December 20, 2013

By: Josephine Johnston

On November 22nd, the FDA sent a Warning Letter to 23andMe ordering it to immediately discontinue marketing and selling its personal DNA testing kits (i). 23andMe is one of the few remaining companies selling DTC genetic tests that provide health-related information (as compared say with ancestry information), and its test looks for genes and gene variants relevant to those of us with an interest in PNB genetics. According to the company’s website, the test looks for risk for alcohol dependence, Alzheimer’s disease, Bipolar disorder, cluster headaches, Creutzfeldt-Jakob disease, developmental dyslexia, Lou Gehrig’s Disease (ALS), neural tube defects, narcolepsy, nicotine dependence, Parkinson’s disease, schizophrenia, tardive dyskinesia, and Tourette’s syndrome, as well as carrier status for the neurological conditions Canavan disease, and Leigh syndrome, French Canadian Type (ii). It also looks for a variety of genes associated with what they call “traits,” including a gene that is thought to mediate the impact of breast milk on IQ, (iii) genes affecting a person’s propensity to avoid errors (iv), and genes impacting short-term memory (v).

Since the letter was made public, questions have been raised about whether the FDA was overreaching by extending its jurisdiction to 23andMe’s saliva collection kits, or overreacting by classifying the kits as risky medical devices.

Whether you think the FDA is overreaching its jurisdiction may depend on whether you agree that the DNA testing kits that 23andMe has been selling meet the definition of a medical device in the federal Food, Drug and Cosmetic Act. The FDA says they do because they are “intended for use in the diagnosis of disease or other conditions or in the cure, mitigation, treatment or prevention of disease.” (iv) To support this interpretation, the FDA points to the 23andMe’s marketing of the kits as providing “health reports on 254 diseases and conditions” including information about an individual’s “carrier status, health risks, and drug response.” The FDA also cites the company’s website as saying that the kits are a “first step in prevention” and that they enable users to “take steps toward mitigating serious diseases” like diabetes, coronary heath disease, and breast cancer.

If the FDA is not overreaching its jurisdiction, is it overreacting to what 23andMe is selling? Not all medical devices are regulated the same way. Each device is classified based on the risks it presents to the patient. Devices in Class I, like tongue depressors, are considered low risk and are usually subject only to general regulatory controls regarding things like labeling and prevention of contamination. Class III devices, in contrast, are considered high risk and will typically require pre-market approval by the FDA much like a new drug. Examples of Class III devices include replacement heart valves and silicone breast implants. The FDA says in the warning letter that 23andMe’s personal DNA collection kits fall into Class III.

In support of its assessment of the kits’ riskiness—and therefore the need for pre-market approval—the FDA points to the potential for test results to be used to make decisions with major health consequences, such as whether to undergo prophylactic surgery if a patient tests positive for BRCA genes (increasing the risk for breast and ovarian cancer), or whether to self-manage medicine dosages if a patient tests positive for genes associated with warfarin drug response. False negatives or false positives on any of these tests could have dramatic consequences for a patient’s health, the FDA claims. One can also imagine that users might rely on the test results—including those regarding PNB traits—when making reproductive decisions—perhaps including whether to reproduce at all. With such high stakes, it is important, the FDA states, that the tests are providing valid information and that they have low false positive and false negative rates. Until 23andMe can satisfy the FDA’s requirements for evidence about the kits’ safety and effectiveness, it is ordered to stop selling them.

One person who thinks that the FDA is both overreaching and overreacting in its assessment of 23and Me’s DNA collection kits is Nita Farahany of Duke University’s Institute for Genome Sciences & Policy.(vii) During an interview on the radio show “The Takeaway”, Farahany describes 23andMe’s kits as “a really terrific step towards the democratization of science,” since they are “making genetic information available to people” and are providing “education about what genomics means and what predisposition information means.” She does not see the tests as risky, and instead likens them to “Fitbit trackers and other types of health trackers.” She says that the kit “is not intended for or designed to be a diagnostic test,” but is instead providing genetic predisposition information, which “doesn’t diagnose you with a condition,” but instead gives “some probabilistic information that might guide you down different paths in life.” (viii)

In the end, whether you take Farahany’s approach or the FDA’s should depend not on whether you think access to information about your genome could be useful, or interesting, or life-changing—one can easily imagine that it could be all those things and more. Instead, your view of the FDA’s action against 23and Me should depend on whether you think that the government ought to play a role in ensuring that the information your receive from a test like this is valid and reliable.