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First Direct-to-Consumer Genetic Test Gains FDA Approval

Silas Inman @silasinman
Published: Friday, Feb 20, 2015

Alberto Gutierrez

Alberto Gutierrez, PhD

The FDA has approved its first-ever direct-to-consumer genetic test for the detection of a gene variant that could be associated with Bloom syndrome, a rare inherited disorder associated with a higher risk of developing cancer and other health concerns.

The approval follows the completion of two studies that demonstrated the accuracy of the test, known as the Personal Genome Service (PGS). These analyses compared results from the direct-to-consumer test with findings from genetic sequencing, with a 100% agreement between the two methods.

“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," Alberto Gutierrez, PhD, 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. "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.” 

The test is capable of detecting alterations in the BLMAsh variant in the BLM gene. In the two pivotal studies, two sets of saliva samples were analyzed in separate labs. Each set contained 65 normal samples and 5 with known BLMAsh variant status. Overall, the PGS test and sequencing agreed in 70 of 70 samples.

As part of the approval, the FDA required that results should be conveyed in a way that consumers can understand and use. In a usability study of 295 individuals who were unfamiliar with the system, a majority of individuals were able to understand the results. This was also clear in a study of 302 randomly selected individuals. Across all usability studies, more than 90% of users understood the test results.

“These tests have the potential to provide people with information about possible mutations in their genes that could be passed on to their children,” Gutierrez said.

The PGS test is manufactured by 23andMe, which previously marketed a similar device in the US until 2013 when the FDA directed the company to stop selling the test. In a warning letter to the chief executive officer and co-founder of 23andMe, Anne Wojcicki, the FDA requested the company to stop all sales of the PGS test under the Federal Food, Drug, and Cosmetic Act (FD&C).

After ceasing production of the test and the completion of clinical trials, the company was able to submit for marketing approval. This application led to the approval of PGS for Bloom syndrome.

"This important first step would not have been possible without the hard work and guidance of the FDA,” Wojcicki said in a statement.

The earlier version of the PGS test focused on more than Bloom syndrome identification, which the FDA called into question, specifically the detection of BRCA. The new marketing approval for PGS is specific to Bloom syndrome and does not include prior applications for the test.

“We have more work to do, but we remain committed to pursuing a regulatory path for additional tests and bringing the health reports back to the US market," noted Wojcicki.

Those with a known family history of the genetic disorder should primarily utilize the test, the FDA suggested. The PGS test will likely hold the greatest promise for people of Central and Eastern European, or Ashkenazi Jewish background. Approximately 1 in 107 people of Ashkenazi Jewish descent are genetics carriers for Bloom syndrome.

“This regulatory process helped establish the parameters for consumer genetics," Kathy Hibbs, 23andMe’s chief regulatory and legal officer, said in a release. "We are pleased with the Agency’s decision and its affirmation that consumers can understand and benefit from direct access to genetic information.”

23andMe, based in Mountain View, California, has a number of projects currently in progress. In early 2015, the company announced a $60 million collaboration with Genentech focused on whole genome sequencing for approximately 3000 people with Parkinson’s disease.

In August 2014, the company entered into an agreement with Pfizer to conduct a study designed to examine the genetics of 10000 individuals with inflammatory bowel disease. In mid-January, this deal was expanded to include 5000 patients with the autoimmune disease lupus.


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