The FDA has granted 23andMe permission to offer carrier testing for a rare disorder known as Bloom syndrome, which is characterised by short stature, sun-sensitive skin changes and an increased risk of cancer. The condition is more common in Ashkenazi Jewish populations where it is believed that 1 in 100 people carry the genetic alteration for the autosomal recessive condition.
23andMe previously marketed a Personal Genome Service in the USA but it ceased providing direct health information to consumers after the FDA told the company to stop selling the product until it received market approval. In a letter, the FDA said the company had failed to assure their tests were accurate, reliable and clinically meaningful.
The new test, which will detect whether a person carries a copy of the BLM(Ash) variant in the BLM gene, is the first direct-to-consumer carrier test to be approved in the USA.
'This is a major milestone for our company and for consumers who want direct access to genetic testing,' Anne Wojcicki, 23andMe CEO and co-founder, said. '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. This important first step would not have been possible without the hard work and guidance of the FDA.'
Dr Alberto Gutierrez, of the FDA's Center for Devices and Radiological Health, said: '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 authorisation 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 added.
As well as authorising the Bloom syndrome carrier test, the FDA is now also classifying autosomal recessive carrier screening tests as class II with the intention of exempting such carrier tests from FDA premarket review, allowing such tests to enter the market more easily. Carrier testing is performed on people who have no symptoms of a genetic condition but may be at risk of passing it on to their children.
To gain approval of its Bloom syndrome test, 23andMe conducted two separate studies to demonstrate that the test is accurate in detecting the genetic alteration for the condition.
The test for Bloom syndrome carrier status will not be available immediately but, when it is, the FDA has requested that 23andMe explains to consumers the results might mean for prospective parents interested in seeing if they carry a genetic disorder. The regulatory body also requires 23andMe to provide information to its consumers about how to obtain access to a clinical molecular geneticist to assist with pre- and post-test counselling.