Comments to the FDA Meeting on Consumer Access to Genetic Tests

The following comments were submitted to the Food and Drug Administration by Stephen Cobb, in preparation for the planned meeting of the Molecular and Clinical Genetics Panel of the Medical Devices Advisory Committee, said meeting to be held March 8-9, 2011, to discuss issues surrounding direct-to-consumer access to genetic testing.

FDA Comment Tracking Number: 80bfb28b

These comments represent my opinion as a consumer and as someone whose life has been permanently and negatively impacted by a genetic condition.

I think it would be a serious setback for public health in America if you decide to stop responsible companies such as 23andMe providing their current genetic testing services direct to consumers. I have used the services of 23andMe and have been impressed by the level of care and responsibility the company exercises in presenting health-related test results.

I see no benefit in requiring a doctor's prescription to get such tests or in placing a doctor between me and the facts about my genetic makeup. Indeed, I see a lot of potential for harm. I live with such harm every day.

For several years now, my wife has been in almost constant pain due to undiagnosed hereditary hemochromatosis. The genetics of this condition being what they are, our daughter is at risk from hemochromatosis. We want her to get tested. But if such a test required permission from her doctor and her doctor felt the test was unnecessary, then we would have a problem. Not knowing her carrier status could result in harm to her and any children she might have, not to mention the mental stress of not knowing.

This is a very real scenario. I'm sure you don't need me to tell you that, despite hereditary hemochromatosis being the most common genetic killer in America today, the current level of knowledge about this condition within the medical community remains woefully inadequate (as revealed in surveys such as that done by the CDC).

So it is quite possible that a genetic test we regard as critical for a family member may not strike a doctor the same way. The stories I read on the Hemochromatosis Facebook page lead me to think this is how things are. Requiring a doctor's approval to get tested for a genetic defect like hemochromatosis will likely add time and money to the process while taking away freedom of choice and open access to information about something of vital interest to consumers, their family members and loved ones.

The argument that a doctor is required to present the results of medical testing might sound good in theory but too often falls apart in practice. You currently need a lot more than a prescription to get the kind of test that revealed my thoracic aortic aneurysm seven years ago. How did my cardiologist inform me of that aneurysm? With a photocopied form letter that arrived at my house on a Friday after their offices closed for the weekend. How many words of advice and counseling about the implications of that test result were included: zero. So I’m not at all impressed with the argument that doctors should be in charge of the flow of information about my genes.

Finally, I think it is a mistake to frame the discussion of direct-to-consumer genetic testing as an issue of medical procedures or medical tests. The issue is one of access to personal data, facts about myself, points of information that have been there all my life and belong to me in a profoundly and uniquely personal way. That the technology exists to document my genetic makeup does not make the act of documentation a medical test. If I get my genome mapped the information is mine and I should be able to access that information and decide with whom it is shared.

As a consumer I do not see genetic data as different from any other personal anatomical data that pertains to my health and welfare. For example, if I look at my face in the mirror in the morning and see it is covered with spots, that is actionable anatomical data. Our society assumes I am capable of assessing the relative probability that these spots are acne, measles, an allergic reaction, or something unknown. Our society says I am free to access this data (the shape, size, color, number, and distribution of the spots). I am free to put this data together with other medical data that I own (such as known allergies and the medical histories of myself and family members). And I am free to act on this data, either by self-medicating based on my own assessment of the spots, or by seeking further advice, perhaps from a family member, or a pharmacist, a nurse, or even a doctor.

In my opinion my genes are no different from the rest of my anatomy. In a very real sense they are my anatomy. I should be trusted with access to them. If I am watching NBC Nightly News and Dr. Nancy Snyderman is telling Brian Williams and the rest of America that a study of PSA levels in about 9,000 men of European descent from Iceland who were free of prostate cancer showed that subjects with the CC genotype at rs401681 had 7% higher PSA levels on average, and researchers suggest that individual PSA level cutoffs for prostate biopsies could be based on whether a man carries specific genetic variants such as this one, then I should be free to check out my own rs401681.

In fact, I did just check it at 23andMe, at no incremental cost to me. Turns out I have the CC genotype at rs401681. There seems to be no good argument for placing obstacles between me and that information.