/personalized/genome-based research soak up a large fraction of research funds, when we are searching for ways to massively shrink our current total costs of disease care?
The conversation should start with a consideration of what our national priorities should be and then to allocate funding on that basis. If after adequate reflectiona and discussion, a war on genomic dysfunction is on the list, so be it.
That, of course is a rational approach, based on depending on our intellectual abilities, logic, evidence and control of our (irrational) animal drives. It doesn't seem to work that way with human animals, though.
Steve Rinsler, MD
Arden, NC
The conversation should start with a consideration of what our national priorities should be and then to allocate funding on that basis. If after adequate reflectiona and discussion, a war on genomic dysfunction is on the list, so be it.
That, of course is a rational approach, based on depending on our intellectual abilities, logic, evidence and control of our (irrational) animal drives. It doesn't seem to work that way with human animals, though.
Steve Rinsler, MD
Arden, NC
3
Sobering thoughts about the future of "precision medicine" in detecting and controlling illness. As important as genetics is, the pathophysiology (mechanism of action) of disease is more complex, and the environment and its circumstances play a most important role. And before anybody thinks we humans are in control of things, think again, because 'chance' is so much more important and widespread in the occurrence of health...or its absence. Look at cancer, a condition we all dread, and try to eradicate, but it must be remembered that a neoplasm originates within any of our normal cells, bombarded, continuous or intermittently, by chemical, physical, hormonal and traumatic factors, and a reaction to all and any of them depends on 'serendipity' we hardly understand, at least for now. So, wise heads are talking about control rather than elimination of cancerous cells, a sort of symbiosis, where the host can not only survive but thrive, while the neoplasm is 'neutered' and domesticated into submission. So, randomness remains 'king' in life's affairs, and we control things on the margins, as the potential for disease becomes real. Within this frame, we may, humbly, discuss the virtues of 'precision medicine', no doubt a very worthwhile undertaking.
Of course, this whole consept is predictable. It will be promoted by the drug and chemical companies. It's your fault that your sick! It is NOT because you are being subjected to massive amounts of enviromental toxins. Your genes are making you sick. That way it is not the tobaco companies, not the air polution, not the toxic exposure you are subjected to daily! It your fault! You are not good enough!
The human body has evolved over a million years to fit into the natural world. We are but our natural evolution and natural selection is not equiped to handle the massive change modern world is forcing on us due to greed and profit. So now instead of looking at what's making us sick, it is more expedent to blame the patent.
The human body has evolved over a million years to fit into the natural world. We are but our natural evolution and natural selection is not equiped to handle the massive change modern world is forcing on us due to greed and profit. So now instead of looking at what's making us sick, it is more expedent to blame the patent.
2
"The human body has evolved over a million years to fit into the natural world."......Up to the point of reproduction, after reproduction all bets are off. So if you are over 50, for all evolution cares you might as well be dead. Being more than 50 myself, I am not quite ready to accept that.
Dr. Joyner presents an honest assessment of historical findings in the field of genomics and the promise of personalized medicine. But while the hype of the past has engendered widespread skepticism, the future of molecular targeted therapies is extremely bright. The greatest fault of this opinion-editorial contribution is its neglect in pointing out how current research is actually delivering on the promise of actual cures. At a recent hematology conference i witnessed presentations heralding actual total cures of childhood leukemias from multiple international groups. Perhaps anesthesiology has not emerged from the forest, but oncology certainly has begun to.
I am a doctor of oncology working as a consultant to the pharmaceutical industry.
I am a doctor of oncology working as a consultant to the pharmaceutical industry.
1
With all due respect for Dr. Joyner and his perspective as an anesthesiologist, my perspective as a pathologist is entirely different. We have seen our field completely revolutionized by molecular genetics. There are, in fact, a number of successful targeted cancer therapies for which specific mutations or gene rearrangements are now routinely tested in biopsy specimens. Our ability to classify tumors is improving significantly with increasing genetics research, leading to more appropriate treatment regimens. It is almost without debate within my field that further genomics research will continue to be a driver of innovation and change. So while it may be true that research into genetic variants will prove unhelpful for the treatment of complex chronic diseases such as obesity, diabetes, and heart disease, perhaps in the specificly intended meaning of "precision medicine," those of us who are daily involved with the diagnosis and characterization of cancer know that there are very tangible benefits from increased funding of genetics research.
3
How about a massive effort to clean hospitals up. How many die of MRSA every year?
How many will die from their ailment although wasting billions on unnecessary testing and therapies, including surgery, because we must intervene?
Let's spend more millions in the hope we may 'STUMBLE' upon an improvement that may or may not be effective or only help a few in a perfect setting and if they meet the perfect criteria for the breakthrough. And then corporate medicine won't reimburse anyway.
I'm all for research as soon as the USA becomes a democracy again, results of research are distributed and paid for justly and I'm not classified as a drone for corporate USA.
How many will die from their ailment although wasting billions on unnecessary testing and therapies, including surgery, because we must intervene?
Let's spend more millions in the hope we may 'STUMBLE' upon an improvement that may or may not be effective or only help a few in a perfect setting and if they meet the perfect criteria for the breakthrough. And then corporate medicine won't reimburse anyway.
I'm all for research as soon as the USA becomes a democracy again, results of research are distributed and paid for justly and I'm not classified as a drone for corporate USA.
1
Ah yes, but all the genetic information about disease will come in handy when designer babies and manipulating the human genome becomes common practice. We are just the last few generations of the wild strain on humanity.
1
Only true for the elites. The rest of us will have no access to such technology since the powerful have no incentive to see all boats raised equivalently.
2
True. Designer babies ARE coming and they will change everything, IF we survive the change in the environment.
1
Dr. Joyner mentions the "unintended consequences" of personalized medicine, such as a fatalistic attitude in people who believe they are destined to suffer from a certian disease because it's in their genes. These attitudes underscore the need for through genetic counseling whenever inherited disease risks are discussed-- be it in the context of a simple family history or a sophisticated genetic test. When individuals are educated about genetic AND lifestyle-related risks for disease, they feel empowered to reduce the risks they do have control over: lifestyle choices such as diet and exercise.
10
"they feel empowered to reduce the risks they do have control over: lifestyle choices"
Apparently you haven't seen the die-hard smokers who use their tracheotomy tubes to inhale through.
Apparently you haven't seen the die-hard smokers who use their tracheotomy tubes to inhale through.
1
Breast cancer survival rates and leukemia survival rates, among others are much higher than they were 30 years ago. In good part this is due to a better understanding of both cancer and the genetic mutations that occur either randomly during a person's life or through inheritance. Already tests can be done for gene expression in cancer cells and treatments tailored to the results. Since there are currently over 200 genes known to be involved in carcinogenesis, this is only the tip of the iceberg. With the high through-put technology that is now available it is quite conceivable that in not terribly long we will be able to scan through the 20,000 or so genes that a person has and/or the expression of the proteins that they encode, and determine what sort of things may be awry, and whether the person's particular disease and/or normal metabolism will respond to a given pharmaceutical treatment. The information will come in fits and starts, one syndrome or drug at a time perhaps, but the beginnings of it are already here. This letter reminds me of when my father, a scientist, claimed that it was physically impossible to send people to the moon when I was a small child. There are more things in heaven and earth than are dreamt of in your philosophy.
2
Articles like this only add fuel to the naturalistic fallacy rampant among those who do not vaccinate their children and believe that if we all shop in Whole Foods, we'll live forever. Yes, genomic medicine is in its infancy and some of its claims are exaggerated. But not as exaggerated as the Luddite belief that "chemicals" are the root of all evil. I have BMI of 17 and am fitter than most Americans much younger than me. But had I lived in the 19th century, I would have died in my early twenties from a disease that is easily curable today. Genomic medicine is the future. Among its applications is advice to future parents how to maximize the genetic fitness of their offspring (something that is already done now, albeit on a primitive level). Please do not respond with cries of " eugenics". I have written peer-reviewed papers on the history of eugenics and more broadly, the social history of medicine, so I recognize a fallacy when I see one.
1
WHY? . . .
there are probably an infinite number of variables involved for a close to infinite number of diseases and disorders.
there are probably an infinite number of variables involved for a close to infinite number of diseases and disorders.
2
What an odd argument. The author is proposing re-allocating resources out of a developing area of clinical research (genetic medicine) into an unrelated area (behavior modification). Why would one expect answers out of the genetic map "right here right now" when the technology for such rapid mapping is only a few years old.
We need to get out of the stock market mindset of seeing huge results every quarter, and plan for the long-term. Better understanding of genetics may allow cures for cancer, Alzheimer's, and extend our lifespans. But research takes time. Let's not pull the plug on understanding ourselves.
We need to get out of the stock market mindset of seeing huge results every quarter, and plan for the long-term. Better understanding of genetics may allow cures for cancer, Alzheimer's, and extend our lifespans. But research takes time. Let's not pull the plug on understanding ourselves.
17
One thing let's not do with all this research is prolong life. I would say 75-85 is just about the maximum life span for most people. Have those last few years to sit around and put your affairs and your life in order, but then the train needs to leave the station. We have far too many people just barely hanging on, taking up far more of our resources than makes a bit of sense.
5
You truly belie your own lack of experience and misunderstanding of how to achieve good health and nothing more! There are people who may become sick of life as young as their forties that fit your description, but there certainly are nonegenerians who are sharp, active and not interested in "barely hanging on," but living a good life. Research into extending life is research into achieving health and well-being for anyone at any age.
These targeted efforts represent a complete misunderstanding of the scientific process and a waste of money. Plugging research dollars into a specific project will never guarantee results because we do not know what we don't know. What we need is money to support basic science with no strings attached for specific projects. The results will flow from that. Politicians, do your job and fund NIH. Leave the science to the scientists!
8
No, the results are already saving lives. See letswakeupfolks.blogspot.com -follow all the cancer pathways
It would be wise if much of the research money would be geared to developing bacteria specific antibiotics versus the much over-prescribed broad spectrum antibiotics that have caused rampant antibiotic resistant bacteria while killing off many millions of good bacteria beneficial to proper digestive and immune functions.
1
Dr. Joyner apparently lumps disruptive technological change in the same class as Santa Claus, the Tooth Fairy, and the Easter Bunny.
What we've seen in every other field of endeavor -- including many more complex than delivery of medical service -- is contrary to Dr. Joyner's core premise ("Medical problems and their underlying biology are not linear engineering exercises ...."). Exactly so, Doctor. Our experience in other contexts has been like baseball on Astroturf: put the ball in play and you may be surprised where it goes.
The good doctor may ponder Knute Rockne and Gus Dorais at West Point in November 1913 stunning Army with the forward pass. There are lessons there for an institution like Mayo Clinic.
What we've seen in every other field of endeavor -- including many more complex than delivery of medical service -- is contrary to Dr. Joyner's core premise ("Medical problems and their underlying biology are not linear engineering exercises ...."). Exactly so, Doctor. Our experience in other contexts has been like baseball on Astroturf: put the ball in play and you may be surprised where it goes.
The good doctor may ponder Knute Rockne and Gus Dorais at West Point in November 1913 stunning Army with the forward pass. There are lessons there for an institution like Mayo Clinic.
3
Uch, please leave the delusional language of silicon valley out of medicine. It seems like you think the hoped for gains are in bureaucratic efficiency as opposed to understanding extremely complex biological systems. (Ironically, it seems like the author agrees with you that that is where research effort should be devoted). And no, we haven't succeeded at any 'field of endeavor' more complicated than understanding exactly how the genome determines biology.
Certainly the "war on cancer" was a foolish errand as it viewed cancer as a single illness rather than a multitude of ones. However, there have been great strides made in the treatment of certain types of cancer over the past 40 years, most notably leukemias and lymphomas.
A major problem is, as Dr. Joyner notes, that we still only given lip service to prevention of cancer rather than waiting to treat it once it has occurred. Some interventions that are described as being preventive, such as mammograms, don't prevent anything but only detect cancer once it has occurred. Most doctors don't even bother to address the lifestyle issues that can have an impact on cancer because insurance companies will, to paraphrase Jefferson, spend millions to treat and not one cent to prevent.
A major problem is, as Dr. Joyner notes, that we still only given lip service to prevention of cancer rather than waiting to treat it once it has occurred. Some interventions that are described as being preventive, such as mammograms, don't prevent anything but only detect cancer once it has occurred. Most doctors don't even bother to address the lifestyle issues that can have an impact on cancer because insurance companies will, to paraphrase Jefferson, spend millions to treat and not one cent to prevent.
4
What lifestyle issues other than forgoing smoking and lining furnaces with asbestos bricks? Eating nothing at all to avoid food contaminated by farm practices?
Personally I think you can jog until the cows come home and it will make no difference. it is luck of the draw whether cancer or cardiac issues or maybe a form of dementia gets you.
Personally I think you can jog until the cows come home and it will make no difference. it is luck of the draw whether cancer or cardiac issues or maybe a form of dementia gets you.
There is potential merit in marrying the new ease of obtaining individual genetic information with treatment. But if research dollars are finite, there is a risk that by diverting larger proportions of the research budget into this one area and neglecting other studies and approaches, we may lose if this one initiative does not fulfill the promise and those other areas turns out to be better.
Scientists have to believe in their particular focus, sometimes with a single-minded, even blinding passion. When that passion gets into the political arena and distorts the peer-review process, there is danger. Politicians and government officials are not equipped to judge which science has the higher promise and deserves more funding. Often, they use considerations like catchy slogans (I voted for the war on cancer) or a wet finger in the wind (counting the number of emails from a lobbying effort) or economics (the research center is in my district).
Better to look at the model from Silicon Valley investors. Early on, they do not know which idea being pitched is Apple or Google and which will never amount to anything so they invest smaller amounts in many ventures. As data makes the future clearer, dollar amounts increase, and the investment portfolio narrows.
Is this idea ready for the big bet?
Scientists have to believe in their particular focus, sometimes with a single-minded, even blinding passion. When that passion gets into the political arena and distorts the peer-review process, there is danger. Politicians and government officials are not equipped to judge which science has the higher promise and deserves more funding. Often, they use considerations like catchy slogans (I voted for the war on cancer) or a wet finger in the wind (counting the number of emails from a lobbying effort) or economics (the research center is in my district).
Better to look at the model from Silicon Valley investors. Early on, they do not know which idea being pitched is Apple or Google and which will never amount to anything so they invest smaller amounts in many ventures. As data makes the future clearer, dollar amounts increase, and the investment portfolio narrows.
Is this idea ready for the big bet?
Perhaps it's an understandable occupational hazard of those who spend their working lives dissecting and taking things apart in order to explain those things but it seems that too many scientists believe that, eventually, EVERYTHING (including human consciousness!) will be reduced to a series of zeros and ones.
Instead, reality seems to be a lot more complex, holistic and interdependent on phenomenon which is not so easily reduced, if reducible at all. Unfortunately, that means that our the current faith-based belief (especially among those who allege to be hard-headed types) that measurement and math will provide answers to fundamental questions is wrong.
So, too bad, but however wondrous our mapping of the human genome proved to be all those "answers" we expected from that accomplishment just ain't going to happen.
Instead, reality seems to be a lot more complex, holistic and interdependent on phenomenon which is not so easily reduced, if reducible at all. Unfortunately, that means that our the current faith-based belief (especially among those who allege to be hard-headed types) that measurement and math will provide answers to fundamental questions is wrong.
So, too bad, but however wondrous our mapping of the human genome proved to be all those "answers" we expected from that accomplishment just ain't going to happen.
4
Yes, we should take a more spiritual approach to scientific research.
Using genetic testing in medicine is in its infancy, but has great promise. Just the sort of thing where government-funded research is essential and has borne great fruit in the past. This is not an area likely to be adequately funded, because one of the first likely benefits will be in screening patients to find out whether or not a particular drug will benefit them. Pharmaceutical companies make a lot of money selling drugs to 100% of patients with a disease, when only 40% will benefit. Likewise, drugs that will be a great help to 10% of the public never gain approval because they are tested on the full populace and the positive results on the 10% aren't enough to prove the drug's worth.
25
Drug companies are very enthusiastic about the possibility of being able to market drugs to those 10% population segments. Being able to identify subgroups that respond best to various treatments would actually be a boon to the drug industry.
Heaven forbid we prevent enormous amounts of disease with proper diets, no smoking, less drinking and getting off the sofa. Not sexy at all, no money to be made or spent I suppose.
9
All big ideas in science met fierce skepticism (Remember Galielo!) However, what this editorial ignores is that research in human genetics is not just a shot in the dark. It has already produced important findings that will be building blocks for a healthier society of the future. What the scientific community has come to realize is that solving the genetic puzzle is not easy and much more work is needed before we can translate basic science findings into public health and medicine interventions.
3
GENETICS VERSUS EPIGENITICS
While we have learned a great deal about genetic structure in the last few decades, we have comparatively little information about the processes of change involved in the epigentic triggering of genes--turning them on and off. The empirical information reported, while valid, omits mention of the possibility of monitoring the epigenetic processes involved in diseases at a genetic level. Research in epigenetics may provide information about how to prevent or minimize the activation of genes related to disease and/or how to deactivate them. One area of inquiry could provide interesting information: defining the epigenetic processes in people who medications such as anti-coagulants, cholesterol control medications and low dose aspirin.
While we have learned a great deal about genetic structure in the last few decades, we have comparatively little information about the processes of change involved in the epigentic triggering of genes--turning them on and off. The empirical information reported, while valid, omits mention of the possibility of monitoring the epigenetic processes involved in diseases at a genetic level. Research in epigenetics may provide information about how to prevent or minimize the activation of genes related to disease and/or how to deactivate them. One area of inquiry could provide interesting information: defining the epigenetic processes in people who medications such as anti-coagulants, cholesterol control medications and low dose aspirin.
3
Well, that was remarkably anti-science!
How does the author think progress is made in science or medicine? There already has been considerable advances in meds aimed at attributes discovered from mapping the human genome - and that was not so long ago.
We spend countless buckets of money on advanced moonshot weaponry. I would rather spend every dime of it on moonshot medicine - even if it's a long shot. One builds, the other destroys.
How does the author think progress is made in science or medicine? There already has been considerable advances in meds aimed at attributes discovered from mapping the human genome - and that was not so long ago.
We spend countless buckets of money on advanced moonshot weaponry. I would rather spend every dime of it on moonshot medicine - even if it's a long shot. One builds, the other destroys.
7
Well and bravely put. Take "cancer" as one example: we don't realize this is a very large and heterogeneous group of diseases with many different "causes". Even anatomical subgroups like "lung cancer" or "lymphoma" or "melanoma" have dozens to hundreds of subtypes and variants within subtypes. For all of the latter three, there have in fact been advances in identifying precision targets and aiming therapies at them with success. But these remain the minority, and are likely to remain so.
Meantime, environmental causes are the ones easiest to deal with, with what we know. Smoking and lung cancer are the prototype and have been since Doll and Peto made the connection in the early 1950's in their studies of smoking and nonsmoking British physicians. Action to curb tobacco use earlier on could have saved millions more lives than targeted therapies ever will.
This doesn't mean we should throw the baby out with the bathwater when it comes to this research - great advances in for example melanoma treatment occurred via identification of genomic targets and specific therapies aimed at them. Still, better dissemination of knowledge about the principal environmental cause of that disease is at least as great a need. That too requires research dollars.
What we need is balance. Research should take into account which areas are likely to give greatest impact for the largest number. We must not let genomics overshadow corresponding efforts in preventive medicine.
Meantime, environmental causes are the ones easiest to deal with, with what we know. Smoking and lung cancer are the prototype and have been since Doll and Peto made the connection in the early 1950's in their studies of smoking and nonsmoking British physicians. Action to curb tobacco use earlier on could have saved millions more lives than targeted therapies ever will.
This doesn't mean we should throw the baby out with the bathwater when it comes to this research - great advances in for example melanoma treatment occurred via identification of genomic targets and specific therapies aimed at them. Still, better dissemination of knowledge about the principal environmental cause of that disease is at least as great a need. That too requires research dollars.
What we need is balance. Research should take into account which areas are likely to give greatest impact for the largest number. We must not let genomics overshadow corresponding efforts in preventive medicine.
3
I cannot agree. We do not know what we do not know, so it's invalid to say that scientific research will not be productive. Difficult, yes. Expensive, probably (which is a good reason to get government funding involved, as pharma is reluctant to invest in anything that doesn't promise profit). But not worthwhile? Highly unlikely. And by the way, the argument that as people gain more protection against disease they will undo the good work be behaving badly is a position without boundaries: it could have been applied just as easily to research into everything from X-rays to antibiotics with similar dire and counterproductive gloom.
45
" (which is a good reason to get government funding involved, as pharma is reluctant to invest in anything that doesn't promise profit)"
Then if that case, the "taxpayer" should get a share of the profits for anything that comes from government funding. while we all benefit from discoveries, it does come at a whopping cost . Just look at the cost of some drug treatments--astronomical costs every month paid for by insurance or not at high premiums that every insured person shares. there is NO free lunch.
Then if that case, the "taxpayer" should get a share of the profits for anything that comes from government funding. while we all benefit from discoveries, it does come at a whopping cost . Just look at the cost of some drug treatments--astronomical costs every month paid for by insurance or not at high premiums that every insured person shares. there is NO free lunch.
As an Epidemiologist, I agree with most of the author's points.
I am also very much aware that it has been less than 150 years since we discovered that germs cause a great deal of illness and mortality.
I will continue to eat healthy and to excercise but also think we have more to learn about health and illness.
I am also very much aware that it has been less than 150 years since we discovered that germs cause a great deal of illness and mortality.
I will continue to eat healthy and to excercise but also think we have more to learn about health and illness.
2
Those who are disease free and those who have devastating diseases will both be a healthier and live longer if they have good diets, exercise, put on their seatbelts, etc., etc., etc. Those with devastating diseases like cancers will die of their diseases unless cures are developed.
I can control my exercise and diet and other factors at my control to reduce my risk of dying. The author is making a big leap if he thinks we can personally control the diseases we may contract without research that proves it.
Go into any major cancer treatment facility in this country and they are loaded with people who have done the right thing and done the wrong thing. Some of them are going to respond to treatment and some of them are going to die and they will be in both groups through no fault of their own.
I can control my exercise and diet and other factors at my control to reduce my risk of dying. The author is making a big leap if he thinks we can personally control the diseases we may contract without research that proves it.
Go into any major cancer treatment facility in this country and they are loaded with people who have done the right thing and done the wrong thing. Some of them are going to respond to treatment and some of them are going to die and they will be in both groups through no fault of their own.
1
Actually, FTP, the "doctor" is a world renowned scientist and knows a great deal about the topic. But everyone is entitled to his/her opinion.
1
If the decision to put research into 'precision' medicine or to put it into 'solving messy problems' the author might, but barely, have a point. But policy is never an either/or issue. This means that in the end the author is arguing for a 'do nothing' approach. I have no idea if this research will yield immediate results but it will eventually yield results that, in the end, will benefit everyone.
People still want a pill (or better yet a surgery) to fix everything. Dr. Joyner points out (and most practicing physicians like myself know) that this is absurd. Our goals should be to have a healthier population. Targeting illnesses which cost us the most work days lost and years of life lost is the best way to do this. We already have the answers we are/have been looking for...and they are not in a bottle. Quit smoking, start exercising and lose weight. Don't drink and drive, wear your seat belt and a condom. Take your blood pressure pills as prescribed every day. Take your diabetes medicine every day. The new "cutting edge" is figuring out how to get populations to live healthier lives...not by finding a new cure. Hard to say this while people still die of cancer and CF...but population health should be where we spend federal dollars. I argue that this is a tougher problem that cannot be solved in a lab. Poverty, lack of education, unhealthy cultural practices/beliefs...these are the puzzles we must solve to make our population healthier and actually drive down the cost of healthcare.
1
I'd like to see piece like this published with references. Right off, it's hard to see how adding "snippets of risky DNA" to the collection predictors wouldn't help. Alone, the DNA may be a far weaker indicator than "Age, sex, and body weight," but predictive value might be nearly additive unless the snippets are better linked to age, sex and body weight, which wouldn't be the case unless a clinician did the statistics. Body weight and age are likely better indicators than gender, but we still use all three because they all help some. Similarly, I don't question the warfarin claim, but why not provide a reference?
Actually we'd do much better to focus less on "preventive medicine," which is built into every insurance policy and medical practice, and turn our resources to (a) people who have symptoms and need a diagnosis and (b) people with a diagnosis who need treatment.
"Preventive medicine" is nothing more than risk reduction medicine. You can be in perfect shape and still get diabetes or have a heart attack. You can get mammograms every year and still get breast cancer.
Most primary care doctors are so busy with diagnostic tests - and the system is busy chasing down false positives and incidentalomas - that sick people get sent to the ER, to an Urgent Care Center or to whatever doctor is available on short notice (usually the newest and/or least competent).
"Preventive medicine" is nothing more than risk reduction medicine. You can be in perfect shape and still get diabetes or have a heart attack. You can get mammograms every year and still get breast cancer.
Most primary care doctors are so busy with diagnostic tests - and the system is busy chasing down false positives and incidentalomas - that sick people get sent to the ER, to an Urgent Care Center or to whatever doctor is available on short notice (usually the newest and/or least competent).
1
Fixing defective genes has not been successful. That is not a reason to give up trying. We've only started. It is very much worth doing. Given all we have advanced recently, there is every reason to think an effort will pay off.
We have not been able to figure out the complex connections between genes and risk factors, which are more complex than we'd expected. Again, that is not a reason to give up. We've learned a lot already about the complexity of gene influence. There is every reason to think we'll learn more. We've done so much, that giving something up as "impossible" is an unreasonable attitude.
What we've always done works better than a new idea we are still working out. Sure. Of course. That's why we are still working it out.
This article can be summarized as "Give up. Don't even try." That is unworthy.
We have not been able to figure out the complex connections between genes and risk factors, which are more complex than we'd expected. Again, that is not a reason to give up. We've learned a lot already about the complexity of gene influence. There is every reason to think we'll learn more. We've done so much, that giving something up as "impossible" is an unreasonable attitude.
What we've always done works better than a new idea we are still working out. Sure. Of course. That's why we are still working it out.
This article can be summarized as "Give up. Don't even try." That is unworthy.
17
What the doctor, who by the way is not a scientist, does not understand is that scientific progress is not, and never has been a linear process. If you put a dollar into research, you don’t always get a dollar of progress in return. Research is complicated and filled with blind alleys and dead ends. If you study the history of science, it is obvious that most progress is essentially a series of paradigm shifts. For example, it took years of hard work and what appeared at the time to be wasted money, to discover the nature of the genetic code. When it was finally understood, there was a burst of progress about the nature of genes and their role not only medicine but in evolution as well. Abandoning current research in the human genome in favor of some other approach would be a disaster.
23
Given that Dr. Joyner runs a research lab at a leading medical institution, the claim that he is not a scientist appears somewhat poorly considered. Moreover, he is not advocating that current research be abandoned, but rather that there are other areas where limited government funding would be more likely to produce socially valuable results. There are plenty of pharma and biotech companies seeking the holy grail of personalised medicine because of the potential private payouts. Behaviour modification, which cannot easily be patented or sold, receives very little private research funding.
1
As it turns out, the physician who wrote this opinion page is a prolific scientist. He's most certainly not against studying genetics (or the human genome in your terms), but the amount resources being pushed toward something that may not pan out so well is what is being brought to the table for discussion.
1
Using genetic information to predict and prevent disease will yield limited returns, I agree. Most diseases are driven more by chaos theory than genetic predetermination.
Finding genetic ways to cure diseases could still yield spectacular results, however, especially in the area of cancer cure.
My husband has brain cancer. No genetic test could have predicted this. There is no cure with surgery or chemotherapy. Our protective blood- brain barrier limits chemistry effectiveness.
But people have been cured. Clinical trials on each coast have reprogrammed HIV and polio to tag cancer cells. These diseases have joyfully crossed our neural defenses for years. Reprogramming their genetics has been the first real hope for people like my family. We aren't the only ones. People suffering from other cancers have benefitted as well.
Forget the crystal ball, yes. But continue to fund the amazing research for cures when the unpredictable happens.
Finding genetic ways to cure diseases could still yield spectacular results, however, especially in the area of cancer cure.
My husband has brain cancer. No genetic test could have predicted this. There is no cure with surgery or chemotherapy. Our protective blood- brain barrier limits chemistry effectiveness.
But people have been cured. Clinical trials on each coast have reprogrammed HIV and polio to tag cancer cells. These diseases have joyfully crossed our neural defenses for years. Reprogramming their genetics has been the first real hope for people like my family. We aren't the only ones. People suffering from other cancers have benefitted as well.
Forget the crystal ball, yes. But continue to fund the amazing research for cures when the unpredictable happens.
4
Arguing against genome research by pointing out that "we almost certainly have more control over how much we exercise, eat, drink and smoke" seems very simplistic to me.
I, for example, have a gene mutation, - one that is not inherited but acquired by many in life - that causes extremely high platelet counts, a condition that doesn't have many side effects but can cause severe fatigue.
Before undergoing treatment for that condition, it would be very helpful to know the common denominator existing between all of those that have this genomic mutation. And that requires research and not just having to swallow aspirin or blood thinner to protect oneself form blood clots.
I, for example, have a gene mutation, - one that is not inherited but acquired by many in life - that causes extremely high platelet counts, a condition that doesn't have many side effects but can cause severe fatigue.
Before undergoing treatment for that condition, it would be very helpful to know the common denominator existing between all of those that have this genomic mutation. And that requires research and not just having to swallow aspirin or blood thinner to protect oneself form blood clots.
22
even if they could identify the basic gene sequence that caused your problem, providing a treatment is likely years away, because first they have to come up with a remedy, then it has to be tested, then it has to be approved for human use and that takes YEARS--and probably for good reason. How many new cancer drugs have been approved and what has been the time line? Some time ago, I read that it has been about 15 years since the last approved cancer drug came onto the market. And then we need to talk COST for the drug, because for some people money is more important than the lives saved by the drug. If we took the profit out of medicine things might be different but that is not now the case.
"even if they could identify the basic gene sequence that caused your problem, providing a treatment is likely years away".... And 100 years ago life saving antibiotics were years away..... "If we took the profit out of medicine things might be different"......If we took the profit out of medicine, the only people who could afford to do medical research would be scientists that were independently wealthy.
1
For all the reasoned arguments and prescription, Dr. Joyner fails to address the more relevant problem that our government is now led by conservatives who have an impassioned and overtly stated aversion to funding social science in nearly any form. However indirectly, this funding of research may still lead to therapies, and will add to the priceless cache of human knowledge. For now, Obama must reach for what is within reach. And we already have many of the answers to what motivates humans to change. Even the politicians agree on that. . .
6
This article remind me of the time not too long ago where a lot of people thought computers would never become popular.
33
The human body is a marvelous machine. We know so much and understand so little. The Westerners have just started looking into the symbiosis between our spiritual, mental, and physical health. We still marvel at the power of the mind to heal yet ignore its power to destroy.
I believe the key is balance between spirit, mind, and body. Each function based on what they are fed: garbage in garbage out... If we expect to conquer the diseases of today and to prepare for the diseases of tomorrow we must stop polluting our minds and body's with trash.
We trade expedient gain and pleasure for expected medical cures. We'll eat sewage and expect our medical profession to protect us from the effects. We fill our minds with drivel expecting the same salvation from our psychologists; a profession of best guess tactics and techniques.
We create the world we live in. We can change it to fix these problems.
Let's not put all of our eggs in this genetic basket...
I believe the key is balance between spirit, mind, and body. Each function based on what they are fed: garbage in garbage out... If we expect to conquer the diseases of today and to prepare for the diseases of tomorrow we must stop polluting our minds and body's with trash.
We trade expedient gain and pleasure for expected medical cures. We'll eat sewage and expect our medical profession to protect us from the effects. We fill our minds with drivel expecting the same salvation from our psychologists; a profession of best guess tactics and techniques.
We create the world we live in. We can change it to fix these problems.
Let's not put all of our eggs in this genetic basket...
1
Dr. Joyner has this right. Genomics has proven to be of limited value in most diseases. A 2009 NEJM paper from Johns Hopkins indicated the number of mutations for brain and pancreatic tumors were at least 60 PER TUMOR. And that the mutations between tumors were completely different. Then the 2012 paper from NEJM indicated that tumors were generating different mutations during treatment.
The genome is like an autopilot constantly attempting to correct cellular abnormalities. And in the case of cancer, the plane has lost a wing and the autopilot cannot fix that problem. The recent Science article indicating that 2/3 of cancers are random events is also an acknowledgement that genomics is of limited value. We spend of lot on genomics because we have the tools for analyzing genomics, not because we are making progress. Ditto for embryonic stem cells.
The NIH started the Single Cell Analysis program a few years ago. That is the right approach. We understand about 0.1% of how cells work and communciate. Until we understand the basic language of cells, we are going to make very little progress on many diseases like cancer. And cellular communication is chemical, physical and spatial meaning that a whole new approach to disease is needed.
The genome is like an autopilot constantly attempting to correct cellular abnormalities. And in the case of cancer, the plane has lost a wing and the autopilot cannot fix that problem. The recent Science article indicating that 2/3 of cancers are random events is also an acknowledgement that genomics is of limited value. We spend of lot on genomics because we have the tools for analyzing genomics, not because we are making progress. Ditto for embryonic stem cells.
The NIH started the Single Cell Analysis program a few years ago. That is the right approach. We understand about 0.1% of how cells work and communciate. Until we understand the basic language of cells, we are going to make very little progress on many diseases like cancer. And cellular communication is chemical, physical and spatial meaning that a whole new approach to disease is needed.
19
"Genomics has proven to be of limited value"
No, that has not been "proven." That is an assertion by someone who does not wish to try.
No, that has not been "proven." That is an assertion by someone who does not wish to try.
7
The error-correction built into the genome makes it extremely difficult to decipher, and relate specific genes to specific effects.
1
No doubt it is difficult. So?
That is far from "it can't be done." It is worth doing.
We've made progress that nobody would have believed possible in "impossible" things like forensic gene sequencing of old DNA. Difficult we've been doing regularly. "Impossible" takes a bit longer but gets done too.
That is far from "it can't be done." It is worth doing.
We've made progress that nobody would have believed possible in "impossible" things like forensic gene sequencing of old DNA. Difficult we've been doing regularly. "Impossible" takes a bit longer but gets done too.
Having been involved in biomedical research for the last 40 years or so, since I started my Ph.D. work, I have opinions as to why Dr. Joyner has got it so wrong. Individual behavior is indeed important, but to focus on changing behaviors and ignore basic biomedical research is a foolish idea. "Moonshot" medicine has, in fact, been incredibly successful. Take for example the human genome project, which he avoids discussing, and the "war on cancer" which he mentions. Both of these efforts have delivered us to the era of personalized medicine. The HGP pushed technology to the point that sequencing entire genomes is now realistic, timely, and cheap. The war on cancer lead to our understanding that every cancer is a unique disease with a unique collection of mutations. This is exactly why many cancer treatments have failed: generic, cytotoxic chemotherapy approaches do not take into account the unique mutational content of each cancer and so improvement in success rates has been slow.
But there are many new, targeted drugs being developed each year that have the ability to directly address, and treat, individual mutations. With the help of genome sequencing we now have the ability to map the genetic network of each, individual cancer so that targeted therapies can be prescribed as needed. This is not some pie-in-the-sky idea--it is happening now--and it won't be long before the individual success stories are reflected in the cure rates.
But there are many new, targeted drugs being developed each year that have the ability to directly address, and treat, individual mutations. With the help of genome sequencing we now have the ability to map the genetic network of each, individual cancer so that targeted therapies can be prescribed as needed. This is not some pie-in-the-sky idea--it is happening now--and it won't be long before the individual success stories are reflected in the cure rates.
96
Please provide hard data to support your assertions.
1) The author specifically discusses the human genome project and its utter lack of results in affecting clinical medicine. The era of "personalized medicine" is currently a hoax, as the author clearly points out in terms of the value of genetic sequence data in providing clinical value. Yes, the sequencing of a patient's entire genome is now faster but please give an example of how this affects either health or disease. Please do NOT use examples of known mutations, e.g. Huntingtons, CF, sickle, as these are not derivative of the HGP.
2) You smooothly and incorrectly switch from the authors point (which is expensive --and worthless-- somatic cell or germline sequencing for a patient) to sequencing tumors, which is of limited value (e.g. N-myc amplification in childhood neuroblastoma, Her-2-Neu in breast cancer, etc.) Tumor sequencing for specific known mutations is not what he is discussing, and is often used by proponents of the HGP as ammunition incorrectly.
3) Your hope for new, targeted therapies based on molecular signatures of cancers is unfortunately just that right now (and for the past 20 years), hope. With the exception of neuroblastoma, please provide examples of changes in the cure rates for common cancers based on molecular therapy. There are few to none.
4) The authors contention that behavioral and population changes affect disease and health more than misguided NIH spending is correct.
1) The author specifically discusses the human genome project and its utter lack of results in affecting clinical medicine. The era of "personalized medicine" is currently a hoax, as the author clearly points out in terms of the value of genetic sequence data in providing clinical value. Yes, the sequencing of a patient's entire genome is now faster but please give an example of how this affects either health or disease. Please do NOT use examples of known mutations, e.g. Huntingtons, CF, sickle, as these are not derivative of the HGP.
2) You smooothly and incorrectly switch from the authors point (which is expensive --and worthless-- somatic cell or germline sequencing for a patient) to sequencing tumors, which is of limited value (e.g. N-myc amplification in childhood neuroblastoma, Her-2-Neu in breast cancer, etc.) Tumor sequencing for specific known mutations is not what he is discussing, and is often used by proponents of the HGP as ammunition incorrectly.
3) Your hope for new, targeted therapies based on molecular signatures of cancers is unfortunately just that right now (and for the past 20 years), hope. With the exception of neuroblastoma, please provide examples of changes in the cure rates for common cancers based on molecular therapy. There are few to none.
4) The authors contention that behavioral and population changes affect disease and health more than misguided NIH spending is correct.
2
You have proven the author's point succinctly. How many life-years would be spared if there were no smoking? And after lung cancer develops how many life years are saved with genome sequencing? Where are the references? I understand these ideas threaten the heck out of those who survive on research funding, but be realistic. Both approaches are needed. The 'moon shot scientists' are very skilled at throwing out big words and big ideas. However, where is the 'down to earth' data?
1
"cytotoxic chemotherapy approaches do not take into account the unique mutational content of each cancer and so improvement in success rates has been slow.
But there are many new, targeted drugs being developed each year that have the ability to directly address, and treat, individual mutations. With the help of genome sequencing we now have the ability to map the genetic network of each, individual cancer so that targeted therapies can be prescribed as needed. "
I'm not a cancer researcher but a survivor. While they watched my cancer grow to a stage that it needed to be removed, not one member of the medical community suggested any sort of test to "map it". What did happen was that I lost most of my left lung, but thanks to a sharp-eyed radiologist and later to a great surgeon, I'm still here.
The question with regard to your objections to Joyner's article , if the capabilities are there, why are people like Angelina Jolie and "her followers" having double mastectomies when the BRAC1 and BRAC2 genes have been known for quite some time. They seem to occur often among certain groups of people so wouldn't it be wise to work on these genes?
The other side of long-term research projects is that they tend--I think--to turn into long term careers without the push to "cure" anything. It becomes a job like any other. Pardon me if I seem a bit cynical.
But there are many new, targeted drugs being developed each year that have the ability to directly address, and treat, individual mutations. With the help of genome sequencing we now have the ability to map the genetic network of each, individual cancer so that targeted therapies can be prescribed as needed. "
I'm not a cancer researcher but a survivor. While they watched my cancer grow to a stage that it needed to be removed, not one member of the medical community suggested any sort of test to "map it". What did happen was that I lost most of my left lung, but thanks to a sharp-eyed radiologist and later to a great surgeon, I'm still here.
The question with regard to your objections to Joyner's article , if the capabilities are there, why are people like Angelina Jolie and "her followers" having double mastectomies when the BRAC1 and BRAC2 genes have been known for quite some time. They seem to occur often among certain groups of people so wouldn't it be wise to work on these genes?
The other side of long-term research projects is that they tend--I think--to turn into long term careers without the push to "cure" anything. It becomes a job like any other. Pardon me if I seem a bit cynical.
Does the medical profession care about medicine more than money? "Precision medicine" will cost a lot.
Don't worry, Joyner is an anesthesiologist. That's a real cash cow. Oncology isn't. Also, oncologists ironically face a slightly elevated cancer risk.
You can tell where this guy's priorities are from his specialty. And this Op-Ed.
Money, money, money!
You can tell where this guy's priorities are from his specialty. And this Op-Ed.
Money, money, money!
Totally agree. Most of the chronic diseases of Western Society are predominantly diseases of lifestyle. Treating these maladies with drugs and procedures is incredibly expensive and ineffective ( kind of like our militaristic and interventional foreign policy.
Genes are not immutable, they can be turned and off. Dean Ornish et al demonstrated that after three months of lifestyle interventions, early prostate cancers can be reversed! The function of over 500 genes were altered. Genes that stimulated cancer and inflammation were turned off and genes that decrease inflammation, cancer and oxidative stress are turned on. No drug can do this. Genes load the gun and environment pulls the trigger.
Genes are not immutable, they can be turned and off. Dean Ornish et al demonstrated that after three months of lifestyle interventions, early prostate cancers can be reversed! The function of over 500 genes were altered. Genes that stimulated cancer and inflammation were turned off and genes that decrease inflammation, cancer and oxidative stress are turned on. No drug can do this. Genes load the gun and environment pulls the trigger.
22
Charles glad you mentioned Ornish's work on lengthening telomeres to reverse prostate cancer (and heart disease too) through a Physician Supervised Integrated Lifestyle Program (approved by Medicare in 2010).
The four elements of this program are:
• Low-fat, plant-based diet
• Regular moderate exercise
• Stress management (such as mindfulness, meditation, yoga, tai chi)
• Group emotional support
Since these techniques have been used effectively for thousands of years, maybe it's time for medical research (moonshot or crap shoot) to pay more attention to psychosocial factors, which have a significant impact on biochemistry and health--and what medications or anesthesia might work best for an individual.
The four elements of this program are:
• Low-fat, plant-based diet
• Regular moderate exercise
• Stress management (such as mindfulness, meditation, yoga, tai chi)
• Group emotional support
Since these techniques have been used effectively for thousands of years, maybe it's time for medical research (moonshot or crap shoot) to pay more attention to psychosocial factors, which have a significant impact on biochemistry and health--and what medications or anesthesia might work best for an individual.
You have forgotten that many of the world's most lethal diseases are either bacterial or viral and have little to do with either genes or lifestyle, unless, by lifestyle, you mean being in an environment where there are individuals with contagious diseases, being at the wrong place at the wrong time.
Wow! What well thought out responses. What I have found to be most beneficial and impacting the quality of care is "listening" and learning what the goals are of patients and families. We can then create a plan which is most often followed, understood and effective.
Precision Medicine is certainly important for the future; but, reduction in society's anxiety would be more effective. We would then impact deaths and injuries from domestic violence, the need for gun ownership, and self medicating with drugs. A tall order but within reach. As stated Big Pharma cannot achieve this.
Precision Medicine is certainly important for the future; but, reduction in society's anxiety would be more effective. We would then impact deaths and injuries from domestic violence, the need for gun ownership, and self medicating with drugs. A tall order but within reach. As stated Big Pharma cannot achieve this.
3
Precision medicine is an appealing concept, but probably would not be needed if everyone ate well and exercised. If every citizen in this country maintained a
BMI < 25, moderately exercised, rode in automatic cars, avoided tobacco and minimized or shunned fast food, believed in nature, read the classics, and avoided trashy publications / television we would have a more reasonable and wealthy society.
BMI < 25, moderately exercised, rode in automatic cars, avoided tobacco and minimized or shunned fast food, believed in nature, read the classics, and avoided trashy publications / television we would have a more reasonable and wealthy society.
2
An important issue here is the relative value of the investment into genetics. The current political climate at the NIH, lead by Francis Collins who is devoted to genetics, is to spend money on genetic research at the expense of hypothesis driven discovery. Genetics has provided a wonderful roadmap to follow, but the map is largely drawn now. Continued wasted spending on this approach continues to prove it will not solve most common human disease. However, the NIH continues to funnel funding into this descriptive approach rather than ensure the advancement of the next generation of creative thinkers. It is time for a change at the NIH.
1
I always laugh when Eric Topol, MD proselytizes the advantages of genetic translation medicine for a future of tricorder based personalized medicine.
Doctors can't ever write for 'personalized' prescriptions due to health insurance company rationing of drug formularies for profit. Clearly there's no evidence that these same corporations will allow for personalized genetic based diagnostics and treatments.
American health care would be best served if it prioritized getting access to safe, quality and affordable health care for it's 30 million uninsured citizens and 100 million under insured citizens one illness away from bankruptsy or death.
While the siren song of genetic based medicine has guided doctors and researchers for a few decades, the benefits have not outweighed the costs, and at this point in time, with so many Americans unable to access even basic health care due to redistribution of health care funding away from patients and doctors into the coffers of the insurance, pharma, med mal and EMR/EHR companies, we must assume that clinical outcomes would be best improved by just getting our citizens in to see a doctors first for a good history and physical exam, before we analyze their DNA in a laboratory.
Doctors can't ever write for 'personalized' prescriptions due to health insurance company rationing of drug formularies for profit. Clearly there's no evidence that these same corporations will allow for personalized genetic based diagnostics and treatments.
American health care would be best served if it prioritized getting access to safe, quality and affordable health care for it's 30 million uninsured citizens and 100 million under insured citizens one illness away from bankruptsy or death.
While the siren song of genetic based medicine has guided doctors and researchers for a few decades, the benefits have not outweighed the costs, and at this point in time, with so many Americans unable to access even basic health care due to redistribution of health care funding away from patients and doctors into the coffers of the insurance, pharma, med mal and EMR/EHR companies, we must assume that clinical outcomes would be best improved by just getting our citizens in to see a doctors first for a good history and physical exam, before we analyze their DNA in a laboratory.
5
If you take what Mr. Pollan said -- "Eat food, not too much, mostly plants" -- and add, "move around a bunch" and "don't smoke, and drink only a modest amount of wine", that's pretty much it. The problem is that many people just don't want to hear that.
Still no guarantees, of course. Like Redd Foxx said, "All those health food nuts are gonna feel stupid when they're lying in the hospital, dying of nuthin'."
Still no guarantees, of course. Like Redd Foxx said, "All those health food nuts are gonna feel stupid when they're lying in the hospital, dying of nuthin'."
How many of the diseases in question are affected by lifestyle choices such as diet, exercise, etc? We could spend an increasingly large portion of government budgets treating preventable diseases, but why would we?
Why not add a medical tax to deep fried butter and barcaloungers and fund the research that way.
Why not add a medical tax to deep fried butter and barcaloungers and fund the research that way.
While "moonshot" medicine will continue to attract funding, more mundane efforts to inform the public about healthy lifestyle changes will have to make do on "shoestring" budgets. No single cause can account for the paltry resources allocated for prevention compared to headline-grabbing pharmaceuticals and esoteric medical research. But some of the factors at play are identifiable: the medical model relies heavily on treatment and relatively little on prevention; this model is inculcated in medical school students, whose education is partially subsidized by drug companies; government funding reinforces this model by financially rewarding treatment while doling out pittances for prevention; urging the public to cut down on meat, poultry, eggs, dairy, soda, or candy draws intimidating counterattacks from each threatened industry; it is commonly supposed that it's not possible to persuade people to change eating and drinking habits, and that most people would rather take a pill than change their lifestyle. These and other factors seem to ensure that the status quo in medicine and medical research will remain basically unchanged for the foreseeable future.
It would be more impressive if we started researching and regulating all the ways our use of chemicals and pollution poison our health. The US gov't does not adequately research or regulate the chemicals found in our day to day environments. But that would require acknowledging that we are responsible for our environment and how our destruction of it affects our health. A simple example is the addition to our food supply of high fructose corn syrup and the resulting epidemic in diabetes. Why allow high fructose corn syrup in food? Oh, wait, there's a profit to be made.
2
Research is good -- as a general rule. However most all the problems we face are problems we create through our worshipping those who exhibit the greatest amount of greed, avarice, and sociopathic behaviors. Why do we spend billions to find cures for disease while we allow those that profit off of, for instance, pharmacuticals such as endocrine disrupters, to permeate the water we drink creating these same diseases; shouldn't we berequiring those profiting off these same chemical to cover the FULL COST of creating and disposing of their products? Same for power plants that generate poisonous mercury that ends up in our food. Same holds true for auto emissions. Same holds true for...
Until we stop allowing the 0.1% from increasing their wealth by making all of us ill, we will always be spending billions, if not trillions, to try to "cure" the ills we could have prevented in the first place -- and for much less cost.
Until we stop allowing the 0.1% from increasing their wealth by making all of us ill, we will always be spending billions, if not trillions, to try to "cure" the ills we could have prevented in the first place -- and for much less cost.
6
Once upon a time virtual reality was going to change the world. Then it was superconductors. Or cold fusion. More recently we had nanotechnology and quantum computing.
Nature is complicated and human intelligence is not infinite. One can never tell if a field of research is going to deliver miracles or nervous breakdowns, but for the most part it consist of tiny incremental advances made by 100's of journeyman researchers conducting 1000's of failed experiments. The fad of the moment often promise much but deliver little.
Nature is complicated and human intelligence is not infinite. One can never tell if a field of research is going to deliver miracles or nervous breakdowns, but for the most part it consist of tiny incremental advances made by 100's of journeyman researchers conducting 1000's of failed experiments. The fad of the moment often promise much but deliver little.
6
The new science of epigenetics indicates that our genes are not necessarily our destiny; genes get turned on or off based on our diets, lifestyles and environment. It's very convenient to think that our genes are our destiny and that we can't do anything about it. Consider family history. We tend to follow what we learned from our parents in terms of diet and lifestyle. These elements determine which genes are turned on or off (in addition to chemicals in our air, water, food, and personal care products). Studies of identical twins that have lived apart and have different lifestyles, etc., have different lifespans and disease profiles. If genes were immutable, you would not expect that.
Ultimately, what really matters is to to get the nutrients our bodies need to heal and repair, exercise appropriately, drink clean water, and avoid the negatives like smoking, excess alcohol, and minimize our interactions with mainstream medicine and the deadly drugs it peddles.
Ultimately, what really matters is to to get the nutrients our bodies need to heal and repair, exercise appropriately, drink clean water, and avoid the negatives like smoking, excess alcohol, and minimize our interactions with mainstream medicine and the deadly drugs it peddles.
15
Lamark and Lysenko are vindicated, eh?
1
Probably Lisenko not (BTW, he was a communist with bad connections), but Lamarck, yes, all the way! Even Darwin said so...
Progress has to continue in all directions I.e healthy living and healthy eating as well as medical advances and understanding of cellular events.
Hopefully the cuculmination of all these efforts would lead to better and healthier human beings down the centuries. This doesnot mean we stop progress in education and healthcare and social reforms all over the world so that majority of world citizens have better lives.
Hopefully the cuculmination of all these efforts would lead to better and healthier human beings down the centuries. This doesnot mean we stop progress in education and healthcare and social reforms all over the world so that majority of world citizens have better lives.
1
Couldn't agree more with Dr. Joyner.
A lot of medicine's costs have nothing to do with healthcare, but rather with social problems that fall on the doorstep of the healthcare system.
What we need is a "moonshot" to address social issues.
A lot of medicine's costs have nothing to do with healthcare, but rather with social problems that fall on the doorstep of the healthcare system.
What we need is a "moonshot" to address social issues.
18
Dr. Joyner misses two major points: 1. The connection between basic research and improved health is not linear. 2. Sometimes, but not always, genetic research may make an impact. For the second point, consider APO-L1, a protein which appears to cause kidney failure in people of west African descent. This was discovered by geneticists and, with a little investment, may curtail sharply the rate of kidney failure in this vulnerable population.
76
You may want to define "linear" and "non-linear" for your colleague. Pretty sure he has no idea what you are talking about.
1
Dr Joyner recognized both points. Reread the article. It isn't helpful to set up straw men to obfuscate the issue.
The ironic part is how much behavior influences genes.
Certainly we need better treatments for rare genetic diseases and a better understanding of differential responses of chemo to our different genetic codes.
Understanding that exercise and diet and avoidance of alcohol and tobacco would take away about 75% of the admissions to the hospital is however more important.
Healthy diets, moderate to vigorous exercise actually change our DNA for the better.
Most of the suffering is due to our horrific diet( I include smoking and ETOH in diet) not an exotic mystifying genetic answer lying like a needle in the haystack.
Certainly we need better treatments for rare genetic diseases and a better understanding of differential responses of chemo to our different genetic codes.
Understanding that exercise and diet and avoidance of alcohol and tobacco would take away about 75% of the admissions to the hospital is however more important.
Healthy diets, moderate to vigorous exercise actually change our DNA for the better.
Most of the suffering is due to our horrific diet( I include smoking and ETOH in diet) not an exotic mystifying genetic answer lying like a needle in the haystack.
31
Do you have citations for research studies supporting those claims?
2
On the one hand you see the need for better treatments which are only going to come from research.
Most people do understand the benefit of diet and exercise but most people apparently don't do what they should some of the time or all of the time.
Blaming people who have cancers because of their lifestyle as a reason not to fund new innovative approaches to treatment seems at best short sighted. The fact is people who live healthy lifestyles and unhealthy lifestyles who get cancer are being dripped with Chemo at price tags running from 5 to 30K an infusion.
We are spending billions treating people with metastatic disease simply to extend their life by a year, 2 or 3. These people need a moonshot and they, us or their insurance companies are paying billions for treatments we know won't cure them.
Most people do understand the benefit of diet and exercise but most people apparently don't do what they should some of the time or all of the time.
Blaming people who have cancers because of their lifestyle as a reason not to fund new innovative approaches to treatment seems at best short sighted. The fact is people who live healthy lifestyles and unhealthy lifestyles who get cancer are being dripped with Chemo at price tags running from 5 to 30K an infusion.
We are spending billions treating people with metastatic disease simply to extend their life by a year, 2 or 3. These people need a moonshot and they, us or their insurance companies are paying billions for treatments we know won't cure them.
The day to day work of trying to change behavior by frontline clinicians in communiities remains underfunded and under appreciated. My work with a family with limited means and burdened with chronic illness, including mental health problems, to begin to make changes that will have a long term positive effect is a struggle for them and for the family doctors who work with them. Joyner is exactly right. Americans refuse to provide basic access to care while funding ideas that, even if they are correct, will be "available" in a system that excludes care for people who would benefit the most. As a country, we believe drugs will solve all problems, but the ones who benefit are PHARMA, not communities.
47
Exactly right. We already know - from scientific studies - that children watching advertising for sugared beverages is a major risk factor for their development of obesity and diabetes. Why are there no proposals to prohibit this advertising, which is as toxic as that for tobacco? Because the politicians don't want to upset Coca Cola, Kraft Foods and Big Ag.
Same for cancer. Instead of curtailing the toxic brew of chemicals we inhale and ingest every day, the EPA and FDA let BASF, Dow and Monsanto run wild.
We do need increased biomedical research, for example in microbiology, basic cell biology and neuroscience.
But most importantly, we need implementation of the very clear scientific knowledge we already have on how to prevent the most common deadly diseases.
Same for cancer. Instead of curtailing the toxic brew of chemicals we inhale and ingest every day, the EPA and FDA let BASF, Dow and Monsanto run wild.
We do need increased biomedical research, for example in microbiology, basic cell biology and neuroscience.
But most importantly, we need implementation of the very clear scientific knowledge we already have on how to prevent the most common deadly diseases.
40
This is not a certain cure. However, it will lead to many avenues which will help either control or cure the disease of genetic nature. War on cancer resulted in increased support for research grants by NIH, NSF, etc to the academic community to study cancer and possibly come up with the the drugs and means to cure certain cancer. It gave boost to biotech companies to do the same. As a result, today, cancer has become a less frightening word! So, lets cool it. Lets not jump to criticize the support to open new avenues to trat these diseases.
30
Precision medicine is being researched at most major universities, with top programs at all the usuals -- Harvard, Stanford, Cal, and MIT. My daughter is enrolled in such a program in which your employer, the Mayo Clinic, participates. There's billions of dollars of private and public money invested in hopes that you are wrong. It's pretty clear that no one will lightly concede that you are right. Put your gloves on. It's a fight to the finish.
2
We can improve the true health and wellness of the population by enhancing communication with our doctors as individuals with both personal and societal benefits. No "moonshot medicine" is required.
An honest doctor will tell you health outcomes are driven more by what the patient does than by what the doctor says.
Ask yourself these questions--
--Does each health provider I see know the entire list of medications I take, the conditions I have now and those I have had? (Medical errors are driven more by ignorance than by intent.)
--Does each health provider I see understand what MY goals are for my health? (Doing tests or procedures to encourage changes I will not make is just burning money.)
Work on these foundational discussions will work miracles in focusing and improving health for us all.
Doug M, MD
An honest doctor will tell you health outcomes are driven more by what the patient does than by what the doctor says.
Ask yourself these questions--
--Does each health provider I see know the entire list of medications I take, the conditions I have now and those I have had? (Medical errors are driven more by ignorance than by intent.)
--Does each health provider I see understand what MY goals are for my health? (Doing tests or procedures to encourage changes I will not make is just burning money.)
Work on these foundational discussions will work miracles in focusing and improving health for us all.
Doug M, MD
6
You're not typical! Last time I declined a test the doc went into a sales pitch that would have done justice to a used car salesman!
Bare-foot medicine versus the best possible? Only the wealthy will be able to afford the best, but why settle for second-best? Various bowel disorders and sickle cell trait are some examples that are worth identifying for early treatment. Why limit the list?
1
Thank you for this editorial. I would love to see an explanation of why we seem to be so fixated on genetics. It doesn't seem like it has brought a lot of benefits, but we are paying a huge opportunity cost by focusing on genetics at the expense of everything else.
I suspect that one reason for focusing on genetics is because corporations don't want us looking at environmental causes of illness. We have shockingly little knowledge (at the public level) about how preservatives, artificial colors, pesticides (like RoundUp), fracking chemicals, etc, affect our health. Our government supported health research has been corrupted by a bias towards protecting industry instead of protecting people's health.
There was an editorial recently in the Washington Post about people dying if the Affordable Care Act is repealed. The headline of the editorial was: People will die...that's okay." This is apparently the mindset at the highest levels of decision-making: a certain percentage of death and harm -- unnecessary, preventable death and harm -- is acceptable to these people if it allows them to save tax dollars or redirect them somewhere more agreeable (e.g. war).
Sometimes alternative medicine is way ahead because mainstream medicine refuses to look (e.g. on the dangers of sugar). Are we funding high-tech genetic research because we really believe it is the best possible chance for saving lives? Or because it is the most profitable?
I suspect that one reason for focusing on genetics is because corporations don't want us looking at environmental causes of illness. We have shockingly little knowledge (at the public level) about how preservatives, artificial colors, pesticides (like RoundUp), fracking chemicals, etc, affect our health. Our government supported health research has been corrupted by a bias towards protecting industry instead of protecting people's health.
There was an editorial recently in the Washington Post about people dying if the Affordable Care Act is repealed. The headline of the editorial was: People will die...that's okay." This is apparently the mindset at the highest levels of decision-making: a certain percentage of death and harm -- unnecessary, preventable death and harm -- is acceptable to these people if it allows them to save tax dollars or redirect them somewhere more agreeable (e.g. war).
Sometimes alternative medicine is way ahead because mainstream medicine refuses to look (e.g. on the dangers of sugar). Are we funding high-tech genetic research because we really believe it is the best possible chance for saving lives? Or because it is the most profitable?
31
I put precision medicine in the same category as deep space research. Neither appears to offer an immediate or direct benefit to us here and now, but funding for these sciences is still important. One day we will be using gene therapies to virtually wipe out diseases or abnormalities, and one day we may be colonizing another world. We know now that eating fruits and vegetables, exercising regularly and avoiding smoking or excessive drinking is the best way to live, yet many people don't do that anyway. We could pour a trillion more dollars into telling people that, and they still won't do it. Allocating a chunk of money to pie-in-the-sky science may seem wasteful, but it wouldn't be any more useless than another studyy telling people that carrot sticks are better than chocolate bars.
64
Sure. I would prefer if your 'in the future' line of reasoning were funded by you. Mostly by you.
What is the link between the mind and the body? It is wonderful to have knowledge about the mechanics of genetics and I wish these researchers all the best. But vast new horizons await when we begin to link consciousness with matter.
7
The money should be spent on developing a jobs strategy for the country. If more people are employed at decent paying jobs, health will follow.
5
not necessarily, more wealth brings more disease without proper education and public health intervention
Just as the Human Genome project created great hope for the cure of diseases, continuing the exploration with precision medicine, while expensive, doesn't mean that it's not worthwhile to see what comes out of it. But Joyner is correct that the time tested ways mentioned to improve health overall (diet and exercise) will never take a back seat to any modern medical advance, at least insofar as the general population is concerned.
In the area of having "more control over how we exercise, eat, drink and smoke than we do over our genomes", the primary problems have already been identified. There's Big Food advertising and a complicit government that publishes what is essentially a dietary disaster plan. The incidence of life threatening diseases in this country could be cut significantly if people were encouraged to consume a lot less meat, dairy, sugar, and processed foods. To say that we are consistently misguided as to what are the only adequate protein and calcium sources in our diets (ie meat and dairy) would be an extreme understatement.
Smoking and drinking are stress induced and/or addictive, at least in their abusive forms. Not sure that this is what Joyner is advocating, but we do need stronger mental health care resources in this country to assist in the education and therapy efforts required for these problems, as well as for eating disorders. But these battles have to be fought in the trenches with real human beings, not in the lab.
In the area of having "more control over how we exercise, eat, drink and smoke than we do over our genomes", the primary problems have already been identified. There's Big Food advertising and a complicit government that publishes what is essentially a dietary disaster plan. The incidence of life threatening diseases in this country could be cut significantly if people were encouraged to consume a lot less meat, dairy, sugar, and processed foods. To say that we are consistently misguided as to what are the only adequate protein and calcium sources in our diets (ie meat and dairy) would be an extreme understatement.
Smoking and drinking are stress induced and/or addictive, at least in their abusive forms. Not sure that this is what Joyner is advocating, but we do need stronger mental health care resources in this country to assist in the education and therapy efforts required for these problems, as well as for eating disorders. But these battles have to be fought in the trenches with real human beings, not in the lab.
2
Research often finds results that do not conform to its aim. On the other hand, research often discovers variant approaches and data that yields worthy results. It is a very expensive endeavor and much investigation should be done through a collective effort such as the NIH. Let's not throw the baby out with the bath water. Genetic research may have plateaued, but rewards the likes of penicillin, found serendipitously, prove that the ripeness of time and eliminating the non-starters, validate not taking one's eye off the prize.
4
>
Underneath the surface this is all just more fodder out of the immortality complex that plaques Man, a never ending neurotic flight from death.
This is an extremely costly dilemma for our health care system, because it will only increase the length of the dying process, not of living wholesomely. This is the central thesis of Atul Gawande's best selling book, Being Mortal: medicine and what matters in the the end.
“If I take death into my life, acknowledge it, and face it squarely, I will free myself from the anxiety of death and the pettiness of life - and only then will I be free to become myself.”
Heidegger
Underneath the surface this is all just more fodder out of the immortality complex that plaques Man, a never ending neurotic flight from death.
This is an extremely costly dilemma for our health care system, because it will only increase the length of the dying process, not of living wholesomely. This is the central thesis of Atul Gawande's best selling book, Being Mortal: medicine and what matters in the the end.
“If I take death into my life, acknowledge it, and face it squarely, I will free myself from the anxiety of death and the pettiness of life - and only then will I be free to become myself.”
Heidegger
9
Since the author is an anesthesiologist and physiologist, I would think that he would have particular affinity for an area of medicine that will being new attention to molecular and genetic biology and medicine. I expect that basic science findings will help providers in his specialty some day predict who is at risk for malignant hyperthermia when undergoing anesthesia for the first time. It will help design better anesthetic agents that work more precisely and allow for better control. His specialty will also gain expertise in pain control and addiction. It will add to knowledge about organ metabolism and oxygen utilization so elders can undergo surgery with less risk and have better recovery and outcomes.
This author is calling for a focus on health behaviors and choices and behaviors in groups- the macro view of health. That research is important as well but will not help him one bit as he administers anesthesia to his patient this morning, unless that patient has a history of smoking. A genetic understanding of obesity would help him intubate his patient however.
it is beyond my understanding why some people argue against basic science research simply because they cannot imagine an immediate return. If we had spent more money on health research in all spheres instead of weapon systems,
we wouldn't have to be choosing which 10 lines of inquiry are the most worthy out of 100 important ones, as the NIH funding panels must now do.
This author is calling for a focus on health behaviors and choices and behaviors in groups- the macro view of health. That research is important as well but will not help him one bit as he administers anesthesia to his patient this morning, unless that patient has a history of smoking. A genetic understanding of obesity would help him intubate his patient however.
it is beyond my understanding why some people argue against basic science research simply because they cannot imagine an immediate return. If we had spent more money on health research in all spheres instead of weapon systems,
we wouldn't have to be choosing which 10 lines of inquiry are the most worthy out of 100 important ones, as the NIH funding panels must now do.
136
You have missed his point. He is not dismissing the potential of of science to find treatments or cures on the basis of genetics but rather warning us, at large, to stop expecting a magical cure-all from the latest, sexiest, trendiest research, and ignoring the already proven common sense measures which may be "inconvenient" to us in this culture of "me first, and NOW".
5
"A genetic understanding of obesity would help him intubate his patient however." Er, what?
1
The author does not argue against basic science research at all; he just rightly says that it alone is not a panacea. He argues for research that will help make what we know already more effective. He is not alone, as the NIH has recognized the need to conduct practice-based research (Westfall JM, Mold J, Fagnan L. Practice-based research – “blue highways” on the NIH roadmap. JAMA 2007;297:403-406). It has become increasing clear that all science - soft and hard - will need to be brought to bear to address health issues. As Ron Heifetz has pointed out, there are technical solutions and there are adaptive solutions. Healthcare research needs to encompass both.
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)
Dr. Greg Henry, a brilliant physician and writer, wrote "medical care is a cultural/social event and not a scientific experience". No amount of scientific research will influence individuals' health choices (see Gail Collins' piece today which reminds people not to look for gas leaks with a match)... In practice I have found that hyperlipidemic patients on statins see the meds as carte blanche to eat all the cheeseburgers they want, diabetics on meds feel free to ignore diet and exercise, COPD patients use their inhalers to help them keep smoking... The medical-industrial complex tries to invoke science while dealing with a scientifically illiterate population, and the motive is profit.. Where genomic testing will find its niche is in raising premiums and limiting coverage to patients identified as "at risk" for disease. If people are horrified at the NSA's ability to peer into their cell phones, how will they feel about the NIH's ability to peer into their very DNA?
21
Having practiced medicine for over 30 years, you are spot on when you say "the motive is profit", particularly in this day and age. Yes, profit $$, along with the sin of pride (ego, power, control), has ruined medicine. The amount of money spent by Corporate America and its Vulture Capitalists (who drive the medical-industrial complex) on "OPTICS" to lure the physicians and their patients into false hope is disgusting and it is draining the medical system, not to mention their profits. The majority of the wasteful spending in medicine is because of this and Obama's grand plan has done nothing I can see to address it. However, there are still successes every day and I keep trying, fighting the good fight where I can.
5
This disturbing analysis rings true. The history of medicine in the modern era provides many instances in which researchers and clinicians stubbornly persist with treatments which originally showed great promise but were subsequently found to be ineffective if not downright dangerous. One example is the use of massive doses of powerful chemotherapies coupled with radiation and bone marrow transplants for women with advanced breast cancers during the 1980s. Even after the NIH and leading professional bodies determined that this very costly therapeutic approach was at best "experimental", a number of prominent oncologists persisted in its use as a standard therapy. They even assisted patients in suing health insurers who relied on solid clinical evidence in approving coverage, usually successfully, possibly in order to get their fees paid. Within a few years, of course, it was so plain that this approach was harming patients insttead of helping them that it stopped altogether.
3
This article is, as written, absolutely correct with one exception, it poses a too-limited definition of Precision Medicine. The FDA's handling of 23andMe, the personal genome company, essentially shutting it down as a diagnostic test, was exactly correct for all the reasons stated in this article. However, if Precision Medicine is instead defined as any diagnostic technology that dramatically increases specificity rather than sensitivity, all of the arguments change. This will indeed require more than a simple reading of a healthy genome and is scientifically more challenging. If done correctly, tests with extremely high personal specificity have the potential to dramatically lower costs and save lives.
1
23andme personal genome analysis is not a diagnostic test, and was never claimed to be one. The $99 test samples less than a tenth of one percent of a human genome.
The FDA resents any testing that doesn't follow from a New Drug Application from Big Pharma.
After all, we have the best FDA, EPA, Supreme Court and Congress that money can buy. Hahahaha.
The FDA resents any testing that doesn't follow from a New Drug Application from Big Pharma.
After all, we have the best FDA, EPA, Supreme Court and Congress that money can buy. Hahahaha.
The author is right that early detection and life style improvement accounts for much of cancer death reduction. However, technology advances overall clearly also make certain cancers chronic diseases. While genomic medicine itself may not have delivered as much as originally hoped. In certain cases, patients with certain genetic dispositions, such as BRAC mutations, do have life-saving choices in enhanced surveillance and optional preventive surgery. Clearly, support for broad based scientific research including epidemiology, as the author suggested, is important. Support for "moonshot" type projects is also important as breakthroughs will never happen without trying. While I agree with many points of the author, I do not agree with the "either-or" choice preposition of the author.
63
I may be wrong, but I don't recall the author mentioning "early detection."
The author has not considered the importance of a knowledge base of for healthy biological systems- from molecular interactions within a cell to organ systems to organisms, this is also one of the deliverables of 1000 Genomes and the Human Genome Project. What modern biomedical or basic research can achieve through inter-disciplinary teams of scientists- mathematicians, physicists, computer scientists, chemists, and biologists is a bright light that draws scientists to go after seemingly impossible questions- one of which is how to decode the response of an individual's genome to a disease and treatment of the disease. What was broken, was it fixed by the drug and what fragile systems were exposed and broken by the treatment ? The answers these teams will have a positive impact on humanity- in ways we cannot predict and over time- today, in a year, in 10 years or longer- who can say.
1
"breathroughs will never happen without trying"
You put this so eloquently, I will no longer comment. Thank you!
You put this so eloquently, I will no longer comment. Thank you!
1
Basic human behavior has a lot to say about our ill-health. Sugar, caffeine, nicotine, alcohol, salt and fat- all mildly to extremely addictive- drive a preponderance of ill health. Throw in a sedentary school and work environment, and we have a huge wave of ill-health in the USA. Helping more people- especially children- avoid smoking, eat healthy food, and exercise daily will contribute to our nations health, improve quality of life, and reduce health care costs . This would be a much wiser investment of scarce health dollars.
6
Before we state with moonshot medicine we need to look hard at some of the health problems caused by our own government. There are 33 countries with healthier populations than ours. There is a real possibility that this is caused by the excess of chemicals in our diet. From HFCS to aspartame we consume make believe foods.
For 10,000 years mankind depended on wheat for a substance food but in the recent past our government has replaced one of the best foods available with total crap. They grind the wheat, separate all the components and then only replace the starch. The fiber, wheat germ and other nutrients go to other uses. The result is Wonder bread. This is unconscionable.
The practice of lumping cane sugar with HFCS in outrageous but it is done over and over again. Some sugars like honey are perfectly good foods but one would never know it by reading the current propaganda which is dedicated to moving people from sugar to artificial sweeteners. Nowhere do they mention the 91 different illnesses caused by aspartame.
It is our government that is making us sick.
For 10,000 years mankind depended on wheat for a substance food but in the recent past our government has replaced one of the best foods available with total crap. They grind the wheat, separate all the components and then only replace the starch. The fiber, wheat germ and other nutrients go to other uses. The result is Wonder bread. This is unconscionable.
The practice of lumping cane sugar with HFCS in outrageous but it is done over and over again. Some sugars like honey are perfectly good foods but one would never know it by reading the current propaganda which is dedicated to moving people from sugar to artificial sweeteners. Nowhere do they mention the 91 different illnesses caused by aspartame.
It is our government that is making us sick.
4
I think you are confusing "our government" with the food industry. While it is sadly true that corporations and "our government," they are not - yet - identical.
6
For eight years the FDA refused to approve aspartame. On the day Ronald Reagan took office he (and Donald Rumsfeld) fired the head of the FDA and put in their own people. After aspartame was approved criminal charges were prepared against the company but the statue of limitations prevented their being filed.
see:
http://www.aspartametestimonials.com
see:
http://www.aspartametestimonials.com
1
This is almost entirely correct, however I have a few small quibbles:
1) The so-called "war on cancer" was an attempt to empirically try many drug combinations without a deep understanding of the biology of cancer. It did produce better treatments for a few rare types of cancer, but overall was a disappointment. A number of scientists were very critical of the approach, but were ignored
2) genetic differences in the inflamatory response have been found to predict the effectiveness of steroid use in treatment of TB. While this is not of significant medical importance in the US (there is almost no TB here, except for recent immigrants), it demonstrates the principal that for some cases genetic information is useful
3) Information on the type of breast cancer (e.g., whether the tumor expresses a hormone receptor) is useful in choosing appriopriate drug therapy
1) The so-called "war on cancer" was an attempt to empirically try many drug combinations without a deep understanding of the biology of cancer. It did produce better treatments for a few rare types of cancer, but overall was a disappointment. A number of scientists were very critical of the approach, but were ignored
2) genetic differences in the inflamatory response have been found to predict the effectiveness of steroid use in treatment of TB. While this is not of significant medical importance in the US (there is almost no TB here, except for recent immigrants), it demonstrates the principal that for some cases genetic information is useful
3) Information on the type of breast cancer (e.g., whether the tumor expresses a hormone receptor) is useful in choosing appriopriate drug therapy
7
Expectation is the real epidemic. Science in general and biotech in particular have always been a costly and painstaking proposition. And quite often, discoveries like aspirin are accidental and remain a mystery supported only by empirical data. And miracle drugs like thalidomide can become a scourge and then again rediscovered to function against other diseases and indications. However, dismissing moon shot medicine offhand is unjustified.
That said, one should accept the limitation of economics. Of course one can do whatever one wants if one has unlimited resources, but one doesn't have bottomless checkbook at one's disposal. That's why there exists the public-private partnership. Government should stay in basic research while private enterprises can find investors to go for the moon shot.
More importantly, the key is roles and expectations. Thinking 100% cure rate is unreasonable. While life is precious, especially to those whose love ones are facing life and death situations, there is a limit to which one can go. Expectation kills! Case in point, the recent outbreak of measles shows the faulty thinking of the anti-vax folks. They have used a few cases of questionable outcomes to justify their action of not immunizing their children, resulting in public health problem down the road. It is important we understand the roles of different players in society.
That said, one should accept the limitation of economics. Of course one can do whatever one wants if one has unlimited resources, but one doesn't have bottomless checkbook at one's disposal. That's why there exists the public-private partnership. Government should stay in basic research while private enterprises can find investors to go for the moon shot.
More importantly, the key is roles and expectations. Thinking 100% cure rate is unreasonable. While life is precious, especially to those whose love ones are facing life and death situations, there is a limit to which one can go. Expectation kills! Case in point, the recent outbreak of measles shows the faulty thinking of the anti-vax folks. They have used a few cases of questionable outcomes to justify their action of not immunizing their children, resulting in public health problem down the road. It is important we understand the roles of different players in society.
31
"discoveries like aspirin are accidental and remain a mystery"...... I wish people wouldn't do that. The discovery of aspirin may have been accidental, but how it works has not been a mystery for a rather long time.
3
Aspirin an accident? Hardly. Derived from white willow bark, used by Native Americans for centuries, at the very least.
In fact, a very large proportion of modern medicines come from indigenous knowledge of plants. So much for the need for advanced degrees and hundreds of millions (if not billions) in research.
And while you are trekking in the jungle, stealing the shaman's knowledge, be so kind, big pharma, as to not attempt to patent the plants and take away the local people's right to use them (yes, big pharma does that.)
Talk about biting the hand that feeds you!
In fact, a very large proportion of modern medicines come from indigenous knowledge of plants. So much for the need for advanced degrees and hundreds of millions (if not billions) in research.
And while you are trekking in the jungle, stealing the shaman's knowledge, be so kind, big pharma, as to not attempt to patent the plants and take away the local people's right to use them (yes, big pharma does that.)
Talk about biting the hand that feeds you!
2
Miriam....I worked in drug research for a big pharma. No one can patent a natural occurring plant. They can and do, through no small amount of effort and expertise, figure out if plants have biologically active components. They determine what the components are, how they work, modify them so they are more active, more selective, and less toxic, more bioavailable; then if they are really lucky they carryout extensive studies to determine how and when they can be safely used to effectively treat disease. In the end it is your choice, when you go to the hospital deathly ill, you can always refuse to be treated.
1