Direct-to-consumer gene tests like Ancestry.com and 23andMe are increasingly informing consumers about gene alterations that could signal health risks. But those tests look at only a few positions on particular genes, as opposed to medical sequencing that is much more thorough. And, according to a 2018 study by Ambry Genetics in Genetics in Medicine, these results can be wrong — the study showed that consumer tests for certain variants gave false positives 40 percent of the time and were misinterpreted as higher-risk.

To address this, Ambry has teamed up with digital health company My Gene Counsel to offer counseling and retesting to individuals who have taken a direct-to-consumer genetic test and have a personal or family history of cancer.

My Gene Counsel will provide users of the program with a layperson-friendly report based on the raw data from their direct-to-consumer test. Armed with that report, they can also connect to a genetic counselor on the phone or via video chat. If their counselor recommends it, they can re-test with a medical grade test from Ambry.

In many cases, Ambry VP of Marketing June Fujimoto told MobiHealthNews, the patient’s insurance will pay for the test. While four out of five of the company's patients won't need to pay out of pocket, those who do will pay less than $100 on average. The company also highlighted its Patient Financial Assistance Program as an active effort to reduce cost-related barriers patients may face.

The partnership is something of a test for the companies, and they intend to expand the offering if it goes well.

“I think kind of what we’re doing here is trying to understand what the needs in the market are,” said Stephany Connor, supervisor for reporting cancer at Ambry Genetics. “And I think if this program were successful we would consider expanding it to other types of consumers.”

Why it matters

As direct-to-consumer genetic testing becomes more and more mainstream, it’s important for people to know the limits of the technology — and to have recourse when and if they run up against those.

“We know that direct to consumer genetic testing has become very popular, with estimates showing that 100 million people will have used these at-home genetic tests by the year 2021,” Ellen Matloff, president and CEO of My Gene Counsel, told MobiHealthNews. “And we know that some consumers are getting valuable information from these tests that do test out when they’re confirmed in a medical-grade laboratory. And other people are getting results that when they retest are showing they were false positives. Basically we need to help consumers find a bridge to get them from their direct-to-consumer testing to figuring out if their result has been verified or if we should throw their result out before we act on it in a medical setting. And that’s what this program does.”

It's worth noting that 23andMe responded to the 2018 paper in a letter to the editor of the same journal. They maintained that Ambry's results were cherry-picked and didn't constitute a representative sample, and that their methodology is not necessarily less accurate than full sequencing.

"We are not aware of any peer-reviewed study that has demonstrated the analytical performance of 23andMe health reports to fall outside of FDA-established requirements," 23andMe scientists wrote. "In fact, Tandy-Connor et al. reports that all results for the three BRCA1 and BRCA2 pathogenic Ashkenazi Jewish founder variants, as well as the deltaF508 CFTR variant for cystic fibrosis, were confirmed by clinical testing. While we always recommend confirmatory clinical testing, we would not want individuals or healthcare professionals to ignore or discount clinically relevant, accurate results from 23andMe’s FDA- authorized tests."

What’s the trend

Consumer genomics are on the rise, and while some percentage of companies focus exclusively on ancestry, some of the biggest names like 23andMe and Helix are very much in the health space. Recently, 23andMe launched a test for type 2 diabetes predisposition.

As the services become more prominent, the industry is still coming to terms with questions of patient privacy as well as access to genetic counseling resources.