Back in 2013, the FDA forced 23andme to pull its DNA testing kits in the United States, saying the personal genetics company was offering an untested diagnostic device. Now the FDA has given the okay for 23andme to test for one specific genetic disorder — a potential sign that the company's full offering may stage a comeback.
The U.S. Food & Drug Administration has given the approval for 23andMe to market its Bloom Syndrome carrier test via its direct-to-consumer genetic health kit. Consumers can use this test to determine whether a healthy person has a variant in a gene that could lead to their children inheriting the disorder.
Bloom Syndrome is a serious genetic disorder characterized by short stature, sun-sensitive skin changes, an increased risk of cancer, and other health problems. Other features include learning disabilities, an increased risk of diabetes, chronic obstructive pulmonary disease (COPD), and persistent infections during infancy of the upper respiratory tract, ears, and lungs. It's a rare disorder, affecting about 1 in 50,000. Approximately a third of people with Bloom Syndrome are of Ashkenazi Jewish descent.
The FDA's decision is an important one in that the federal regulator and the company have struggled over the past 14 months to find common ground in what is uncharted territory. It's clear the FDA is starting to change its tune about DTC tests, writing:
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. These tests have the potential to provide people with information about possible mutations in their genes that could be passed on to their children.
The FDA will also issue a notice announcing its intent to exempt these tests and provide a 30-day period for public comment.
"This action creates the least burdensome regulatory path for autosomal recessive carrier screening tests with similar uses to enter the market," writes the FDA.
In a statement of its own, 23andMe said it's "an important first step in fulfilling our commitment to return genetic health reports to consumers in the US," adding that it's "the first time the FDA has granted authorization to market a direct-to-consumer genetic test, and it gives 23andMe a regulatory framework for future submissions."
Prior to this approval, the FDA was concerned about 23andme's claim that the kits can provide accurate information about medical conditions, and that people may try to treat themselves without medical supervision. The regulator was likewise worried about false positives or false negative assessments for high-risk indications.
To get the approval for the Bloom Syndrome health kit, 23andMe performed two separate studies to demonstrate the accuracy of its tests (using a total of 123 samples, including some with the disease), along with a 295-person usability study and a study of 302 randomly recruited participants to show that the tests were easy to follow and understand.
It's a template that 23andMe can now use to iteratively add more genetic tests to its kit.
"The FDA has been incredibly responsive throughout our review and the agency has demonstrated its support for direct to consumer genetic testing," writes Anne Wojcicki at the 23andMe blog. "We will continue to work with the FDA to ensure that all future health submissions meet the agency's standards."