Genetic testing, without leaving your home

On Oct. 27, the FDA announced it would not require direct-to-consumer genetic tests to be reviewed by the agency before reaching the public. Manufacturers still would need to conduct safety and effectiveness testing and have that information available upon the FDA’s request.

But manufacturers can bypass months of regulatory red tape by not having to get FDA clearance before selling their products.

The decision is good news for 23andMe, a California tech startup that received clearance in February to sell its genetic tests to consumers. The company already offered DNA testing for ancestry information, similar to the website Ancestry.com.

Now the company is offering the first FDA-approved genetic test for 36 carrier status conditions. A carrier status test is performed on people who display no symptoms of an inherited disease but may be at risk of passing it on to their children if they are a carrier, the FDA said in a Federal Register notice Oct. 27.

For instance, the test could screen for whether a person is a carrier of sickle cell anemia or cystic fibrosis.

Here is how it works. A consumer pays 23andMe $199 and the company sends a kit that has a vial and some solution in it. The person spits in the vial, shakes it up and sends it back to 23andMe, which tests the sample and sends back the results online, said Angela Calman, vice president of communications.

The company also can test for whether a person has a higher risk of being lactose intolerant, Calman said.

The regulatory notice means that 23andMe doesn’t need FDA clearance for additional carrier status screening genetic tests, nor do competitors that want to offer similar consumer genetic tests.

The agency wants to make it easier because the tests have little chance of false positives, according to the Federal Register notice.

However, manufacturers have to include special controls to help limit the chances of a false positive.

One control is performance specifications that all tests must meet. Even though the FDA won’t review those specifications before a test reaches the market, the agency can inspect them at any time if it has cause, such as consumer complaints.

The labeling also must include a statement that says the test does not or may not detect all genetic variants.

23andMe has had a rocky road. About two years ago, the startup received a warning from the agency for selling its consumer health reports, which the agency considered a medical device. The agency was also worried about the accuracy of the tests, which at the time also screened for cancer risk.

“We spent a lot of time working with the FDA to try to figure out what the path forward was for our consumer genetic testing,” Colman said.

What helped the company is an emphasis on consumer testing, Colman said. The FDA was alarmed that consumers may be confused about how to do the test and may misinterpret the results.

“We did a lot of user testing,” Colman said.

But some people are skeptical about the use of a gigantic database of genetic information that 23andMe plans to develop.

“The Personal Genome Service isn’t primarily intended to be a medical device,” wrote journalist Charles Seife in Scientific American in 2013. “It is a mechanism meant to be a front end for a massive information-gathering operation against an unwitting public.”

Genetics in medicine is a growing field at which researchers have increasingly looked.

“It is still relatively early days, believe it or not, for genetics,” Colman said.

The National Institutes of Health is holding a precision medicine initiative to develop more targeted treatments for diseases such as cancer. For example, doctors are studying how to use tissue from a tumor to tailor a patient’s treatment.

The FDA proposal still needs to be finalized and is open for public comment until Nov. 27.