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The FDA and 23andMe: Regulating Direct-to-Consumer Genetic Tests

 Close up of mouth being swabbed for DNA

Many people have heard of the company 23andMe; hundreds of thousands throughout the world have used the company’s Personal Genome Service (PGS), which provides a report that offers detailed information about an individual’s DNA. For $99, a consumer receives a test-tube kit from the company, fills the tube with saliva and sends it back. The company then performs a DNA analysis and provides information about the person’s health risks, ancestry and other characteristics. The website says: “Reports on 240+ health conditions and traits. Discover your lineage, find relatives and more. Get updates on your DNA as science advances.”

On November 22, 2013, the FDA sent a warning letter to the company, stating that it was marketing the PGS without proper clearance or approval. The FDA is responsible for giving regulatory approval for devices as well as for drugs. The detailed letter sent to 23andMe reports a history of interactions going back several years, during which time the company repeatedly failed to comply with requirements specified by the regulatory agency. The FDA’s letter says:

[M]ore than 5 years after you began marketing, you still had not completed some of the studies and had not even started other studies necessary to support a marketing submission for the PGS.

The letter calls for 23andMe to discontinue marketing the PGS until it receives FDA marketing authorization.

What is at stake here? Two issues need to be distinguished. The first is the accuracy of the device, which the FDA claims falls within its mandate. The agency’s role, specified in the Federal Food, Drug and Cosmetic Act, is to ensure the safety of drugs and devices marketed to the public. Here is what the FDA said in its November 22 letter to 23andMe:

FDA is concerned about the public health consequences of inaccurate results from the PGS device; the main purpose of compliance with FDA’s regulatory requirements is to ensure that the tests work.

So that is the first issue: Does the PGS provide accurate results? Few people would object to a regulatory agency that requires evidence of the safety and efficacy of health-related products sold to the public.

But there is a second issue: what people do with the information provided by direct-to-consumer marketing. The FDA is acting well within its mandate in seeking to ensure the accuracy of the PGS. As an example, the letter to the company says: “If the BRCA-related risk assessment for breast or ovarian cancer reports a false positive, it could lead a patient to undergo prophylactic surgery, chemoprevention, intensive screening, or other morbidity-inducing actions, while a false negative could result in a failure to recognize an actual risk that may exist.” Here the agency expresses concern about what people who receive information will do with that information, possibly making medical decisions without proper consultation with doctors. As long as the PGS device could provide inaccurate results, the FDA is on firm ground with these concerns.

But what if corrective actions are taken and the company finally complies with the FDA marketing requirements? Some remarks in the FDA’s letter to 23andMe suggest that even if a device is accurate, risks still may exist with direct-to-consumer diagnostic kits. The letter mentions “the risk that a direct-to-consumer test result may be used by a patient to self-manage” and states that “serious concerns are raised if test results are not adequately understood by patients.” Quite properly, the FDA’s main concern lies with what it has determined to be the company’s failure to comply with FDA requirements for ensuring the accuracy of test kits. But that is where the role of a regulatory agency should stop. Direct-to-consumer marketing of diagnostic products—even when FDA approved—may carry risks because of what people decide to do with the information. In most areas of life, people are free to take health-related risks, with appropriate warning but without governmental prohibition. The same should be true of personal DNA information, which properly belongs to the individual.

Developments that have occurred after the FDA’s November 22 letter indicate that this is a case to watch, as it may have broader implications for direct-to-consumer diagnostic kits. 23andMe has stopped providing health results to people who purchased the kits after the FDA’s letter to the company. Days later, a class-action suit was filed in California against the company for false and misleading advertising. Among other charges, the lawsuit alleges that 23andMe markets the information it collects from DNA tests “to other sources and the scientific community in general, even though the test results are meaningless.” (The case is available at https://www.scribd.com/doc/188743620/Casey-v-23andMe.)

Whatever the outcome of the lawsuit, the FDA’s action and people’s eagerness to obtain their genomic information indicate the need for public education. Except for specialists in human genetics, even many doctors lack sufficient training to interpret the results of genetic tests. Since virtually all genetic predictions about future disease are probabilistic, consumers need to exercise caution when drawing conclusions regarding worst-case scenarios.

The question arises: whose obligation is it to develop and provide proper consumer education about genetic tests?

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Comments on this entry are closed.

  • Paul Marantz December 13, 2013, 2:22 PM

    In her typically well-reasoned post, Dr. Macklin importantly distinguishes the FDA’s obligation to ensure test accuracy from its concern about whether consumers may misunderstand or misuse the information from the tests, which she believes is inappropriate. While I find her argument enlightening and reasonable, I worry about whether the public understands just how hard it really is to interpret test results – especially given that even the most “accurate” tests fall short of 100% accuracy. Couple this with limited abilities in probabilistic reasoning (https://nrich.maths.org/7326) and there is the virtual certainty that wide, direct-to-consumer use of this type of technology will lead to lots of misunderstanding and inappropriate behaviors. Even if the FDA’s desire to protect the public from its own ignorance is paternalistic and overstepping: I think it’s an understandable concern about a real problem. As for “whose obligation is it to develop and provide proper consumer education?”: as someone who has taught this sort of stuff to medical students for 25+ years, I’m not volunteering, and would note that this is something that even very smart people struggle to understand. Here’s a quick example: if you’ve got a test with 95% sensitivity and 95% specificity – most would call this a very accurate test – and screen a population with a 1% prevalence of the condition you’re looking for – a fairly high prevalence for a screening test – then of 100 positive tests you receive, 84 will be false positives. Reiterating: 84% of all positives will be false positives! Those false positive tests will lead to further (arguably unnecessary) testing, and sometimes treatment. So here’s a question: given that anyone can choose to plunk down a few hundred bucks of his own money for a 23andMe test, who should pay for the subsequent testing and care engendered by the misleading results of that initial test?

  • Laura December 18, 2013, 12:21 PM

    Dr. Macklin,
    Thank you for writing this post. When I first heard marketing about 23andMe I thought to myself what a wonderful idea. I planned on using their service in the new year. However, you bring up some very good questions. What about getting a false negative. That could give someone a false sense that everything is fine when it isn’t. This could lead someone to delay tests that could find a real problem. You changed my viewpoint.

  • From Kansas December 26, 2013, 9:59 PM

    I purchased the 23 and me service because of a family history of breast cancer. I was very relieved to see that I don’t have either of the two brca mutations that they test for. My medical insurance would not pay for this type of testing and I have no desire for any genetic counseling. I haven’t read about any cases where people have gotten follow up tests that contadict the results from 23 and me. I am very happy that I took advantage of the service while it was still available.