In a reversal of fortune for 23andMe, the US Food and Drug Administration (FDA) has granted the company the first-ever authorization for direct-to-consumer genetic testing for cancer risk without a prescription.
The approval comes four years after the FDA threw the brakes on 23andMe’s race across the consumer genetic testing landscape in a November 2013 warning letter that amounted to a cease-and-desist order.
The newly authorized test identifies three of 1000-plus mutations associated with breast cancer risk. In a statement, the FDA said that the three mutations 23andMe’s test evaluates are BRCA1/2 variants that occur most commonly in people of Ashkenazi Jewish descent. These mutations are not the most common of the BRCA mutations in the general population, the agency said.
According to a company statement, 1 in 40 people of Ashkenazi Jewish descent will carry one of these mutations, which for a woman confers a 45 percent to 85 percent chance of breast cancer arising by the time she reaches age 70. The variants also are associated with ovarian cancer in women and breast and prostate cancer in men.
23andMe founder and CEO Anne Wojcikci acknowledged that most cancer is not hereditary and that this test does not cover many variants tied to an even higher cancer risk.
The FDA echoes the caveat. Donald St. Pierre, acting director of the Office of In Vitro Diagnostics and Radiological Health in the FDA’s Center for Devices and Radiological Health, said in a statement that the utility of the test lies in offering information to a specific population that otherwise might not get genetic screening.
A Deep-dive Into Specialty Pharma
A specialty drug is a class of prescription medications used to treat complex, chronic or rare medical conditions. Although this classification was originally intended to define the treatment of rare, also termed “orphan” diseases, affecting fewer than 200,000 people in the US, more recently, specialty drugs have emerged as the cornerstone of treatment for chronic and complex diseases such as cancer, autoimmune conditions, diabetes, hepatitis C, and HIV/AIDS.
“The test should not be used as a substitute for seeing your doctor for cancer screenings or counseling on genetic and lifestyle factors that can increase or decrease cancer risk,” he said. Results also should not be used to guide treatment such as surgery or hormones, the FDA said.
23andMe earned the authorization based on data showing accurate identification of these three variants in saliva. The evaluation, through the FDA’s pathway for novel, moderate-risk medical devices, required greater than 99 percent accuracy and repeatability for the assay to be approved.
People who have already submitted saliva to 23andMe through its current services can access the reports, too. They have to actively choose to receive the information, and reports come with educational material to ensure that users understand the relevance of the results and any next steps. The Mountain View, California-based company already has approval to offer personal health testing for 10 noncancer conditions, including Celiac disease and Parkinson’s.
Meanwhile, before today, consumers had other options for personal genetic testing if they decided to jump through a few hoops. One such company, Color Genomics, also based in California, offers relatively inexpensive testing for consumers who can demonstrate a family history suggesting risk, with testing covering hereditary cancer syndromes, BRCA variants, and hypercholesterolemia. Users first gain approval for the testing from a physician, who orders the test, opening the way for the user to pay and submit a saliva sample. Patients can ask their own doctor to order the test or use Color’s online purchasing tool to get the required physician approval.
Clarification: A previous version of the story stated that an “online physician” orders the Color Genomics test. The story has been updated to reflect that patients can ask their own doctor to order the test.
