FDA Clears Sale of First Direct-to-Consumer Genetic Test

Rabiya Tuma, PhD

February 19, 2015

The US Food and Drug Administration (FDA) announced today that they have authorized marketing of a direct-to-consumer genetic test from 23andMe.The test is designed to identify healthy individuals who carry a gene that could cause Bloom syndrome in their offspring.

The agency also noted that it will now classify carrier screening tests, such as this one, as class II products, which means they are subject to general and special controls. Special controls can include performance standards, postmarket surveillance, patient registries, special labelling requirements and guidelines.

The agency, however, specifically noted that they will not require premarket reviews for direct-to-consumer carrier screening tests. The agency plans to announce their intention of exempting these products and will have a 30-day public comment period regarding that decision.

"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," said Alberto Gutierrez, PhD, director of the Office of In Vitro Diagnostics and Radiological Health in the FDA's Center for Devices and Radiological Health, in the agency press release.

"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," he said.

Bloom syndrome is an autosomal recessive disorder, which means that carriers may be unaware that they carry a mutation in the BLM gene, but their child could be affected. The syndrome is characterized by short stature, usually under five feet, sun sensitivity, and an increased risk for cancer.

The syndrome is rare among the general population but is more common in the Central and Eastern European (Ashkenazi) Jewish population. In that group, approximately one in 50,000 people are affected.


Labeling Requirements


The agency notes that while it is not regulating who can purchase or use the tests, the company is required to provide adequate information in the label such that users will understand what the test mean, and, if sold over the counter, how they can reach a board-certified clinical molecular geneticist or equivalent for pre- and post-test counseling.

The approval is a significant shift in direction for the agency. In November 2013, the FDA sent 23andMe a warning letter directing the company to stop selling a Personal Genome Service. The letter said the company had not obtained proper approval or demonstrated that their tests were accurate and clinically meaningful.

In the press release today, the agency notes that two studies, involving 228 samples in a total of four laboratories, have been done to show that the Bloom syndrome test is accurate. The company also performed usability testing to ensure that consumers could collect an adequate saliva sample.


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