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FDA to 23andMe: ‘Stop Marketing Genetic Tests’

Rukovets, Olga

doi: 10.1097/01.NT.0000442990.19915.f8
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The US Food and Drug Administration, in a Nov. 22 letter, demanded that the privately held personal genomics and biotechnology company 23andMe stop marketing its genetic tests to the public. Experts in genetics respond to this decision.

The US Food and Drug Administration (FDA), in a Nov. 22 letter, demanded that the privately held personal genomics and biotechnology company, 23andMe, stop marketing its genetic tests to the public. Particularly, the FDA voiced concern about the “public health consequences of inaccurate results from the PGS [personalized genomic sequencing] device.”

The Agency noted that, despite “more than 14 face-to-face and teleconference meetings, hundreds of email exchanges, and dozens of written communications” that they have had with the company to ensure safety and proper use of the service, there is no evidence that “the firm has analytically or clinically validated the PGS for its intended uses, which have expanded from the uses that the firm identified in its submissions.”

23andMe, in response, has publicly admitted to falling behind on the FDA's protocols and has suspended its $99 “health-related genetic tests to comply with the US Food and Drug Administration's directive to discontinue new consumer access” during the review process. The company is only offering ancestry reports and raw genetic data to consumers at this time. In addition, a $5 million class-action lawsuit was filed on Nov. 27 by San Diego, CA, resident Lisa Casey on behalf “of herself and others similarly situated,” accusing the company of selling “meaningless” tests under pretenses of validity and reliability.

Neurology Today spoke with neurogeneticists and genetic counselors about the validity of the FDA's concerns with 23andMe, and the proliferation of direct-to-consumer genetic testing — the dangers, the benefits, and what the future may hold.

The FDA's alarm over 23andMe was largely justified, several experts told Neurology Today, as a personal genetic test has the potential to cause harm or confusion for the consumer — and their entire family.

Brent L. Fogel, MD, PhD, assistant professor of neurology at the David Geffen School of Medicine at the University of California, Los Angeles, and vice chair of the AAN Neurogenetics Section, commented on how direct-to-consumer reporting of genetic data might lead people to take actions which could seriously affect their health.

“Individuals using these services need to be made aware of the information being provided to them, specifically the differences between genetic risk and cause. Although there are some data suggesting that variations in certain genes may predispose a person to developing a common condition, such as heart disease or diabetes, in most cases it is not enough to make an accurate prediction. This should be spelled out to consumers, and differentiated from genetic mutations that directly cause specific diseases.”

“Genetic counseling services are also especially important when causative genetic mutations are being identified because the results affect not only the individual, but also their entire family,” Dr. Fogel said.

Another important question, Dr. Fogel said, is how people might be using this genetic information in the absence of guidance by a physician or genetic counselor. “One concern is that people may be making decisions about their personal health care which could have negative consequences, such as initiating a self-treatment or changing a prescribed medication. Hopefully they are taking the information to their physicians for further advice.”

Christopher Gomez, MD, PhD, professor and chairman of the department of neurology at the University of Chicago School of Medicine and chair of the AAN's Neurogenetics Section, called the FDA “open-minded” in even providing a path for regulation of these tests if the company complies with FDA recommendations.

Ellen T. Matloff, MS, a research scientist in the department of genetics and director of cancer genetic counseling at Yale Cancer Center, said, by combining testing like earwax type, hair curl, and eye color with risks for serious medical conditions, like Parkinson disease [PD] and breast cancer” 23andMe made its “true purpose unclear.”

The medical information, she said, was also a hybrid, “combining SNP [single-nucleotide polymorphism] panels of questionable validity with selected mutations in genes, like BRCA1 and BRCA2, with known high lifetime cancer risks.”

Even with already FDA-approved genetic tests like those by Athena Diagnostics, Dr. Gomez explained, there is still plenty of room for error. Speaking from his own experience with patients, he said the true meaning of a genetic variant is often confusing. “I've had patients come in who are distressed because they believe they have a disease. And I have to calm them down and explain that this test only means you have a variation in a gene. Some mutations in this gene are known to cause disease. It does not mean your specific mutation is a problem.” A lot of explaining needs to accompany these results, he said, and even the referring doctors often have trouble interpreting the findings.

It's especially concerning when causative mutations are identified because “they are also diagnosing their entire family,” Dr. Fogel said. For some, ordering a test is akin to opening Pandora's box. Jill Goldman, MS, MPhil, a genetic counselor at the Taub Institute and The Center for Parkinson's Disease & Related Disorders at Columbia University Medical Center in NY, recalled a woman who called her office in distress after ordering a genetic test because of her family history of cardiac risk. But what she did not anticipate was her positive apolipoprotein E result — “she hadn't even thought about the connection to Alzheimer's disease.”

On the other hand, when a patient is negative for a certain risk gene, there is the chance that he will forgo regular examinations based on that, Goldman said. A lesser noted concern is that many of the mutations 23andMe screens for are specific to whites, so other ethnic groups may not even be testing the right genes, she said.

There are certainly many details to iron out, agreed J. William Langston, MD, scientific director and chief executive officer and founder of the Parkinson's Institute, but he believes this discussion with the FDA is a major stepping stone — “it's similar to the early days of clinical trials. It was wild country until the FDA and clinical research centers were able to work out rules for what they felt were good and high quality clinical standards.” This weeded out the unethical pharmaceutical companies, and made the good companies better, he added. (Dr. Langston serves on 23andMe's Parkinson's Research Community Scientific Advisory Board.)

He compared the direct-to-consumer debate to the introduction of home pregnancy testing — “when the home pregnancy tests first became direct-to-consumer, there was a huge outcry from the medical community that this test should be under the purview of the physician; that if a woman found out on her own, she wouldn't know what to do with it. But now, who would even question that?”

There is a generational split when it comes to this discussion — with younger clinicians more comfortable moving into the uncharted world of personalized medicine, he said. “I think in the long run, this is the future — and 23andMe is blazing the trail. My feeling as a clinician and basic researcher is that in 10 years, after the regulatory issues have been worked out, this whole argument is going to be viewed as mundane and irrelevant.”

Dr. Langston and the Parkinson's Institute are collaborating with 23andMe for a project funded by the Michael J. Fox Foundation to gather genetic data and epidemiologic questionnaires from 10,000 PD patients. “There is some noise in there because the diagnosis is self-reported, but once you get a large enough group, you can withstand some noise,” he explained, adding that the epidemiologic questionnaires should filter out most of the misreported diagnoses. Using the Internet and companies like 23andMe for research has the potential to overcome significant geographic and economic barriers, he said. [See Neurology Today's story on this research:]

One important question, according to Dr. Fogel, is what people are doing with this genetic information. “Are people making health care decisions? Are they self-treating based on these kinds of results? Are they taking the results to the doctor? Are they going and seeing the doctor when they wouldn't necessarily have done so?”

It is also troubling, said Matloff, that the company has “marketed their product for adult-onset conditions for ‘use with newborns and children,’” which clearly contradicts international guidelines from numerous medical societies. The answer, she said, may be for companies such as 23andMe to “partner with clinical genetic counselors who are expert at ethical guidelines and accurate result interpretation, and explaining those results to consumers in understandable terms.”

There are already direct-to-consumer companies that have genetic counselors available, Goldman said. Even then, for many of these companies, it's not a requirement to go through counselors to order the testing. “The rationale is that people should have a right to their own genetic information, that we shouldn't be paternalistic — but a lot of it is highly sensitive medical information.”

These private companies, she said, don't want a “gatekeeper because you're not going to make money if there is a gatekeeper — and that's a big concern.” Somehow there needs to be a balance between getting good meaningful information and “having the right to it.” One website called Counsyl, which provides genetic information mainly for autosomal, recessive genes that are used for prenatal screening, provides information to the consumer, but it has to be ordered through a medical center. That's one option 23andMe might consider, Goldman told Neurology Today.

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•. FDA warning letter to 23andMe:
    •. 23andMe responds to the FDA:
      •. Class-action lawsuit against 23andMe:
        •. Previous coverage of 23andMe in Neurology Today:
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