I first heard about mail-in DNA test kits a few months ago from a colleague who’d just received his results from 23andMe, one of the most popular — and notorious — direct-to-customer DNA testing services.
Although 23andMe has been offering mail-in genetic testing since 2007, it wasn’t familiar to many until this past year, when the price tag, originally $999, went down to $99. Reportedly, over half a million people have sent in a swab of saliva to 23andMe for information on nearly 250 genetic traits and health conditions.
However, not long after my introduction to the service, 23andMe received a game-changing letter from the Food and Drug Administration (FDA) demanding that the company “immediately discontinue marketing” its personal genome service (PGS) because, in the FDA’s estimation, the 23andMe kit as marketed was akin to a “device” meant “for use in the diagnosis of diseases or other conditions.” Therefore, the FDA argued, it “requires premarket approval.”
23andMe still offers “a personal analysis of your DNA,” but the company has scaled back their services – at least for now. Before entering the site, visitors must tick a box acknowledging an understanding that 23andMe “only sells ancestry reports and raw genetic data at this time” and “will not provide health-related reports.”
But 23andMe is hardly tossing in the clipboard, and their statement closes with hope for disappointed customers: “23andMe may provide health-related results in the future, dependent upon FDA marketing authorization.”
Is the FDA being unnecessarily persnickety, or do such
services need regulation?
Some argue that even if the results are accurate, they can be dangerous to customers who may become unnecessarily anxious about a suggested genetic predisposition or, on the flip side, reckless with their health due to favorable conclusions drawn.
Writer Kira Piekoff had her DNA tested by 23andMe and two
other companies and described the outcomes, specifically her reported risks of
disease, in a recent New York Times article.
She deduced that the confoundedly dissimilar test results sent back partly
stem from the fact that they’re garnered by reading segments of DNA called SNPs
for single nucleotide polymorphisms, which are not all the same among humans.
Piekoff explains that “scientists have identified about 10 million SNPs within
our three billion nucleotides. But an entire genome sequencing — looking at all
three billion nucleotides — would cost around $3,000; the tests I took examined
fewer than a million SNPs.”
Bioethicist and professor of clinical psychiatry at Columbia, Dr. Robert Klitzman, offers an analogy for the layperson: “Imagine if you took a book and you only looked at the first letter of every other page. You’re missing 99.9 percent of the letters that make the genome. The information is going to be limited.”
The article points out that solely focusing on genes is further limiting. “Even if they are accurately looking at 5 percent of the attributable risk,” says Dr. Wendy Chung, director of clinical genetics at Columbia, “they’ve ignored the vast majority of the other risk factors — the dark matter for genetics — because we as a scientific community haven’t yet identified those risk factors.”
Writing for Wired Magazine, Larry Downes and Paul Nunes defend companies like 23andMe, claiming that the FDA scuffle has more to do with the threat it presents to “existing markets and industries seemingly overnight by being simultaneously better and cheaper than the competition.” The authors contend that 23andMe is “one of hundreds of new startups aimed at giving healthcare consumers more and better information about their own bodies — information that has long been under the exclusive and increasingly expensive control of medical professionals.”
Anyone who still wants their raw DNA data analyzed for more information can visit Promethease.com. It takes $5 and about 10 minutes. The detail of the report depends on which service was used for the raw data.
Admittedly, soon after receiving test results that suggested he was at low risk for developing lung cancer, my work friend resumed a long dormant smoking habit — which can never be good.
Do you think companies like 23andMe should be allowed to send customers health risk assessments based on DNA analysis, or should this kind of information only be released under the consultation of a doctor? Tell us in the comments or in a blog post.