I am optimistic but skeptical. Why won't this testing be paid for by insurance. As usual insurance is only good - after you are really sick. So much for proactive behavior to take care of your health - in this country.
3
This is great news. As a breast cancer survivor I was encouraged by my oncologist to have the genetic testing because of my risk factors. My insurance balked but after several months paid for some of the costs. My share was well over the cost discussed here. This makes the test more available to women like me who have risk factors and want to know before they give up organs and undergo surgeries if it is statistically necessary.
3
BRCA testing and screening for other genetic mutations will be the new "preventative" care of the future. Our treatment plans for our patients will center around optimization of health depending on these risks. There are medications that can help decrease risks of breast cancer development; there is tubal removal surgery (a variation of the old "tying your tubes") which can decrease one's risk for ovarian cancer without removing the ovaries; and then targeted imaging and blood tests which will help detect who is at most risk of developing cancer while still in the pre-invasive state--and treating those patients selectively. Having a BRCA mutation as Angelina Jolie and others have--will not necessarily mean a life with cancer--or without breasts and ovaries.
7
It’s wonderful to see numerous commercial interests working to pool information on such an important project. Genetic testing differs from diagnostic testing which is a reflection of current physiology and biochemistry. Genetic variants can possibly be managed if we know they are there.
The FDA saw fit to stop 23andMe from providing health content, citing concern over the lack physician involvement and also over badgering of doctors for excessive follow-up testing. The $99 testing was done by LabCorp. MTHFR, which relates to folate, alone is often that much or more.
Astonishingly numerous websites offer ANY diagnostic lab test to the public, saying on one hand that the individual can order their own, and on the other that a doctor’s order would be provided. Neither the FDA nor any state agency has stepped in. Can the 23andMe legal team craft a powerful argument against the FDA’s hypocritical ruling?
The next generation of patient direct testing, despite laws and practice acts against it, is being driven by a new powerfully connected player in the lab industry. Is a CEA test within the reference range assurance of being free of gastric, pancreatic or colorectal cancer? Can you interpret the results of a Complement C4a test? The right path is to expand testing available without a physician to include a number of more basic tests for which most non-practitioners have some understanding. Let’s have a bit more common sense and decency where medical testing is involved.
The FDA saw fit to stop 23andMe from providing health content, citing concern over the lack physician involvement and also over badgering of doctors for excessive follow-up testing. The $99 testing was done by LabCorp. MTHFR, which relates to folate, alone is often that much or more.
Astonishingly numerous websites offer ANY diagnostic lab test to the public, saying on one hand that the individual can order their own, and on the other that a doctor’s order would be provided. Neither the FDA nor any state agency has stepped in. Can the 23andMe legal team craft a powerful argument against the FDA’s hypocritical ruling?
The next generation of patient direct testing, despite laws and practice acts against it, is being driven by a new powerfully connected player in the lab industry. Is a CEA test within the reference range assurance of being free of gastric, pancreatic or colorectal cancer? Can you interpret the results of a Complement C4a test? The right path is to expand testing available without a physician to include a number of more basic tests for which most non-practitioners have some understanding. Let’s have a bit more common sense and decency where medical testing is involved.
1
" Light Fantastic"..The growing field of biophotonics explore the interaction of biological system and light, with the aim ways to use light in medical breakthroughs. Funding in biophotonics research at Vanderbilt totals nearly $25 million. Recently, School of Engineering Dean Philippe Fauchet announced establishment of The Biophotonics Center at Vanderbilt to "regroup not only the faculty members who focus on biomedical applications inside and outside engineering, but those faculty members whose main research activities include other subfields of photonics." Forty faculty members from 25 academic deparments across Vanderbilt University Medical Center will be affiliated with the research center. The research mission encompasses three main areas: cancer photonics, neurophotonics and nano-biophotonics. The thematic focus will be on translational research of photonic technologies for biomedical research and clinical use. The center will develop educational programs for medical residents and fellows as well as graduate students and undergraduate students. Professor of Biomedical Engineering and professor of neurological surgery, has been named the center's founding director." At Vanderbilt we have establish a World-Class program that will span the range from the laboratory bench to the bedside and from the academic environment to the marketplace, " she says." This level of cross-campus collaboration. a unique feature of universitys academic. MY son is part of this research.
$250 is relatively cheap for this kind of test. My guess is that the company is willing to give up initial profits for this test because they plan to make a lot of money later on with the data they collect. They will have valuable genetic data and some basic health info from all of their clients which could later be sold to biotechs.
1
So what would be the recommendation to someone who's positive for a risky gene? I know that lifestyle modifications can significantly alter the chances of getting breast cancer or Alzheimer's (the APOE gene) EVEN in people who are positive for the risk gene. So it's not unmodifiable even at the point of a positive test. Genetic expression is altered by environment. Why not just advise that everyone do those protective things anyway, since they'll be helped whether or not they have the genetic modification? Or reduce carcinogenic chemicals in our food, air, and water, since KNOW those would tip it toward expression of that cancer-causing gene. Why not focus on prevention across the board?
2
People who test positive for genetic mutations may qualify for increased screening options (like adding breast MRI as a supplement to mammogram). These options are not recommended or covered by insurance for low-risk women. While healthy diet and behavior modification are helpful in reducing cancer risk, some high-risk women choose surgery to remove their breasts and/or ovaries for a more dramatic reduction in risk.
2
BRCA2
My mom's breast cancer was discovered about the time she was entering menopause (in her sixties! yikes!) Fifteen years later both of my older sisters discovered they had breast cancer within months of each other. One's was rather advanced, the other's was very early. Testing showed that while Mom and the oldest were free of any genetic markers, the sister with the more advanced cancer and myself were both positive for the BRCA2 mutation.
Of course cancer is NEVER fair - but it seems so cruel that my ultra healthy sisters and mom, all of whom breast fed babies and exercised regularly, had to deal with breast cancer while still young, while I, childless, obese, sedentary, with no dependents AND with the mutation, am cancer free. Both of us with the BRCA2 mutation had bilateral mastectomies and salping-oophorectomies.
Six years later we all are doing well, and our youngest sister just gave birth to a 10lb baby boy. She hasn't been tested yet. She wanted to wait until she was prepared to take preventative action, so she'll wait until after this second baby is weaned. We would NEVER have guessed this mutation was in our family line. Dad was one of seven children, his only sister discovered she had ovarian cancer when she was in her fifties. The mutation most likely came from my grandfather's mother, a woman named Sarah, who died young.
My mom's breast cancer was discovered about the time she was entering menopause (in her sixties! yikes!) Fifteen years later both of my older sisters discovered they had breast cancer within months of each other. One's was rather advanced, the other's was very early. Testing showed that while Mom and the oldest were free of any genetic markers, the sister with the more advanced cancer and myself were both positive for the BRCA2 mutation.
Of course cancer is NEVER fair - but it seems so cruel that my ultra healthy sisters and mom, all of whom breast fed babies and exercised regularly, had to deal with breast cancer while still young, while I, childless, obese, sedentary, with no dependents AND with the mutation, am cancer free. Both of us with the BRCA2 mutation had bilateral mastectomies and salping-oophorectomies.
Six years later we all are doing well, and our youngest sister just gave birth to a 10lb baby boy. She hasn't been tested yet. She wanted to wait until she was prepared to take preventative action, so she'll wait until after this second baby is weaned. We would NEVER have guessed this mutation was in our family line. Dad was one of seven children, his only sister discovered she had ovarian cancer when she was in her fifties. The mutation most likely came from my grandfather's mother, a woman named Sarah, who died young.
I agree with a lot of comments saying that testing is kind of a double edged sword without the means to do anything about it. But that's no reason at all to stop advancing testing. It is really the role of the testing innovators to do genetic counseling as well, or are those two distinct but related tasks? If the testing itself gets cheaper and we learn certain cancers and mutations might be more prevalent than we thought, doesn't that direct funding toward finding targeted treatment for those? Not now, necessarily, but in another 10-15 years it might pay off. I remember reading an article just a month or so ago about how they're starting to see success prescribing treatments for cancers based upon the mutations that drive them and not where they pop up in your body. Information is good to have.
My point is that we really shouldn't stop the process of improving testing just because it races ahead of other parts of a complex, important process. They will catch up, and may even be dragged forward precisely because the genetic testing has improved so much.
My point is that we really shouldn't stop the process of improving testing just because it races ahead of other parts of a complex, important process. They will catch up, and may even be dragged forward precisely because the genetic testing has improved so much.
8
When we get to point that whole DNA profile can be recorded for later analysis against genetic diseases etc then free recording at birth should happen. Many states have taken finger and footprint for decades. Information would be private until domestic incorporation or breeding contract at which time information release to breeding partners should be mandatory. ( Strong believer that marriage licensing are government intruding into religious and spiritual issues.)
1
Could someone help me set up a fund through which men could pay for this screening for women who cannot easily afford it? I for one would pay for a test since I am not at risk.
9
You might want to be screened as men can get breast cancer. Rare but does happen in families with BRCA mutations. If you have one of these mutations, you are at higher risk for other forms of cancer. You also can pass the gene mutation along to your children.
5
Interesting that Color Genomics' saliva collection device looks exactly like the device sold by 23andMe, the company that analyzes DNA for genealogy as well as genetically-linked diseases (23andMe formerly provided genetic testing for disease-related genes). The websites of both companies appear similar as well.
Given 23andMe's interest in correlating genetic types with diseases, is there a relationship between these two companies?
Given 23andMe's interest in correlating genetic types with diseases, is there a relationship between these two companies?
The device is made by a company called Oragene (recently bought out by DNA Genotek) and used by most personal genomics companies. Noninvasive DNA collection (from cells in the saliva) is the 'new' gold standard for DNA collection.
I have had five different types of cancers including bilateral breast cancer. Genetic testing has proven invaluable since it was subsequently discovered that I have Li-Fraumeni Syndrome, a mutation in the p53 gene, the major tumor suppressor of our DNA.
Genetic testing has always been expensive and difficult to get. There is no standard of care in recommending testing and it many cases it is patient driven. Insurance doesn't always cover it and this creates an economic divide in access.
While I applaud advances in testing discovery, ease of testing and the reduction of costs, I do believe that testing should be done under the eye of genetic counselors who are trained to navigate the process and provide concrete guidance in the event that the tests are positive. I think it should be done in a medical setting, not a strip mall.
I am wary of what can happen to my blood sample. We are well aware of genetic testing companies that have used specimens for their own research. While I do believe in medical progress, I do not want to see another patent of a genetic syndrome and test.
Having learned that I had a deleterious cancer causing mutation has enabled me to be part of a regular screening protocol and be part of a clinical study at the NCI. This has helped to discover a couple of new cancers early.
We are just at the beginning of the 'Genomic Revolution'. While simpler tests are welcome, not every provider should be doing them especially without patient counseling.
Genetic testing has always been expensive and difficult to get. There is no standard of care in recommending testing and it many cases it is patient driven. Insurance doesn't always cover it and this creates an economic divide in access.
While I applaud advances in testing discovery, ease of testing and the reduction of costs, I do believe that testing should be done under the eye of genetic counselors who are trained to navigate the process and provide concrete guidance in the event that the tests are positive. I think it should be done in a medical setting, not a strip mall.
I am wary of what can happen to my blood sample. We are well aware of genetic testing companies that have used specimens for their own research. While I do believe in medical progress, I do not want to see another patent of a genetic syndrome and test.
Having learned that I had a deleterious cancer causing mutation has enabled me to be part of a regular screening protocol and be part of a clinical study at the NCI. This has helped to discover a couple of new cancers early.
We are just at the beginning of the 'Genomic Revolution'. While simpler tests are welcome, not every provider should be doing them especially without patient counseling.
14
This is mostly diversionary.
Until Big Pharma acknowledges that their formulations of high dose estrogen birth control sold in the late fifties, sixties and seventies, largely caused the breast cancer epidemic that took a couple generations of women from us too early, we are spinning our wheels.
Moms, sisters, wives, aunts, cousins and friends sacrificed on the altar of big pharma profits.
They almost repeated their performance, prescribing estrogen "therapy" to menopausal women in the eighties and nineties, but someone finally objected: You are killing our women.
And Jolie, leading the campaign for self mutilation in women who have a gene mutation that shows up in women of Ashkenazi Jewish ancestry more than any other.
Just brilliant.
No showers required.
Until Big Pharma acknowledges that their formulations of high dose estrogen birth control sold in the late fifties, sixties and seventies, largely caused the breast cancer epidemic that took a couple generations of women from us too early, we are spinning our wheels.
Moms, sisters, wives, aunts, cousins and friends sacrificed on the altar of big pharma profits.
They almost repeated their performance, prescribing estrogen "therapy" to menopausal women in the eighties and nineties, but someone finally objected: You are killing our women.
And Jolie, leading the campaign for self mutilation in women who have a gene mutation that shows up in women of Ashkenazi Jewish ancestry more than any other.
Just brilliant.
No showers required.
3
I was diagnosed with breast cancer at the age of 50, after 10 years' worth of 'normal' annual mammograms. By the time of the annual mammogram that detected cancer, that cancer had spread out of the affected breast and into the axillary lymph nodes in my arm pit.
I underwent bilateral mastectomies, aggressive chemo, radiation, salpingo oppherectomy (removal of ovaries). I was not willing to die. My child still needed me, as did my husband and my family.
Ms. Jolie's mother and maternal aunt both died from breast cancer. Ms. Jolie tested positive for the BRCA mutation. I understand her decision to undergo prophylactic, preventive, surgeries.
One of my younger sisters had been diagnosed with breast cancer five years before I was. Had doctors known back then what is known now about breast cancer, and the significance of genetic testing; and had I known then what I know now - that I too would develop breast cancer - I would have done what Ms. Jolie opted for. I would have avoided having cancer in my body, and the horrible treatments that were necessary to eliminate as much cancer as possible from my body. I am left physically and emotionally scared and suffer from residual physical effects of treatments - those will last forever.
To call Jolie's decision 'self mutilation' is uncalled for, and lacks any compassion. I am not of Ashkenazi Jewish ancestry. Breast cancer can develop in anyone, of any race, religion, and in both sexes.
I underwent bilateral mastectomies, aggressive chemo, radiation, salpingo oppherectomy (removal of ovaries). I was not willing to die. My child still needed me, as did my husband and my family.
Ms. Jolie's mother and maternal aunt both died from breast cancer. Ms. Jolie tested positive for the BRCA mutation. I understand her decision to undergo prophylactic, preventive, surgeries.
One of my younger sisters had been diagnosed with breast cancer five years before I was. Had doctors known back then what is known now about breast cancer, and the significance of genetic testing; and had I known then what I know now - that I too would develop breast cancer - I would have done what Ms. Jolie opted for. I would have avoided having cancer in my body, and the horrible treatments that were necessary to eliminate as much cancer as possible from my body. I am left physically and emotionally scared and suffer from residual physical effects of treatments - those will last forever.
To call Jolie's decision 'self mutilation' is uncalled for, and lacks any compassion. I am not of Ashkenazi Jewish ancestry. Breast cancer can develop in anyone, of any race, religion, and in both sexes.
9
One thing I hate the most is why there aren't more government effort and funding for cancer research including genetic test. We are seeing private companies, including giants like Apple, Google and the Gates providing funding for cancer research because the government isn't doing as much as it should. It is disgusting to see federal government provide $5.5 billion a year in cancer research and $600 billion in war. Trim defense budget by $100 billion and see how much more research can be funded.
23
Not just cancer. Diabetes, Alzheimer's, other dementias, Parkinson's... $100 billion from defense to medical research would be money well spent.
4
I lost my Mom to breast cancer 25 years ago and an aunt 11 years ago. I have one wife, one daughter, six sisters, one aunt and bevy of female cousins. So far all breast cancer free.
1
I am concerned about women getting a negative genetic test and believing that they do not have or will never get breast cancer. Only 5-10% of cancer cases have the BRAC gene. A negative test does not mean that a woman should not get breast exam.
17
When I was diagnosed with early stage breast cancer in 2007 a genetic test - the Oncotype DX - was offered to me to determine my risks for reoccurrence. The cost was $3500. My results came back VERY LOW RISK, and so I was not given any chemo or radiation and considered "cured". 5 years (2012) later my hip fractured in 2 places. Breast cancer was the last thing I suspected. It turns out my breast cancer had spread to my hip, pelvis, thoracic vertebrae, and skull. In 2013 a 3.5 cm was found in my brain. I won't continue with the details of this saga; my point is, I don't trust these early detection "tests" anymore.
21
I remember a similar story. A friend of my mother's was misdiagnosed back in the 70s or 80s. Her cancer metastasized because, while the surgeons thought they'd gotten out the primary, it wasn't the primary. It was a metastases and when it got into her bones that was it.
The tests are good for some cancers. They are not a miracle. That is what so many of us misunderstand. There is always a chance that the tumor has spread. Some types, no matter how early they are caught, will kill. They are the ones that defy any type of treatment. I am sorry for what has happened to you. You are not alone.
The tests are good for some cancers. They are not a miracle. That is what so many of us misunderstand. There is always a chance that the tumor has spread. Some types, no matter how early they are caught, will kill. They are the ones that defy any type of treatment. I am sorry for what has happened to you. You are not alone.
12
I had no idea genetic testing was so expensive, but what isn't in our health delivery system. This test is a good thing and it is also a good thing that the results will be sent to a physician for professional oversight.
3
Meanwhile, 23 and Me offered testing for many conditions, including a few of the BRCA mutations, for $99 -- until the regulatory priesthood at the FDA determined that the public was no longer entitled to see health information.
One of the "risks" mentioned by the FDA was that women might have their breasts removed, solely on the basis of a $99 test. I can imagine the scenario: "Hello, doctor, I just got my 23 and me results and I'd like my breasts removed." "Why, certainly, ma'm, come right in and I'll take them off."
I found a lethal recessive in my own 23 and Me results, one that could preserve a child of mine from early death. I wonder how many women will die because the FDA has barred 23 and Me from offering this potentially lifesaving information?
One of the "risks" mentioned by the FDA was that women might have their breasts removed, solely on the basis of a $99 test. I can imagine the scenario: "Hello, doctor, I just got my 23 and me results and I'd like my breasts removed." "Why, certainly, ma'm, come right in and I'll take them off."
I found a lethal recessive in my own 23 and Me results, one that could preserve a child of mine from early death. I wonder how many women will die because the FDA has barred 23 and Me from offering this potentially lifesaving information?
16
You can still get that information (for any gene, including BRCA) if you know what you're doing. You can use the 23andme $99 kit and download the genetic information yourself, then submit the data to a service at MIT that gives you a readout of your mutations in a simple format.
9
23 and Me was fraudulent business commerce disguised as genetics and medical science. Every one dies when, where and how they are supposed to. Tomorrow is the unknown undiscoverable country. Commerce is not science.
We scientifically know a little about 5% of physical reality. But there is no unification of the quantum and the relative. While 70% of reality is dark energy whimsy and 25 % is dark matter magic.
You can always go to a traditional healer or a chiropractor or a fortune teller.
We scientifically know a little about 5% of physical reality. But there is no unification of the quantum and the relative. While 70% of reality is dark energy whimsy and 25 % is dark matter magic.
You can always go to a traditional healer or a chiropractor or a fortune teller.
4
23andme did not perform *comprehensive* BRCA testing. It only tested for the the three founder mutations common to those of Ashkenzi ancestry. Testing non-Ashkenazi patients (majority of the general population) for only those mutations and not the comprehensive BRCA test is highly irresponsible.
4
The genetic testing industry needs to SLOW DOWN. As a breast cancer survivor with a strong family history of breast cancer, I underwent panel testing only to find out I positive for a genetic mutation supposedly putting me at high risk for a different and deadly cancer of which I have no family history. And only to find out that medicine is not nearly as advanced as the testing and is not quite sure what to recommend to me. The anxiety and stress this has put me under has been incredible.
48
I support the move to make genetic testing less cost prohibitive, but with reservations. The role of genetic counselor is critical. When I did my BRCA testing, my genetic counselor took an extensive family history and made a thorough consideration of risk factors. She also explained the basics of genetic mutations and how they can replicate within an extended family. All of this was important in my ability to fully comprehend my test results and implications not just for my own children, but my siblings and their children also. While it may appear to be just a simple blood/saliva test, depending on the test result, the patient may have to make complex decisions based on imperfect information.
41
As humans, we make complex decisions based on imperfect information all the time. How is this any different?
4
A study by Finch showed that preventive mastectomy and oophorectomy conferred a dramatic 80 percent reduction in mortality in BRCA gene women with familial breast/ovarian cancer. These benefits are impressive. Some have advocated population wide screening “for unambiguously loss-of-function mutations with definitive effect on cancer risk.” Problems arise because there are hundreds of variations in BRCA gene mutations. A few are deleterious leading to aggressive cancers with poor prognosis. Many of the BRCA variations are benign of no clinical significance. This highlights the complexity and pitfalls of genetic screening for BRCA gene mutations. It would be unwise to undergo self testing with an online genetic testing service, which then yields a positive BRCA result, and then present oneself to a surgeon for preventive surgery. The BRCA mutation may be clinically insignificant, not requiring heroic measures. Evaluation by a genetic counselor is key here. This is a health professional skilled in BRCA genetics who considers the severity of the BRCA mutation, whether deleterious or benign, along with family history to hopefully arrive at a valid risk estimate and treatment recommendation. The Color Genomics home salivary kit, as mentioned above, requires a physician's prescription.
This is probably a good idea.
For more see http://jeffreydachmd.com/2015/03/angelina-jolie-brca-gene/
jeffrey dach md
This is probably a good idea.
For more see http://jeffreydachmd.com/2015/03/angelina-jolie-brca-gene/
jeffrey dach md
13
Is it really "scientific progress" or is "scientific profit" a more apt description?
The lines of study that are funded are those that will lead to a profit. We will always be offered more tests or more pills because they will put money into someone's pocket.
What about the study of epigenetics? Where are we on this amazing frontier? How might this field aid in our defeating disease?
What about taking some of the 1000's of chemicals that are used in our foods and to package our foods out? Wouldn't it be wise to identify causes first or will that take a bite out of the pharmaceutical industry.
We are not progressing- we are falling for discoveries that make others rich.
The lines of study that are funded are those that will lead to a profit. We will always be offered more tests or more pills because they will put money into someone's pocket.
What about the study of epigenetics? Where are we on this amazing frontier? How might this field aid in our defeating disease?
What about taking some of the 1000's of chemicals that are used in our foods and to package our foods out? Wouldn't it be wise to identify causes first or will that take a bite out of the pharmaceutical industry.
We are not progressing- we are falling for discoveries that make others rich.
19
Well, this is all over the place, but your basic assertion, that we are not progressing, isn't correct. Studies of outcomes show that we have made great progress in medicine and continue to. Many of us would be dead today if not for medical advances. In this case, genetic testing can certainly save lives.
12
Generating information by testing is only helpful if there is a clear evidence-based action to take with an abnormal result. Currently there are insufficient genetic counselors available to help those tested make the best decisions for themselves and their family members. I question if it is helpful for an individual to find out they have a mutation of "indeterminate significance" without the ability to understand what to do with that result. Are primary care providers going to take on the role of cancer risk counseling?
13
Dr. Mary-Claire King is creating a wave of change in this arena. Coming from a family with multi-generational breast cancer and living the experience of how genetic testing is withheld, even as the diagnoses pile up, these new, accessible testing options are so very welcome. What is needed is a clean end-run around the complicated and obfuscating genetic "counseling" appointments that seem designed to convince that the tests are for other people. Publicly advocating for this testing to be available to all women and finding avenues to reduce the cost and increase access is such important work. Thank you Dr. King.
21
I don't know if this will work but I applaud the willingness of companies to upend the Myriad approach to medicine, in which information is hoarded for competitive advantage even if that means advances in understanding of disease and treatment are slowed or halted.
14
Breast Cancer is such a common problem among women. I am thankful for the people who are tirelessly testing and working to find new ways to help us stop cancer.
So many people want to offer negative opinions, but I know they are doing something I could never do. Thank you medical community for dedicating your lives to saving lives.
So many people want to offer negative opinions, but I know they are doing something I could never do. Thank you medical community for dedicating your lives to saving lives.
19
And how will Big Pharma find a way to make this cost more/be illegal/be discredited?? Commerce rules in this country, which is why we won't get socialized medicine anytime soon.
7
Big Pharma and their lobbying of the FDA makes it impossible for individuals to access this simple test on their own. Instead, they make you go through a physicians office, and endure all the delays and fees that go along with that. For instance I had a doctors office that offered similar tests. You had to go to the doctor, visit their genetic counselor (pay hundreds of dollars because that service is not covered by insurance at all), go to the medical tester (hundreds in co-insurance), pay for the test (hundreds in co-insurance) and then GO BACK to the genetic counselor and/or doctor to get your results (MORE money). And you're wondering how they they're going to make it cost more?
This test COULD be direct-to-consumer. But I guess its not modern medicine unless at least 5 separate parties can get their cut.
This test COULD be direct-to-consumer. But I guess its not modern medicine unless at least 5 separate parties can get their cut.
14
I think I have to stop reading articles about new medical discoveries, be they tests, treatments or cures. Nothing really seems to advance the treatment of cancer. After billions of dollars poured into research, where are we? A new "discovery" every few months that eventually goes nowhere or helps very, very few people. We're still at the point where amputating body parts is the best "preventive" medicine available. Weren't we doing that at the dawn of the 20th century?
36
last year i found a small lump, malignant. i was treated and i am now back to my daily life. if not for the treatment, i would be on a steady road to an early death. maybe i will relapse, but i am living normally for now. this is progress, albeit not a cure. i am grateful.
9
Progress in cancer treatment is slow and difficult. However, we have learned a tremendous amount even within my lifetime, developed new methods of detection and treatment. Some cancers that were lethal when I was a boy can now be cured, in others, survival is longer. Once cancer, cancer of the cervix, can even be prevented with a vaccine! Not to mention all of the cancer deaths that have been prevented thanks to better knowledge of environmental risks like tobacco smoke.
So I think we have to have patience here. Not all problems are easy to solve and it can take researchers decades to find a game-changing treatment. It's impossible to predict when a major advance will occur, so you just have to keep trying.
So I think we have to have patience here. Not all problems are easy to solve and it can take researchers decades to find a game-changing treatment. It's impossible to predict when a major advance will occur, so you just have to keep trying.
7
For now I'm fine with the option of amputating worrisome, useless body parts. I had my own preventive mastectomy 20 years ago, due to family history, and I had to fight like a tiger to get it. Several years later I realized my ovaries were equally at risk, so they went too, along with my teensy weensy retired uterus. And my appendix too, for good measure, while we were in the neighborhood. I have never felt better! I am the healthiest person I know, in my age cohort. Even if it's an illusion, being worry free is a huge boost to health. Luckily I also accurately read the tea leaves on the downward spiral of our medical industrial complex, and did all this back when it was still affordable.
1
$250 is still more than pocket change when it comes to medical costs. And if your insurance company doesn't accept the results as genuine you will wind up paying for more testing and doctors' appointments. In America, no matter how things are presented when it comes to medical care the bottom line is if the patient can afford the cost of the co-pays, the deductibles, and the premiums. The other part of the bottom line is if the health insurance company allows the patient to go outside its approved providers if necessary and covers the cost.
I do wish the NY Times would stop trumpeting every small advance in medical science and care as a victory for patients because they aren't. If we cannot afford the care what's the point of the test? If we lose our jobs, cannot pay the premiums, aren't old enough or poor enough to qualify for Medicare or Medicaid, health care is luxury. In America what we call health care is really wealth care. We get the care we can afford, not the care we need. And no amount of fixing of the ACA, unless it gives us a system where we are not dependent upon our jobs to receive health care coverage, will help.
I do wish the NY Times would stop trumpeting every small advance in medical science and care as a victory for patients because they aren't. If we cannot afford the care what's the point of the test? If we lose our jobs, cannot pay the premiums, aren't old enough or poor enough to qualify for Medicare or Medicaid, health care is luxury. In America what we call health care is really wealth care. We get the care we can afford, not the care we need. And no amount of fixing of the ACA, unless it gives us a system where we are not dependent upon our jobs to receive health care coverage, will help.
64
If you are as destitute as you claim, hen4ry, then you would easily qualify either for expanded Medicaid OR for a very generous subsidy on the exchange.
The problem isn't poor people -- or the elderly -- or children -- or military members. We have excellent programs for health care for these groups. And a very substantial number of people STILL get very good health coverage from their employers. The problem is the ACA, which failed to address the core of the health care issue -- it is NOT universal and therefore, it leaves out tens of millions of people who are either too "rich" (ha!) for Medicaid (even expanded Medicaid) and too poor for a lousy Bronze policy with a $6300 deductible. It's still around 35-40 million folks (and how bizarre is it that we don't have hard numbers, 15 months into Obamacare?) which is the size of a pretty decent-size nation.
The problem isn't poor people -- or the elderly -- or children -- or military members. We have excellent programs for health care for these groups. And a very substantial number of people STILL get very good health coverage from their employers. The problem is the ACA, which failed to address the core of the health care issue -- it is NOT universal and therefore, it leaves out tens of millions of people who are either too "rich" (ha!) for Medicaid (even expanded Medicaid) and too poor for a lousy Bronze policy with a $6300 deductible. It's still around 35-40 million folks (and how bizarre is it that we don't have hard numbers, 15 months into Obamacare?) which is the size of a pretty decent-size nation.
2
As a single able bodied adult I do not qualify for anything Concerned Citizen. That is how our country works. If you have more than $2000 in assets you do not qualify for anything, period. They may have updated the amount but it's still a very paltry sum of money. Furthermore, if you bothered to read the rest of what I wrote, you would understand that even the people who STILL get coverage through their employers are subjected to co-pays, out of network charges, deductibles, etc. What sounds great on paper isn't always so in life. Just like your harping on where I live which is NY STATE, not the city, doesn't mean I'd have a better lifestyle in place like Anywheresville.
4
Quality healthcare, even with subsidized premiums, is not available to everyone. It's a commodity like a luxury car or five bedroom houses. Ideally, the same level of care would be extended to all but our economic system is Capitalism. Pharma and insurance companies are by nature profit driven. We are unlikely to ever have a system where everyone has access to the same level of care. Online DIY medical tests without the follow through by a trained genetic counselor make me leary about these tests. What does one do with the info? It's similar to when people were getting AIDS tests in storefronts. There obviously needs to be some follow through. What comes next? What if someone tests positive and cannot afford the surgeries? What if insurance companies refuse to cover because they don't accept the test results?
2
I was pleased to get genetic testing for $99 from 23&me before the FDA shut them down. Had I received a positive result for the BRCA gene or any other gene with implications for disease, I certainly would have sought additional testing to confirm the result. 23&me tested for a wide variety of genes, not just those related to breast cancer. Now all they are allowed to do is tell me that I'm Irish. I knew that before I mailed in my vial of spit. Thanks FDA!
18
You should thank the FDA. 23andMe was way ahead of its science. What good does it do to make the report more specific if the information is wrong?
3
23andMe's testing wasn't "wrong." The problem was that Big Pharma and Big Med didn't want 23andMe to work directly with consumers and leave them out of the loop. Because thats lost profit. So they convinced the FDA that the public was too stupid to understand facts or statics on their own. What 23andMe offered for $100-$200 is offered by genetic counselors for SEVERAL THOUSAND DOLLARS. The 23andMe results were actually very easy for the average person to understand. Just like the rest of the industry, 23andMe was expanding the number of genes tested, and adding to the data all the time. They were NOT in trouble for being wrong. They were in trouble for being too affordable, too accessible and too easy to understand.
8
Amen to that! The perfect example of regulatory overreach. I *did* find a lethal recessive for Gaucher's Diseaase, a genetic disorder that is fairly common in Ahskenazi Jews. I wonder how many children will die a horrible death from Gaucher's Disease because the FDA no longer allows people to see their test results?
1
I hope they find a cure for breast cancer soon so that all the money invested in breast cancer research can be dedicated to cancers more common and more deadly.
7
Yes, like lung cancer, which my wife has (stage 4). It kills more people and is more difficult to treat. But, there's almost a stigma to lung cancer. If you have it, it's your own fault....for smoking. I've been amazed at the frequency with which people jump to that conclusion.
For the record, my wife never smoked, nor did anyone in her family. The oncologists can't explain it. They only comment that the incidence of lung cancer in non-smokers is rising.
For the record, my wife never smoked, nor did anyone in her family. The oncologists can't explain it. They only comment that the incidence of lung cancer in non-smokers is rising.
18
Breast cancer is very common and deadly. It causes about 14% of cancer deaths in women, more than any other cancer.
10
Michjas, I lost a close relative to glioblastoma and a longtime friend to pancreatic cancer, so I certainly share your desire for more funding to go to the study and treatment of deadly cancers. But as far as "more common" ones: one out of every eight women has or will have breast cancer. That makes it fairly common, don't you think?
I've just come from a session of radiation therapy for my own Stage 1 breast cancer. Thanks to advances in the early detection of and treatment for breast cancer, my prognosis is good. I would say that "the money invested in breast cancer research" is well spent.
I've just come from a session of radiation therapy for my own Stage 1 breast cancer. Thanks to advances in the early detection of and treatment for breast cancer, my prognosis is good. I would say that "the money invested in breast cancer research" is well spent.
10
Protecting their gargantuan margins, Big Pharma will make sure that that never gets to the mass market
13
Nothing about wellness and prevention!
Nothing about how all this will do is increase overall national expenses.
(320,000,000 Americans, 160,000,000 women. 10,000,000 women who might be possible users of this test. $250 per test equals $2,500,000,000/year).
Of course there will be some reductions in expenses which are difficult to estimate but let's say $1,000,000,000 so the net increase in expenses would be .....?
Now if America and a few other countries would spend that $2.5 billion/year on research to prevent breast cancer, it might make sense.
Also there are so-called new therapies and women are supposedly living longer with breast cancer. Putting aside that as recently reported in the NYT, the paper of record, use of such statistics as survival rates are, well, to be blunt, not really very good. Incidence rates are better and primary prevention could bring them down very quickly. Also hormone replacement therapy has been associated with increased rates of breast cancer. And there are other medical care received products and services also associated with breast cancer.
Lastly, the therapy is still in too many cases as bad if not worse than the cancer. where is the research for better treatments other than cut, radiate and chemo drugs?
At least this article did not end with the message of (often false) hope and promises of cures.
Prevention and cure without killing the patient should be the goal behind expenditures.
Nothing about how all this will do is increase overall national expenses.
(320,000,000 Americans, 160,000,000 women. 10,000,000 women who might be possible users of this test. $250 per test equals $2,500,000,000/year).
Of course there will be some reductions in expenses which are difficult to estimate but let's say $1,000,000,000 so the net increase in expenses would be .....?
Now if America and a few other countries would spend that $2.5 billion/year on research to prevent breast cancer, it might make sense.
Also there are so-called new therapies and women are supposedly living longer with breast cancer. Putting aside that as recently reported in the NYT, the paper of record, use of such statistics as survival rates are, well, to be blunt, not really very good. Incidence rates are better and primary prevention could bring them down very quickly. Also hormone replacement therapy has been associated with increased rates of breast cancer. And there are other medical care received products and services also associated with breast cancer.
Lastly, the therapy is still in too many cases as bad if not worse than the cancer. where is the research for better treatments other than cut, radiate and chemo drugs?
At least this article did not end with the message of (often false) hope and promises of cures.
Prevention and cure without killing the patient should be the goal behind expenditures.
8
Breast cancer prevention is the holy grail, one with a lifetime's worth of variables, but in the meantime knowledge of one's particular susceptibility can be empowering. We risk overtreatment, yes. But ignorance also has its consequences.
As someone whose mother has battled breast cancer for over 30 years, I don't know whether I will test for genes when I can affordably because I don't know that it would change what I do to monitor, such as clinical exams and mammograms.
Yet the availability of the tests gives me comfort. That is worth something.
As someone whose mother has battled breast cancer for over 30 years, I don't know whether I will test for genes when I can affordably because I don't know that it would change what I do to monitor, such as clinical exams and mammograms.
Yet the availability of the tests gives me comfort. That is worth something.
1
'Nothing about how all this will do is increase overall national expenses.
(320,000,000 Americans, 160,000,000 women. 10,000,000 women who might be possible users of this test. $250 per test equals $2,500,000,000/year)'
Don't forget to add in the doctor's fee - $150+ / per patient. And the genetic counselor gets paid too - $300+ / per patient. And the lost productivity caused by having to make all these office visits.
(320,000,000 Americans, 160,000,000 women. 10,000,000 women who might be possible users of this test. $250 per test equals $2,500,000,000/year)'
Don't forget to add in the doctor's fee - $150+ / per patient. And the genetic counselor gets paid too - $300+ / per patient. And the lost productivity caused by having to make all these office visits.
3
J Schaffert
Your mother has not battled breast cancer. It is not about war and winning. It is about living with a cellular dysfunction that is horrible and deadly. The word "cancer" still evokes fear and dread as you know.
And I hope in those thirty years she has had more great days than good and more good days than bad.
But the issue is not comfort by paying a shaman, a doctor or a priest or worse a charlatan who offers hope, promise and the day of victory.
It is about avoiding the necessity to have to yearn for such comfort in those ways instead of enjoying and living a vibrant life.
My main point is that primary prevention is better than the best, safest and least expensive treatment. To live in a safe and healthy world honoring wellness principles and having a positive impact on those around you and they on you.
Present research is driven by profits or at least it is the of investors' dream to make money. Cure is avoided by coming up new tests and drugs which often fail or cause more pain, illness, disease and finally death.
There has to be a better way. Wellness and primary prevention are a better path.
But if it is comfort sought, there are religious leaders and shysters parading in religious garb and rhetoric who offer senseless, delusional, ineffective and insane solutions. There is no difference between a scientific approach and a religious one when all they seek is money and profits.
Wellness is one path to make it through life with less battles.
Your mother has not battled breast cancer. It is not about war and winning. It is about living with a cellular dysfunction that is horrible and deadly. The word "cancer" still evokes fear and dread as you know.
And I hope in those thirty years she has had more great days than good and more good days than bad.
But the issue is not comfort by paying a shaman, a doctor or a priest or worse a charlatan who offers hope, promise and the day of victory.
It is about avoiding the necessity to have to yearn for such comfort in those ways instead of enjoying and living a vibrant life.
My main point is that primary prevention is better than the best, safest and least expensive treatment. To live in a safe and healthy world honoring wellness principles and having a positive impact on those around you and they on you.
Present research is driven by profits or at least it is the of investors' dream to make money. Cure is avoided by coming up new tests and drugs which often fail or cause more pain, illness, disease and finally death.
There has to be a better way. Wellness and primary prevention are a better path.
But if it is comfort sought, there are religious leaders and shysters parading in religious garb and rhetoric who offer senseless, delusional, ineffective and insane solutions. There is no difference between a scientific approach and a religious one when all they seek is money and profits.
Wellness is one path to make it through life with less battles.
1
Long overdue easy access to this testing will have a remarkable impact on effective screening and prevention techniques in people with suspected BRCA gene positivity. The objective available risk models (GAIL calculator)and (incomplete) family history "check boxes" have left many unaffected elevated risk people out in the cold. As a gynecologic physician in primary care of women, I know this will save lives for some and be a huge relief to many others.
7
Having just paid $4500 for the Myriad battery of testing, $250 would have been a much more reasonable cost. Getting a cancer diagnosis then feeling gouged at every turn is demoralizing to patients.
52
Health care costs should not be the burden of the patient. We need to socialize medical care like the civilized world has done.
39
I agree with Dr. Offit, that we have come a long way but have a ways to go to improve the testing process and decrease the rate of finding genetic variation of unknown significance. Everyone has variants in their genetic material and more effort into classification to determine which variants are associated with an increased risk for breast and ovarian cancer and which do not will help individuals learn more about their health and their management options. Getting the variant information right is a very important effort but it is completely wrong for Myriad to keep its data in a proprietary manner. Although it is wonderful to see Labcorp and Quest partnering in this venture, and a good example of collaboration for public good, we should be concerned about paying for access to scientific data.
Another way people can help move this forward: Patients who have undergone genetic testing can provide information about their specific variant in BRCA1 and BRCA2. if they have had panel testing through the PROMPT registry (www.prompts.org) or of they have had only BRCA1 and BRCA2 testing through Free the Data.http://www.free-the-data.org/
Another way people can help move this forward: Patients who have undergone genetic testing can provide information about their specific variant in BRCA1 and BRCA2. if they have had panel testing through the PROMPT registry (www.prompts.org) or of they have had only BRCA1 and BRCA2 testing through Free the Data.http://www.free-the-data.org/
19
Learn more at www.BRCAcommunity.com