No Chicken Littles in DTC DNA

Time to trust the people

According to 23andMe, The Legal Genealogist has roughly 1.5 times as great a chance of developing coronary heart disease as the average American. And 1.43 times the chance of developing type 2 diabetes. And 1.2 times the chance of developing chronic kidney disease and esophageal squamous cell carcinoma.

And — this may surprise the medical establishment types out there — I haven’t done the Chicken Little “the sky is falling” bit on any one of these. I haven’t rushed out to get a single test for any of these conditions. I haven’t dramatically altered my routine or my lifestyle. I haven’t started giving away my belongings or picking out tombstones. I haven’t even worried about these results.

By the same token, 23andMe tells me, I have a somewhat lower chance than the average American to develop Alzheimer’s, restless legs syndrome, rheumatoid arthritis, age-related macular degeneration, melanoma and Parkinson’s Disease.

And — this may also surprise the medical establishment types out there — I haven’t ignored any symptoms that might suggest any of these conditions. I haven’t stopped getting regular check-ups, my eye doctor still checks for AMD, and I haven’t all of a sudden decided that I can ignore my very-well-established personal and family history of skin cancer just because a test says I might not develop full-blown melanoma.

In other words, despite the enormous and repeatedly-expressed fears of the medical establishment types, the fact that I have access to information about potential medical risks that may lurk in my genes hasn’t led me to do a single solitary stupid thing as a result.

And guess what? There’s no solid evidence that direct-to-consumer (DTC) DNA testing sends anybody else off the deep end into irrational responses either — and a growing body of evidence that people who get unexpected news through such testing — even scary, negative news — simply don’t run off and do stupid things as a result.

The most recent study was published in an online open source peer-reviewed academic journal called PeerJ.1 Now I’m not about to ignore the facts that (a) PeerJ is a pay-for-play journal (authors have to pay to have the right to have their articles reviewed and then published there)2 and (b) the scientists who authored the study largely work for 23andMe — or at least were paid by 23andMe to do this particular research.3 And there’s no getting around the fact that 23andMe has a vested interest in convincing people there shouldn’t be restrictions on DTC DNA testing even for medical conditions.

But there’s nothing about what this newest study found that’s really surprising: people who discovered through DTC DNA testing that they were at higher risk because they had specific genetic traits associated with breast, ovarian and prostate cancer in the Ashkenazi Jewish population acted in (gasp) basically responsible ways. They got medical advice. They notified family members who might also be at risk. And people whose risk was indicated as low or average by DTC DNA testing still got recommended screenings.4

Earlier studies by less biased researchers (at least those less likely to be biased towards DTC DNA testing) weren’t all that different. Geneticist Ricki Lewis in her DNA Science Blog reported in 2012 that David Kaufman, Ph.D., Director of Research and Statistics at the Genetics and Public Policy Center at Johns Hopkins University, surveyed more than 1,000 customers of 23andMe, Navigenics, and deCODE in 2010, and found the the most common reactions of those tested to news of a possible risk of a genetic disease were to (gasp) act responsibly: “34% adopted a more healthful diet, 16% changed a drug or supplement, and 14% exercise more…, 43% sought additional information on at least one tested condition, 28% discussed findings with a health care professional, and 9% followed up with additional lab tests.”5

In a study published in 2012 in Public Health Genomics, for another example, members of the general public tended to slightly misunderstand some DTC results, but their overall reactions to the tests were generally not significantly different from what genetic counsellors would have told them was an appropriate reaction. And where they were different, the general public would tend to be a little more concerned and perhaps likely to get things checked out.6

And this is bad how?

Let’s face it: people have a right to take DNA tests if they want to, whether for health conditions or for genetic genealogy. They have a right to get the results. They shouldn’t have to go through a medical gatekeeper to do it. States like Maryland that require a medical gatekeeper7 are just plain boneheaded.

It’s time to trust the people.


 
SOURCES

  1. Uta Francke et al., “Dealing with the unexpected: consumer responses to direct-access BRCA mutation testing,” PeerJ 1:e8 (2013) (https://peerj.com/ : accessed 16 Feb 2013).
  2. See “Two Publications: PeerJ,” PeerJ.com (https://peerj.com/ : accessed 16 Feb 2013).
  3. See, e.g., “Leadership Team,” 23andMe (https://www.23andme.com : accessed 16 Feb 2013), entries for Uta Francke, MD, and Joanna L. Mountain, PhD, two of the authors of the study.
  4. Francke et al., “Dealing with the unexpected: consumer responses to direct-access BRCA mutation testing.”
  5. Ricki Lewis, “Direct-to-Consumer Genetic Testing: A New View,” DNA Science Blog, posted 8 Nov 2012 (http://blogs.plos.org/dnascience/ : accessed 16 Feb 2013).
  6. J.W. Leighton, et al., “The General Public’s Understanding and Perception of Direct-to-Consumer Genetic Test Results,” Public Health Genomics 2012;15:11–21, online at Karger.com (http://www.karger.com/ : accessed 16 Feb 2013).
  7. See Judy G. Russell, “NY and MD limits on 23andMe,” The Legal Genealogist, posted 23 Dec 2012 (http://www.legalgenealogist.com/blog : accessed 16 Feb 2013).
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20 Responses to No Chicken Littles in DTC DNA

  1. Well said, Judy! If someone was the type to fly off the handle and panic, they would do it whether or not they took one of these DNA tests. If anything it could be a tool for doctors if their patients shared the information with them. Sharing can take place without panicking so are these doctors against it because they lack the skills to deal with the flow of information? Because it’s something new and they don’t want to have to expand with it? It has always seemed a bit ridiculous to me, but it’s so had to stop stupid.

    Awesome post!

  2. Jeff says:

    It seems to me that 23andMe is trying to scare someone.

  3. JoF says:

    23andMe has me confidently at greater risk for 7 diseases/conditions. So far, at 69, nobody has seen any symptoms of any of them. Also, none of my relatives, to my knowledge, has had any of them. The diseases/conditions that I have seen among relatives aren’t in the list of 23andMe’s known risks for me. Of course, having a genetic predisposition doesn’t guarantee one will get the disease. Likewise, not having an increased predisposition doesn’t mean one will not develop the disease. Life is far more complicated than that.

  4. Ruy Cardoso says:

    When I learned I had one copy of a mutation relating to hemochromatosis, I immediately stopped chewing on wrought iron fences.

  5. Bill says:

    I must say I can’t find a positive spin on finding out that with two copies of APOE4, I’m at a greatly increased risk of developing Alzheimer’s between the ages of 50 and 79. This puts me at higher risk than 98.4% of the population. Sobering news, to say the least, and not something I was prepared to find out. I had no idea there was a possibility of receiving such an alarming result from a test such as this. I am 49.

    I am not the Chicken Little type, but still I do not enjoy having the specter of this debilitating disease hanging over me. As an adoptee, I have no idea if this runs in my biological family. Since receiving this result last summer, not a day has gone by when this doesn’t haunt me. I don’t think 23andMe should include this kind of test in their product. I wish I could turn back the clock and return to the days when I never had this worry. Their advice: “seek genetic counseling.” Gee thanks.

    • Judy G. Russell says:

      I can certainly understand your feelings, Bill. But the decision to choose this test and to look at the health-related results was yours and yours alone. The fact that you found out something you’d rather not know isn’t a good reason to stop me from finding out something I do want to know. And, frankly, in your shoes, I’d want to know that I had that risk. It’s really easy to say “I can do that later, I can wait until I retire.” But if perhaps I wouldn’t be able to do it later, couldn’t wait until I retired, I think I’d want to know so I’d have the chance to move priority items way up the bucket list into the here and now.

      • JoF says:

        Also, there are a few things Bill can do to decrease his risk. The evidence isn’t all in yet but still, I’d stay away from saturated fats (solid at room temperature). Eat lots of veggies. Pay attention to vitamin and mineral needs and intake. Think. I mean think! Use your brain to think deeply about philosophy, the meaning of life, anything deep and complicated. Study. Learn something new. Learn many new things. Keep making new synapses. Be glad you are here now when there are many opportunities for learning and the scientific/medical folks are doing lots of Alz research. Get in touch with your local Alz Association chapter and get on their mailing list to learn about new research. Maybe even sign on to a project following at risk people. Be proactive. Like I said above, having a genetic predisposition does not mean automatically that one will get a certain disease. There are environmental and lifestyle factors needed as well. You can control some of these.

        • Judy G. Russell says:

          Those steps all make sense even if you don’t have any genetic predisposition!

        • Bill says:

          Believe me, JoF, I have immersed myself in the literature and “popular theories” but don’t have time to point out where every one of your suggestions has its critics. Even the suggestion to exercise the brain has critics, after it was found that mice who simulated APOE4 experienced faster decline in stimulating environments, while those in more peaceful and relaxing environments fared much better. It seems that what may help prevent AD in people with APOE3 may do the reverse in those with APOE4. So please be careful about the advice you give.

      • Bill says:

        I doubt that most people who take a test like this truly comprehend the gravity of the possible outcomes. There are plenty of other avenues available for testing for this particular genetic health risk, so my suggestion that this should not be a part of DTC genetic testing in no way stops you from testing elsewhere and finding out your genetic risk for AD.

        • Judy G. Russell says:

          Unless someone stood behind you with a gun to your head, nobody chose for you to take that test — except you. And nobody chose for you to look at the health-related results — except you. The fact that you didn’t know what you were doing and didn’t expect the result that you got has nothing to do with anyone else — only you. I am deeply sorry that you’re facing this crisis in your own life. But your choices should not affect my rights.

  6. Shane says:

    Google Founder, Sergey Brin, has a mutation associated with greatly increased risk for Parkinson’s disease. This has led to Brin publically committing himself to Parkinson’s research and to personal behavior changes which may reduce his chances of getting sick. In my mind, both good results.

    Brin’s wife is Anne Wojcicki, a founder of 23andme. Brin’s making this result public was likely partially due to this relationship.

    • Judy G. Russell says:

      It has also led 23andMe into taking the crowd-sourced research information received from its subscribers’ results and patenting “a method for screening a human subject for susceptibility to Parkinson’s Disease” developed from those results. Something I regard as disquieting at best. See “A disquieting blend of genes and patents,” posted 15 July 2012.

  7. Dave says:

    I firmly believe that Maryland’s requirement for a medical gatekeeper is just a job-protection measure by the medical community. The first thing that comes to mind is the contention of the ambulance-chasing lawyer in Arthur Hailey’s “Airport” that because he is not an attorney, the airport general manager is no expert on contracts. What people in professional positions need to remember is that they may be licensed to perform an activity, but that doesn’t mean everyone else is totally ignorant! I can read the law as well as any attorney, but if I need detailed advice I’ll still converse with the expert. I’m not going to self-diagnose from a DNA test, but it might give me the incentive to learn more about whatever the test suggests. I’m also not convinced, yet — because I haven’t looked into the research — that all the possibilities suggested by the DNA test have enough data points to be meaningful.

    That’s all just a long-winded way of saying I fully agree with Judy!

    • Judy G. Russell says:

      I’m not sure the data points are there either, Dave, at least not for the vast majority of conditions reported.

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