Confession: I had my DNA analyzed by 23andMe. And I have no regrets. I haven’t rushed to my doctor, jumped off  a bridge, or engaged in any risky medical behaviors. If anything, I’ve become more interested in genetics, learned about analyzing risk and “odds ratios,” and discovered some interesting information about myself.DNA

23andMe is a genomics company (backed in part by Google) that offers the general public access to genetic information. For $99, you can send in a saliva sample and get back a full suite of genetic details about yourself, including ancestry, physical traits, and risks of having certain medical conditions. Unless you have been hiding under a rock for the last few weeks, you likely have heard that 23andMe has been ordered to stop selling its product by the Food and Drug Administration (FDA).

So why is the FDA trying to shut 23andMe down? You can see the letter, dated November 22, 2013, from the FDA here:

The concerns outlined by the FDA include that 23andMe is “intended for use in the diagnosis of disease or other conditions or in the cure, mitigation, treatment, or prevention of disease” and “the potential health consequences that could result from false positive or false negative assessments.” The FDA suggests that someone with a false positive test could undergo serious medical procedures, or that someone with a false negative would neglect to do so.

The shutdown has caused a bit of uproar and a slew of opinions in the media, some which imply that the tests may be inaccurate. But is the ensuing debate really about the quality of the information you receive from 23andMe? From wading through many science blogs and articles, it appears that no, the consensus among many scientists is that the information you receive from 23andMe is reasonably accurate; in other words, the report you get from 23andMe can tell you which nucleotides are present in the parts of the genomic code that are analyzed.

Now, to be clear, 23andMe does not sequence the entire genome. Instead, they selected thousands of “SNPs” (single nucleotide polymorphisms) or fragments of DNA where there tend to be differences between individuals. Note that while most of our genetic code is the same, there are an estimated 10 million places where we differ—and 23andMe has targeted a subset of those genome locations for analysis.

So the crux of the argument is really how people will use the information they receive from the DNA test. Let’s face reality; we live in a world where information is everywhere. The internet alone has several “symptom interpreters” that could have a potential hypochondriac such as me thinking I have an entire spectrum of diseases. In addition, we love collecting data on ourselves, as the wave of popularity of personal fitness tracking devices and apps (e.g. Fitbit, JawboneUP) would suggest. Should these websites (such as WebMD and the Mayo Clinic’s symptom checker) and fitness trackers also be considered medical devices that need to be regulated by the FDA?

The risk of false positives and negatives could happen with any medical test, even ones done by your doctor. Hopefully anyone who received information from 23andMe indicating that they were at risk for a serious medical condition, such as breast cancer, would get further diagnostics done before getting a double mastectomy!
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