23andMe Receives FDA Authorization, Will Not Share Test Results

By Bio-IT World Staff

February 20, 2015 | The FDA has authorized 23andMe to offer its Bloom syndrome carrier status report to customers, CEO Anne Wojcicki said in an email to customers last night, but the company will not be making the reports available.

Instead, the company sees the authorization as an important first step for the company’s eventual, “more comprehensive health product offering.”

FDA ordered 23andMe to stop marketing its direct-to-consumer genetic tests in November 2013. 23andMe complied with the order, but continued to offer hereditary findings and move forward with its research initiatives, announcing a two-year grant of almost $1.4 million from the National Institutes of Health to expands its genomic database and collaborating with Pfizer in a deal of undisclosed value.

Meanwhile, 23andMe hired new regulatory counsel last April, and announced that it was pursuing FDA approval for the Bloom syndrome carrier status report last June.

The original application for approval was a 510(k) application, which was converted to a de novo request. The de novo process is used by the FDA to grant marketing authorization for novel devices of low to moderate risk when there is no substantially equivalent product with which to compare it.

Along with this authorization, the FDA is also classifying carrier screening tests as class II, the agency said in its press release. The FDA intends to exempt these devices from FDA premarket review, a development that will open to public comment for 30 days. “This action creates the least burdensome regulatory path for autosomal recessive carrier screening tests with similar uses to enter the market,” the agency said.

The agency’s language in its announcement stresses that the approval is for a carrier screen.

“The FDA believes that in many circumstances it is not necessary for consumers to go through a licensed practitioner to have direct access to their personal genetic information. Today’s authorization and accompanying classification, along with FDA’s intent to exempt these devices from FDA premarket review, supports innovation and will ultimately benefit consumers,” said Alberto Gutierrez, Ph.D., director of the Office of In Vitro Diagnostics and Radiological Health in the FDA’s Center for Devices and Radiological Health in the statement. “These tests have the potential to provide people with information about possible mutations in their genes that could be passed on to their children.”

Bloom syndrome is an autosomal recessive disorder that is rare, but more common in people of Central and Eastern European, or Ashkenazi, Jewish background.

According to a 23andMe blog post, “de novo marketing authorization means that 23andMe met the FDA’s premarket requirements to demonstrate the following: accuracy, validity and user comprehension.”

FDA listed four studies conducted by 23andMe that led to the authorization:

23andMe performed two studies of 228 samples to demonstrate that their test is accurate in detecting Bloom syndrome carrier status. Both studies showed equivalent results in detecting carrier status of Bloom syndrome when the same samples were tested.

A usability study of 295 people not familiar with the 23andMe saliva collection device demonstrated consumers could understand the test instructions and collect an adequate saliva sample.

Finally, the company conducted a user study of 302 randomly recruited participants representing the U.S. general population in age, gender, race and education level to show the test instructions and results were easy to follow and understand.

The third study and possibly the fourth could be considered in future applications.

23andMe believes that the authorization reveals a regulatory avenue for direct-to-consumer genetic testing. “Working in close collaboration with the FDA, we believe we have begun to establish the parameters for future submissions,” the company said.

“Future submissions will be based on the learnings we gained during the Bloom syndrome review process. Because this process was successful, we may be allowed to provide some reports without premarket review and to submit some future submissions through the standard 510(k) pathway.”

Those steps are still unclear, though. In her email to customers, Wojcicki thanked them for their support: “It's been a challenging and exciting time for consumer genetics,” Wojcicki said. “Your support and stories sent along the way make my job worthwhile.”