23andMe Relaunches Lower-Risk DTC Genetic Tests

October 30, 2015

The personal genetics testing company called 23andMe relaunched a scaled-back package of lower-risk health tests last week, almost a year after it halted such services on orders from the US Food and Drug Administration (FDA).

The new product lineup has the FDA's blessing, but not necessarily that of medical geneticists, who believe that marketing these tests directly to consumers can leave them bereft of expert clinical advice.

Gone are 122 risk tests for diseases ranging from Alzheimer's to breast cancer and another 25 tests for responses to drugs such as metformin and statins that 23andMe used to offer. Instead, the company is limiting its health-oriented genetic tests to carrier status, and only for automosomal recessive conditions such as cystic fibrosis, sickle cell anemia, and Tay-Sachs disease. These tests are typically sought by young couples who want to know if each of them carries an abnormal allele of the gene in question, in which case there would be a 25% likelihood of their offspring having the condition.

23andMe bundles the carrier status tests with tests for ancestry, personal traits such as hair curliness and earwax type, and four so-called wellness reports: Lactose intolerance, alcohol flush reaction, muscle composition, and caffeine consumption.

The company reintroduced its carrier status tests after the FDA approved its one for Bloom syndrome in February. At that time, the FDA also announced that it was classifying carrier screening tests for autosomal recessive conditions as Class II devices and intending to exempt them from premarket review, which can take several forms. The agency ruled that consumers did not need "to go through a licensed practitioner" to find out if they were autosomal recessive carriers, provided that they could understand both test instructions and test results. In addition, the FDA said that 23andMe must provide consumers with information on finding a board-certified clinical molecular geneticist — or an equivalent professional — for counseling, if they desire this help.

Although 23andMe could have begun marketing its carrier test for Bloom syndrome earlier this year, the company waited until last week to roll it out together with its other carrier tests.

A Question of Risk Level

23andMe marketed a more ambitious array of direct-to-consumer (DTC) genetic tests for health before the FDA told it to stop in November 2013. It told the company then that it was selling its saliva collection kit and "personal genome service" without market clearance or approval.

In its warning letter, the agency said some of its genetic services were "particularly concerning." Drug response testing posed the risk of patients relying on test results to manage drug regimens on their own. They might change the dose or stop taking a drug altogether, which could be deadly. Likewise, the agency fretted over the possibility that women might choose to undergo prophylactic surgery or chemotherapy if they received a false positive from the company's carrier test for BRCA mutations.

The company immediately complied with the FDA directive to stop marketing its health-related genetic tests, including 53 for carrier status, and vowed to get in the agency's good graces. That happened when the FDA in February approved the company's carrier test for Bloom syndrome, characterized by stunted growth, sunlight sensitivity, and an increased risk for infections and cancer. The test proved accurate in two studies conducted by 23andMe, the FDA said. Other studies showed that consumers could understand test instructions, collect a saliva sample, and make sense of the results.

23andMe originally sought approval of its Bloom syndrome test through the FDA's 510(k) approval process, which requires that a manufacturer prove only that its product is substantially equivalent to a "predicate" already on the market. It is far less rigorous than the FDA's premarket approval process. The agency determined that there was no 510(k) predicate for the company's test, however, and approved it instead through its "de novo" process, designed for novel low-to-moderate-risk medical devices.

The FDA also said in February that it planned to exempt autosomal recessive carrier tests like that for Bloom syndrome from any kind of premarket vetting in light of their relatively low risk. On October 27, the agency published an official notice of its intent to do so in the Federal Register, and set forth its reasons why.

Autosomal recessive conditions are very rare, the FDA explained in the notice, and even in demographic populations more prone to them (think sickle cell anemia for African Americans), the incidence rate tends to be low. By its very nature, carrier status has no health implications for the person tested, regardless of the results. FDA "controls" such as clear patient instructions on how to take the tests and interpret the results would mitigate the risks of false positives or negatives, which would "not be associated with high morbidity or mortality."

The FDA will collect public comments on its plan until November 27. In the meantime, 23andMe is marketing its complete lineup of autosomal recessive carrier tests. FDA spokesperson Eric Pahon told Medscape Medical News that until the proposed exemption is written in regulatory stone, the agency is exercising "enforcement discretion" in regard to the company's tests.

"We don't want to hold up innovation," Pahon said. "If we feel these things will be exempt eventually, we want to help the process along."

23andMe doesn't have a green light, however, to market carrier tests for other kinds of inherited conditions, such as the one for BRCA mutations. Angela Calman, the company's vice president of communications, said 23andMe is trying to chart a comeback path for more of its health tests, including those for disease risk.

"We're working very hard to figure out with the FDA what needs to be done for them to be direct to consumer," Calman told Medscape Medical News.

The higher risk represented by DTC genetic tests for conditions such as cancer and Alzheimer's disease is the sticking point. Their risk reflects not only the severity of the condition, but also a patient's possible response, which may be drastic, to test results. Those for the BRCA test might prompt a woman to undergo a double mastectomy, for example.

American College of Medical Genetics and Genomics Still Has Reservations

The DTC health tests now offered by 23andMe pass muster with the FDA for all intents and purposes, but the American College of Medical Genetics and Genomics (ACMG) remains troubled at the prospect of do-it-yourself diagnostics.

"Our organization certainly understands the interest in direct-to-consumer testing," said ACMG president Gerald "Jerry" Feldman, MD, PhD, in an interview with Medscape Medical News. "But we want to make sure that consumers recognize that genetic testing and interpretation are complex, and genetic experts should be available to help with the process."

Dr Feldman noted that although the FDA requires 23andMe to tell consumers how to find a medical geneticist to talk things over, no one is obligated to obtain this counseling.

"We feel that patients should have involvement with a board-certified professional," he said.

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