Thursday, November 28, 2013

23andMe Revealed A Condition It Took My Doctors Six Years To Diagnose

The FDA claims it halted the sale of 23andMe‘s flagship Personal Genome Service (PGS) kit due to concerns over its validity and the possibility that clients may suffer from mental anguish when faced with the possibility that their genetic code puts them at risk of serious diseases. In other words, the FDA is worried about patients flooding doctors’ offices holding their genetics reports demanding to be tested for various ailments.

From a medical standpoint, it could be logistical nightmare for doctors. From a patient’s perspective, however, it is absolutely important to be armed with the information. Yes, there is no guarantee that if a genetic marker is identified, it will actually turn into an illness. It may not even provide a complete view of the risk. And, absolutely, environmental issues can also result in mutations that will turn into diseases that may not be reflected in an individual’s genetic code. But if there is even a chance that a person has a heightened risk for a certain ailment, they have a right to explore that.

I sent away for my $99 genetic kit this past summer. For me, it wasn’t a medical quest but rather a quest to seek out my ancestral heritage. In addition to identifying genetic markers, a PGS kit can also provide an ancestry composition, indicating the percentage of your DNA that comes from populations globally. All I knew of my history was that my Muslim parents migrated from India to Pakistan during Partition, leaving behind family heirlooms that could have shed light on their ancestors’ journey into the subcontinent.

When my results came back, my ancestry composition turned out to be fascinating. But my medical report was even more compelling.

My health traits report indicated an elevated risk for autoimmune disorders, including Hashimoto’s disease. That hit home for me. After a 6-year struggle with multiple doctors to figure out what was wrong with me, I received my official diagnosis of Hashimoto’s in August, just weeks before I received my 23andMe results back. Perhaps if I had had a report indicating the possibility of such an illness in my genetic code, I could have been spared the headache of dealing for years with skeptical doctors who thought my ailments were all in my head.

While there are always some prone to histrionics, it’s probably safe to assume that 23andMe clients generally know that the health report is just an indication, not a diagnosis. The company even states that its report is purely for informational purposes and should not be used as a replacement for proper medical care and assessment. And even if patients are convinced that they need treatment for a specific illness based on the report, a doctor would still need to prescribe and approve of any procedures. I would be hard-pressed to consider the PGS kit as a true medical device, as the FDA contends.

For me, the 23andMe report has simply provided a road map for areas that I may want to get checked out in the future as I manage my health. And it’s given me an interesting dinner party conversation regarding my ancestral heritage: part South Asian, part East Asian, part Celtic Briton and part Ashkenazi Jew. Not bad for $99.

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