23andMe Receives FDA Approval for Genetic Tests Despite Few Changes

Labeling, not technology, helped the company bring disease risk assessments to consumers.

Flickr / richard.keen

Spit in the sample collection tube, and throw it in the mail. That’s it. That’s how easy it is to send a sample of your genetic material to direct-to-consumer genetic testing company 23andMe. After a few weeks, 23andMe will send you a report that outlines your probable ancestry. And as of this week, 23andMe has taken its services a couple steps further. Now, your report can also tell you the risk that you’ll get 10 different diseases, including Parkinson’s and late-onset Alzheimer’s. This doesn’t mean that the tests will tell you whether you have a disease or not, but whether you carry particular genetic mutations that put you at higher risk for developing the disease.

On Thursday, the Food and Drug Administration reversed its long-held position on 23andMe, granting the company approval to offer genetic health risk reports. This marks a major shift from a few years ago when the FDA ordered the company to stop offering diagnostic tests to consumers.

This is a big step for the company. But FDA approval doesn’t mean that anything about 23andMe’s testing procedures has improved. It seems that the FDA’s reversal is based less upon 23andMe improving its technical processes and more upon changes the company made to its labeling.

“Our genotyping platform didn’t change,” a spokesperson for 23andMe tells Inverse. What changed was the way the company communicates results to patients.

“Part of the authorization process with the FDA required us to conduct user comprehension studies to demonstrate that average adults in the US of varying education levels can understand the concepts communicated in our reports,” the 23andMe spokesperson says. “We met the FDA’s standards, so they granted us the over the counter designation.”

Until Thursday, the Food and Drug Administration had not allowed 23andMe to provide information on genetic health risk. The company did initially offer the service, but in 2013, the FDA demanded that 23andMe stop until its tests received proper approval. Among its reasons, the FDA cited the possibility of false positives or false negatives that could lead to either receiving unnecessary treatments — and their associated side effects — or totally ignoring a lurking risk.

“For instance, if the BRCA-related risk assessment for breast or ovarian cancer reports a false positive, it could lead a patient to undergo prophylactic surgery, chemoprevention, intensive screening, or other morbidity-inducing actions, while a false negative could result in a failure to recognize an actual risk that may exist,” wrote Alberto Gutierrez, director of FDA’s Office of In Vitro Diagnostic Device Evaluation and Safety. 23andMe says that its tests have greater than 99 percent precision, and while there is always the possibility for false results, this falls within acceptable levels for the FDA.

Another huge concern for the FDA was the danger of customers overreacting to test results that they didn’t fully understand. Genetic testing usually happens under the guidance of a genetic counselor, someone who helps patients understand test results and decide what steps to take after receiving them. 23andMe pretty much bypassed that system when it first offered health risk assessments, which caused concerns for the FDA because patients can have trouble evaluating a risk that’s communicated as a percentage.

So until this week, 23andMe has mostly offered ancestry information, which has proven a boon to amateur genealogists who want to track down relatives at the farthest reaches of their family trees. During that time, the company did also offer limited risk assessments that looked at a patient’s so-called carrier status. This type of test can tell whether a person carries a gene that they could pass on to their child, putting the child at higher risk for diseases such as cystic fibrosis or Bloom syndrome — both carrier tests for which the FDA approved 23andMe in 2015.

In the years following the FDA’s crackdown on the company’s disease risk assessments, people could still receive the information, but they had to be savvy about it. Even though 23andMe wasn’t allowed to offer the assessments to customers, after customers sent in their samples, they could receive their raw data from 23andMe and upload it to sites like Promethease, which could evaluate the customers’ genomes for risks. But with this method, the concerns about customers evaluating their risk assessments without professional guidance loomed large. The recent approval and labeling changes could help prevent unneeded alarm and unnecessary doctor visits caused by this trend.

With the recent FDA approval, 23andMe’s test enjoys the same status as over-the-counter medications. Customers can purchase the service without a prescription and without consulting a doctor. But just like the warning labels on non-prescription drugs, it’s probably a good idea to get a doctor’s opinion if you plan to act on the results of a genetic health risk assessment.

Related Tags