AMA to Control Your DNA? Asks FDA to ban direct-to-consumer genetic tests

It's no secret: I dig DNA. I'm into my genes. Deep ancestry excites me. Genetic defects perplex me. And I've spent a fair amount of time looking after someone who is suffering the crippling effects of Celtic Curse, a potentially deadly and surprisingly common genetic condition that went undiagnosed for too long (owing to a combination of medical ignorance and avaricious genetic patenting).

Lately I've been blogging and tweeting about 23andMe, a company to whom you can send your own DNA for analysis. I bought myself a ticket to 23andMe for Christmas and I've been delighted with the service they provide. I'm buying 23andMe for my wife for her birthday in April, but I'm buying it right now, before it becomes illegal.

Get Your Genome Mapped While You Still Can?

That's right, some very powerful people don't want you to have this kind of direct-to-consumer access to your DNA and they're looking to shut it down. Here's how one science writer put it:
the medical establishment is outraged by the idea of people having access to their own genetic information without the supervision of its members, and they want the FDA to stop it.

That's how Dr. Daniel MacArthur characterized the recent American Medical Association statement on the subject of direct-to-consumer genetic tests. Just to be clear, MacArthur, who blogs for Wired Science, has a PhD in Human Genetics. He's not exactly a novice in this field. And he's not not making this up. (Here's the Wired article.)

[Update: You can submit your own comments on this issue online, direct to the FDA, at this site up until midnight February 28.]

The AMA is the largest lobbying group for medical doctors in America and it is openly urging the Food and Drug Administration to recommend that "genetic testing, except under the most limited circumstances, should be carried out under the personal supervision of a qualified health care professional."

In other words, if your doctor doesn't think you need this gene or that gene tested, it does not get tested. And if your genes get tested, the results go to the doctor, not you. Whether you get the results is up to them, not you. After all, you're just a consumer. You might take things the wrong way. According to the AMA: "the involvement of a physician is essential in achieving benefit from test results."

Gatekeeping Has Already Begun

If the FDA decides you have to get a prescription to get your genes mapped, it would not be without precedent. New York State has already tried it, seeking to require residents to obtain their doctor's permission to get their DNA analyzed. I happen to know this because I live in New York and it was just before Christmas when 23andMe sent a little bottle to my village in upstate New York for me to spit into. I would then send them this sample of my saliva so they could perform a DNA analysis.

I was all set to spit when I noticed, on the 23andMe website, something about not spitting in New York. Seriously! I was warned that I could not use the kit to collect a DNA sample in New York. Fortunately, I was just a few days away from a trip to Pennsylvania. So I waited, took the DNA collection kit with me, spat into it in Pennsylvania, then mailed it to 23andMe from Philadelphia. At the time I thought it was bizarre, but I was not too worried. Then I read about the FDA hearings and I started to get very worried about doctors getting between me and my genes.

Why worry? For a start, I can give you a very real example of how this type of medical interference in access to genetic data could lead to needless pain and suffering. Because my wife has hereditary hemochromatosis our daughter is at risk for hemochromatosis, and so are any grandchildren, and so on. We want her to get tested. But what if she requires permission from her doctor and her doctor says no?

The current level of knowledge about hemochromatosis within the medical community as a whole is woefully inadequate. (This is not just a personal opinion. Studies have shown that someone with hemochromatosis has to see, on average, more than 10 doctors before they find one that makes the right diagnosis. And this is NOT some rare condition. Genetic hemochromatosis is the most common genetic killer in America!)

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 not implausible. After living with this knowledge for several years it is quite clear that my wife did not hit a run of bad luck. Her case is typical. And while we remain deeply grateful to the doctor who finally figured out why she was so darn sick, our feelings towards all the others who failed her do not incline us to think there is any benefit in appointing medical doctors as the gatekeepers of human DNA. I have already described how my cardiologist sent me a form letter to let me know I had a thoracic aortic aneurysm, which I didn't actually have. Sensitive? Professional? I think not.

Free to Be Me

If I look at my face in the mirror and see it is covered with spots, that is actionable anatomical data. As an adult I am considered by my peers to be 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 also 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.

To me, my genes are no different from my anatomy. In a very real sense they are my anatomy. I should be trusted with access to them.

UPDATE March 27: We have started a petition to express our position to the FDA. Please sign if you can. Thanks!

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