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Can We Design A More Protective Approach To Genetic Testing?

Popular genetic testing site 23andme has come under fire from the government and pundits for the way it handles its genetic testing. Other testing services offer an alternative.

Can We Design A More Protective Approach To Genetic Testing?
[Image via Shutterstock]

Genetic testing company 23andMe has had many defenders in the last week after the FDA demanded that the company stop marketing its direct-to-consumer test kit. While the manner in which the FDA can or should regulate 23andMe and similar firms is still under debate, the dust-up raises some important questions about the implications of genetic testing.

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23andMe is running a long-game business that demands the scaling and selling of many tests: Like one of its investors, Google, the company’s plan is to make money by repackaging and reselling large, anonymized data sets–in this case, for medical and research insights. As the saying goes, its customers are the product. (Read Fast Company‘s November cover feature on 23andMe for more.)

At times, however, it also provides customers with life-changing medical results online, without an accompanying personal review from a doctor or genetics experts. At other times, it offers customers ambiguous knowledge that they have a slightly elevated risk for a serious disease–advice that is hard to act upon, even with the counsel of a doctor, but is still very easy to worry about.

“Their main focus isn’t selling clients the best genetic tests. Their main business model is making money from their customers’ data. They don’t care about the $99 coming in from the customer side,” says Peter Schols, CEO of a rival genetics testing firm Gentle Labs.

“It’s a valid business model. … But they are saying [their test] is for educational and entertainment purposes, where at the same time they are testing for breast cancer and Alzheimer’s disease risk. You cannot claim that it’s for fun and then do breast cancer screening. I think you have to choose,” he says.

Schols obviously has some skin in the game, but his company’s model is an interesting point of contrast. Gentle, based in Belgium but available around the world, is now offering a consumer genetics test that first went on sale two weeks ago and can be ordered online.

By reading the entire genetic code rather than only certain markers, the company screens for five times more genetic conditions (1,700 versus 260), while at the same time only including screenings that the company has decided are clearly “actionable.” The results are then communicated to the consumer either through a medical geneticist contracted by Gentle, or if the customer prefers, the geneticist can schedule the call with his or her own doctor instead (Schols says that Gentle believes this setup puts it firmly out of the FDA’s jurisdiction).

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For example, Gentle does screen for the BRCA mutations. If someone has these mutations, their risk of breast cancer is greatly increased. But unlike 23andMe, it does not screen for lupus, a “multi-factorial” condition for which the genetic risk is poorly understood. “My wife ordered 23andMe and was told she had a decreased risk of lupus,” says Schols. “But she actually got lupus. That’s one of the reasons we are not doing this kind of testing. It’s of no value for your customers.”

Gentle is one of the few consumer-focused companies that uses a technique called whole exome sequencing, which scans the entire genetic code and is more expensive than 23andme’s $99 technique: Though costs are coming down, the Gentle test costs $1,950. However, Schols points out that this technique catches all the markers for a disease, not just some of them.

With the DNA microarray chip technologies that 23andMe and most other firms use, for some ethnicities at least, only screens for about half of the markers for a highly predictable genetic diseases like cystic fibrosis. That means a 23andMe test that is negative for cystic fibrosis is not always a guarantee a person is not at risk, Schols says.

This whole exome method means the Gentle test offers the “clinical-grade” conclusions–the same that come from disease-specific tests ordered by hospitals. For a few hundred dollars more than single disease tests often cost today, Gentle can throw in the results of not just one disease but hundreds. Gentle adds additional value by screening for genetic markers that indicate adverse reactions to specific drugs, such as the blood thinner warfarin (23andme also offers these screenings).

At first, Gentle will market to populations of people who already know they have higher genetic risks. But because of the general preventative value its information could offer (three babies are born with cystic fibrosis every day in the U.S.), “we believe that, even at this price, it would be cost-effective to sequence every American,” says Schols, who is currently working to convince insurance carriers to cover the test. (Rival genetics testing firms, like Counsyl, that offer health-focused results through a doctor are already covered by some U.S. insurers, he notes.)

For an individual, $1,950 is a lot more than 23andMe’s $99 price point. And the decision to get genetics testing is a personal one–many of these companies argue that people have the right to know their genetic code and the FDA and other regulators shouldn’t stop that flow of information. Some people may really be doing it just for fun and entertainment.

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But as someone who is wary of the personal and psychological implications of genetics testing, the discussion over 23andMe in the last week–including this report on Quartz of someone who received a wrong “diagnosis” from the firm–has convinced me I’m not ready to know that information. For people like me, the idea of Gentle’s more protective approach and comprehensive technology could be more comforting. Despite Schols’s offer to send me a kit to review the service, I won’t be doing any testing yet.

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About the author

Jessica Leber is a staff editor and writer for Fast Company's Co.Exist. Previously, she was a business reporter for MIT’s Technology Review and an environmental reporter at ClimateWire

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