WASHINGTON — Federal health officials this week allowed a genetic testing firm to sell kits to consumers to test whether they carry gene mutations that put them at higher risk for breast and ovarian cancer.
The action, part of a broader regulatory shift, is the first time the Food and Drug Administration has allowed a company—in this case 23andMe Inc.—to market such a cancer risk test directly to the public.
It also touched off a debate about whether marketing such tests directly to consumers is an advance that will help them better understand their health risks, or a slippery slope to more mail-in tests that could be easily misread by patients and even doctors who don’t specialize in genetic mutations.
Under Commissioner Scott Gottlieb, the FDA has begun to ease the path to market of tests from an industry—called the laboratory-developed test business—that makes thousands of diagnostic tests and generates billions of dollars in annual sales. In interviews and a policy address this week, Dr. Gottlieb laid out details of his lab-test deregulatory efforts, including the 23andMe decision. 23andMe said its approval was through a different process; but it was speeded up by the agency.
This new direction for the FDA generally reverses course from Obama-era plans to more closely scrutinize this industry. “Lab-developed” diagnostic tests are those developed and used at hospitals and corporate labs to test blood and other cell samples sent in by doctors and hospitals. These differ from the traditional lab business, in which companies sell diagnostic equipment to hospitals.
Recent FDA steps “represent an evolution that’s been under way,” said Dr. Gottlieb in an interview. “We’re creating structures that represent a more efficient regulatory framework.” The FDA stresses that it assessed the scientific precision of 23andMe genetic work in general, and thus could more quickly approve the cancer risk test.
The test worries some experts in the field. The American Cancer Society’s medical and scientific director, Otis Brawley, said these mutations are a very “incomplete picture of a person’s true cancer risk. Most doctors don’t understand this stuff, and that’s what genetic counselors are for.”
Rita Redberg, a cardiologist and editor of JAMA Internal Medicine, said she would want to see evidence that the 23andMe test is truly of benefit. “Unless this is going to save lives, we shouldn’t be rushing this out to the general public,” she said.
The debate feeds into a larger one about how the government should regulate the lab-developed test business, which has mushroomed in the more than three decades since it arose. One of the first to create such a model was the Mayo Clinic in Minnesota. It uses its own tests to evaluate thousands of such patients’ samples flown in daily. The field now features some of the world’s most sophisticated tests, such as “next-generation sequencing” diagnostic analysis of multiple mutations in cancerous tumors.
In the case of 23andMe’s cancer assay, the three mutations measured are most common in people of Ashkenazi, or Eastern European Jewish descent. The mutations are present in about 2% of women in that group.
Kathy Hibbs, the company’s chief legal and regulatory officer, said its cancer mutation report can benefit people who carry the mutations “and are likely unaware and might never have met the criteria required for a genetic counseling appointment or testing.”
She said the company demonstrated to the FDA that the product was safe and effective and that it includes “extensive labeling which was reviewed and heavily edited by the FDA to mitigate this potential risk.”
The cost of a 23andMe test kit is $199.
Under the Obama administration, the FDA had focused its concern on lab-test accuracy and safety. The agency said in 2015 that “inaccurate results” from lab tests could cause patients “to elect unproven therapies over proven ones or can cause patients unnecessarily to undergo uncomfortable and even dangerous procedures.” It cited accuracy and other problems in certain tests for heart disease, ovarian cancer, Lyme disease, whooping cough and autism.
The emphasis has shifted now toward simplified approvals of innovative tests. After President Donald Trump’s election, the Obama FDA backed off from lab-test regulatory plans.
In a talk this week to the American Clinical Laboratory Association, an industry group, Dr. Gottlieb said the FDA is sometimes taking its lead from the New York State Department of Health. Once New York has approved a laboratory test, the labs “do not need to submit separate applications” to the FDA, he said. The New York agency’s approval process is regarded as particularly meticulous.
Dr. Gottlieb said the FDA hopes “that additional accredited, third-party reviewers” can fulfill such a role. The program, he said, “is designed to reduce the burden on test developers and streamline” the assessment of “innovative products.”
He also described a “flexible” FDA evaluation of “next-generation sequencing” devices that will analyze a broad series of thousands of genes to identify cancer-related mutations. He said the agency is “developing policies that will permit more tests to be exempt” from extensive review by the FDA before being on the market.
Dr. Redberg said she is concerned about the use of words like “innovative” and “flexible,” without mentioning evidence. “No matter what you call it, you need data showing that this is good for patients,” she said.
Dr. Gottlieb said he is working with lawmakers in Congress to produce legislation to clarify this field, and officials from the ACLA agree that legislation is needed.
“I’m actively working with Congress to craft legislation specifically tailored to this space,” Dr. Gottlieb said. “There continues to be variability in lab-developed tests, and tests that haven’t been properly validated can sometimes present serious risks.”
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