A Food and Drug Administration decision Thursday on a new genetic test could have broad implications for other yet-unapproved genetic tests. Indeed, in issuing its ruling, the FDA said it is considering deregulating a broad class of genetic screening tests. Such tests will no longer require pre-market review, the FDA explained.
Approved this week is health tech startup 23andme's direct-to-consumer genetic test for Bloom's Syndrome, a rare condition that occurs mostly in patients with Ashkenazi Jewish heritage.
“The Bloom Syndrome test itself is a minor step,” said Eline Bunnik, a medical ethicist and researcher at Erasmus University Medical Center in the Netherlands. “The thing is, however, that there are thousands of rare heritable conditions like Bloom Syndrome. Taken together, these conditions are a considerable public health problem.” Bunnik has published frequently about personal genome testing.
The FDA's 23andme announcement states the agency intends to issue a notice to down-classify “carrier screening tests” as class II, the middle-risk category in medical device regulation, and exempt the products from FDA premarket review. Previously, such tests had to undergo premarket review, a process that can take months and incur significant expenses in clinical trials.
It's not entirely clear how broad the exemption will be. The FDA announcement refers to “carrier screening tests” and “autosomal recessive carrier screening tests.”
Broadly, these tests screen individuals' genomes for the presence of recessive genes. If two individuals have a child, and both carry one recessive gene of a potentially serious genetic condition, there's a 25% chance of the child suffering from the condition.
Bradley Merrill Thompson, a lawyer with Epstein Becker Green and an expert in FDA law, called the decision a major one.
Because of some of the imprecision of language in the announcement, however, it's difficult to tell how much impact the decision will have in terms of what tests are exempt, he said. More clarification should come when the agency posts an official notice.
Still, "a few years ago, I would never (have) dreamed FDA would take this action,” Thompson said. The agency had previously fought with 23andme over similar questions, namely whether a direct-to-consumer test could be sold to patients without pre-market approval or clearance.
The main risks of the decision, Bunnik said, revolve around questions about test accuracy and a need for genetic counselors. Patients receiving test results may need counselors to help interpret the results, meaning that if the agency decision expands the number of tests, a commensurate expansion in the number of counselors may be necessary.
23andme was able to convince the FDA of its test's accuracy with a battery of clinical trials, the agency indicated in its announcement. Two studies, with a total of 228 samples, confirmed that the startup can accurately demonstrate the presence of Bloom Syndrome.
Another pair of studies, with more than 600 participants, demonstrated to the agency that users would use 23andme's test properly.
For the firm, the decision is the culmination of a long-running regulatory conflict. The startup and the agency clashed in 2013, after 23andme started a national advertising campaign touting its tests' abilities to detect certain medically sensitive genetic conditions. The agency protested that the startup had not received approval, and therefore was improperly marketing its capabilities.
Because of the protest, 23andme was forced to withdraw its most medically sensitive tests from the market. That withdrawal prompted several protests at the FDA's perceived slowing of innovative products.
Meanwhile, 23andme needed to continue to sell the tests to gather more data. The firm has recently inked deals with large pharmaceutical firms, such as Genentech, who want to rely on the startup's large genomic databases in researching potential drug targets.
The approval, then, is potentially very significant for the firm's fortunes.
Follow Darius Tahir on Twitter: @dariustahir