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.
- 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). ↩
- See “Two Publications: PeerJ,” PeerJ.com (https://peerj.com/ : accessed 16 Feb 2013). ↩
- 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. ↩
- Francke et al., “Dealing with the unexpected: consumer responses to direct-access BRCA mutation testing.” ↩
- 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). ↩
- 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). ↩
- See Judy G. Russell, “NY and MD limits on 23andMe,” The Legal Genealogist, posted 23 Dec 2012 (https://www.legalgenealogist.com/blog : accessed 16 Feb 2013). ↩