Clues to Your Health Are Hidden at 6.6 Million Spots in Your DNA

I don't want to know what's in the crystal ball. I don't want to play God. I don't want to know. How could one possibly live life if one knows with certainty of demise? On a more pragmatic level, what would happen if results should fall into the hands of insurance companies? Or, employers? DNA is that one thing, that absolute integral part of us, that we cannot possibly escape from. For what it's worth, it's a very bad idea.

Reading the other comments so far, I think it's important to note that these research results are not in any way specific to home DNA testing companies. This is something that your doctor could one day tell you if you're curious about your predisposition to, say, heart disease or cancer, if you're willing to have your doctor genotype or sequence your DNA sequenced or genotyped (it doesn't need to be done by one of those companies). It also opens the door to future research on similarly complex diseases, demonstrating to other researchers that better predictive power can be found in the tails of the distribution. It also points towards the possibility of finding the genetic origins of these complex traits! The tricky part is getting enough data to build a good model. We need millions of people (and more) to provide a lot of data in order for this to be possible. The UK Biobank, which provided the reference data used in this study, is a wonderful resource of genetic and patient data for researchers to learn about complex diseases. It is one of a kind in the world. Another place where huge amounts of genetic data currently exist is indeed in the hands of genetic testing companies like 23&Me and Ancestry, and at least one of those companies are trying to use their data to cure diseases as well (for profit, naturally). If you don't like that they are in a position to control future medical research, maybe we should aim for a centralized healthcare system like the UK.

Who funded this research? What are their motives? We live in corporate times. We should expect every shred of personal data to be exploited by someone for profit. Until we take profit out of medicine even imperfect predictions about our disease predispositions will be used to extract money from us.

""The researchers are now building a website that will allow anyone to upload genetic data from a company like 23andMe or Ancestry.com. Users will receive risk scores for heart disease, breast cancer, Type 2 diabetes, chronic inflammatory bowel disease and atrial fibrillation. People will not be charged for their scores. Still, there are concerns about how the genetic test will be used. “It carries great hope, but also comes with a lot of questions,” said Dr. David J. Maron, director of preventive cardiology at Stanford University. “I’m not sure we can stop it,” said Dr. John Mandrola, a cardiac electrophysiologist at Baptist Health in Louisville, Ky."" Will those scores be sold for profit? Whatever the consequences of knowing or not knowing for an individual, what are the chances and consequences of this very personal information being used for unknown purposes without the consent of the individual? We live in an era where people freely give away their privacy (perhaps because they do not understand the consequences). Where are the protections against discrimination? As we are seeing in the headlines, the very recent protection for "pre-existing conditions" is tenuous at best. This is but one example of the urgent need to better define privacy in the digital age, conduct the required public debate, and enact legislation to provide protections for the most vulnerable in society. The time is now for a digital "Magna Carta".

Hi Gina A bunch of genetics researchers are sitting here trying to figure out which article you're talking about. It must be this one? https://www.nature.com/articles/s41588-018-0183-z Please link the article in the future. Reading the NYTimes article, I'm kind of confused about why this is news. We don't do a lot of clinical work, but Bjarni's LDPred is well known in our research community and I had always assumed that polygenic risk scores were very common. Reading the Nature Genetics article, it looks like the primary innovation is to focus on the subgroups of people with the highest and lowest polygenic scores and demonstrate that their disease risk is pretty accurate within these extreme subgroups (for several diseases). Also, you wrote in the article, "So the investigators also tested and validated their method in populations of East Asians, South Asians, African Americans and Hispanics." I don't see that in the Nature Genetics article at all -- in fact it says the opposite, "The polygenic risk scores described here were derived and tested in individuals of primarily European ancestry... the specific GPS here will not have optimal predictive power for other ethnic groups." The subsequent sentence also needs some careful thought: "It will be important for the biomedical community to ensure that all ethnic groups have access to genetic risk prediction of comparable quality, which will require undertaking or expanding GWAS in non-European ethnic groups." David

Allowing these companies to store your individual genome is not a good idea for more reasons than are worth naming.

An excellent and informative article. I doubt however that it will help most people understand probabilities. Even if geneticists were able to identify one-hundred percent of markers in genes associated with a process disease, they would still have only a probability assessment. What I find of even greater interest in this article is mention of high LDL cholesterol and statin drugs. Since there are folks with genes making the metabolism of fats inefficient and there are obviously other genes involved in processing fats, what does adding statin do to the entire metabolic function of the body in general and processing fats in particular? In other words, medicine–western medicine?–has a tendency to focus on symptoms rather than malfunctioning processes. The incredible tools of genetics are merely reinforcing this myopia.

“Patients may not appreciate the consequences of learning they have a high likelihood of having a heart attack or breast cancer or one of the other diseases the test assesses.” Having this knowledge is one thing, being able to effectively alter or prevent its outcome is something altogether different. My husband recently discovered that he has an aortic aneurysm. He is 78 years old. Either option of surgery now (with those potential high risks and dangers) or waiting until his aneurysm reaches the size where surgery must be performed is scary and daunting. He wishes he never was made aware of this information because he walks around these days, wondering when the “other shoe will drop”. I told him to snap out of it and take each day as it comes, enjoying each day as if it was his last. No one is guaranteed tomorrow, much less the end of today. Possessing certain knowledge isn’t always the most prudent course to take. Sometimes the worry, panic, fear and obsessive behavior of always being afraid of knowing you have a potential life threatening issue or have inherited a genetic predisposition can actually work against a person’s overall mental and general health and mindset. Most folks I know prefer to have hope and assume they have tomorrow, the next day, and the next week rather than become paralyzed with information they can’t do anything about except worry and become upset and/or depressed. Life is hard enough as it is - why complicate it with more bad news?

Ms. Kolata, please read the science, the actual science (not the American Heart Association's guidelines) on cholesterol. Calling LDL cholesterol "bad" is really poor science journalism. Check out the outcomes for people with the lowest LDL. They are the ones who die soonest and have the most heart attacks. And statins - have you looked at the data? A good place to start is Nina Teicholz's book, A Big Fat Surprise. She looked at the science and talked to the scientists. The doctors you quote in your story, of course, need this information as well. But a journalist's job is to question and go deeper. Please do.

Genetic predisposition - the new preexisting condition. I can't help but wonder who does this information serve? Does it really help the individual? How does the advice to the individual change if you have one of these risk factors? Is there anything to be done more than the usual maintain a healthy weight, diet, and exercise? Will this information instead cause anxiety or depression resulting in a lower quality of life or shorter life spans? Call me a conspiracy theorist but seems to me that the insurance industry is the best served with this information, along with the pharmaceutical industry and their antidepressants, the diet and exercise industries that hardly need any additional help... This will be turned into just another way to blame the individual for not doing enough to counter their genetic inheritance. Don't believe that someone could be blamed for poor genetics? What about the so called 'meritocracy'? To win at this game one first needs to be born with some brains.

I am a primary care physician. I calculate and discuss cardiovascular risk (and risk for other diseases like diabetes) with patients every day using existing models. I try to explain it in ways that are simple to grasp. Guess what? Most people don't make any changes in lifestyle and most are not very compliant with medication prescribed to prevent diseases they don't have yet. Maybe it's my patient population, or maybe I'm am not very convincing in my explanations. But I really think it is an issue for all physicians working in prevention. People in general tend to be preoccupied with their present and figure they will worry about the future when it gets here. Sure, there are a few people who take this information to heart, but they seem to be a small minority. The benefit of the existing risk models, I think, is in raising physician awareness so that the patients are diagnosed sooner and have more aggressive treatment when the diseases occur. I would just like to see a study that shows if this type of detailed testing improves longevity, morbidity, or quality of life for patients. Perhaps this information is best communicated to patients in a simple non-burdensome way, but communicated with more emphasis to physicians.