Panel to Address State of the DTC Genetic Testing Industry

Graduate Division

The letter arrived in November. It was a cease-and-desist from the United States Food and Drug Administration (FDA) addressed to CEO Anne Wojcicki:

“Since July of 2009, we have been diligently working to help you comply with regulatory requirements regarding safety and effectiveness … You have not worked with us. Therefore, [you] must immediately discontinue marketing the [genetic testing kit] until such time as it receives FDA marketing authorization…”

For only $99, Wojcicki’s company, the Mountain View, California-based 23andMe, sells a kit which—until November— allowed customers to have DNA in their saliva tested for common genetic variants related to over 240 health conditions and traits. The traits range from the inane—earwax type or reading ability, for example—to the grave, such as risk of developing Parkinson’s disease or Alzheimer’s.  Though 23andMe continues to sell their kit, they now provide only non-health related interpretations of customers’ raw genetic data, which is primarily ancestry information.

The FDA had long resisted regulating the direct-to-consumer genetics industry, so why did they reverse that decision now? And what is at stake for consumers, the industry and life sciences research?

To learn more about the state of the DTC genetic testing industry, and discuss the FDA’s decision to impose sanctions on 23andMe, the Bay Area chapter of Oxbridge Biotech Roundtable will host a debate on the topic this April 7, at the UCSF Mission Bay campus.

Speaking will be Andro Hsu, director of Product Marketing at Syapse, Inc.; Gianfranco de Feo, VP of Marketing, Bina Technologies; Patricia Zettler, fellow at the Stanford Law School Center for Law and the Biosciences; and Paul Billings, CMO of Life Technologies Corporation. Visit for free registration and more information.

What’s the worst that could happen?

The FDA’s decision to begin regulating DTC personal genomic testing is grounded, quite reasonably, in consumer protection. Previously, the stakes were lower. Unlike tests developed for use in clinics and hospitals, these tests were produced and sold directly to consumers by a single laboratory. In most cases, they were very expensive and relatively few people bought in.

However, advances in technology have brought costs significantly lower and within reach of millions. Last year, 23andMe aggressively marketed their kit as a healthcare management tool which could inform customers of their genetic risk for disease, carrier status and potential drug responsiveness.  

Erring on the side of precaution, the FDA justified their decision given concerns that consumers would use (or misuse) the test results to make extreme medical decisions without consulting their doctor. They feared that 23andMe could be overstating the connection between genetic risk and actual disease in some cases, and that customers would conflate these results with medical diagnostic tests.

This scenario seemed especially plausible following Angelina Jolie’s headline-grabbing elective double-mastectomy last May, which she chose to undertake upon learning that she carried a pathogenic variant of the BRCA1 gene.

In practice, however, consumers of DTC genetic testing are not running to go under the knife. In a recent letter published in Nature, authors Green and Farahany argue that the FDA was overly cautious to throttle 23andMe without clear evidence of harm. They cite survey data collected by themselves and others from the last five years among consumers of DTC genetic testing.

While critics of consumer genetics argue that learning one’s potential disease risk could cause undue worry or harm, the authors found that, on average, customers were actually slightly less anxious than their baseline immediately after receiving their test results, and never showed elevated anxiety over the following year.

In the same cohort of over a thousand people, 42percent reported making positive changes in their health behavior after receiving their test results. Of these, 72 percent made changes to their diet, 61 percent changed their exercise habits, and 38 percent altered their use of supplements. Only 1 percent of all study participants made any changes to their prescription treatment without first consulting their doctor. 

The authors stress that more research is needed to know for sure the outcomes of consumer genetics testing, especially since early adopters of the technology may not be the most representative population. Stunting consumer genetics now, however, will make these studies more difficult to carry out.

In another commentary published in the North Carolina Medical Journal in 2013, authors Adams, Evans and Aylsworth conclude that DTC genetic testing, while perhaps not hurting anybody, is probably not helping anyone either.  Citing their own and other’s data from studies conducted in 2008 and 2010, they found variability between the relative disease risks reported by different consumer genetics companies, lessening the usefulness of these data in informing clinical decisions by customers’ doctors. In many cases, the authors say, the same or better risk information can be determined by collecting good medical and family histories from patients.

Crowdsourcing genetics

Individual patient utility aside, proponents of DTC genetic testing argue that the real value comes from aggregate data of all testing customers. In a sense, 23andMe is in the business of selling kits as much as Google is in the business of providing a free search engine or email. An apt comparison, given that Sergey Brin—Google co-founder— was an early investor in 23andMe. In an interview with the magazine Fast Company, 23andMe board member Patrick Chung said:

“The long game here is not to make money selling kits, although the kits are essential to get the base level data. Once you have the data, [23andMe] does actually become the Google of personalized health care.”

Genetic data gathered on such a large scale could become invaluable to researchers in the pharmacy industry, government and academia. Though Wojcicki is far from her goal of signing up 25 million customers, 23andMe’s data set is already starting to bear fruit. In a 2014 paper published in the Journal of Allergy and Clinical Immunology, Australian researchers at the QIMR Berghofer Medical Research used data collected from over 15,000 23andMe customers to identify 11 independent genetic markers associated with asthma with hay fever—something no previous genetics study had been able to do.

Proponents of deregulating consumer genetics argue that, until shown otherwise, the potential benefits of the technology far outweigh the potential risks. In an interview with author Stephen Dubner, internet scholar Clay Shirky discusses the problems with over-regulating nascent technology:

“It’s impossible to imagine what the second order effects of the technology would be… Trying to guess what a technology will do when regulating in advance is … almost the surest way to guarantee, just by the way the regulation would be structured, that you miss out on opportunities.”

By the same token, consumer genetics could have enormous impacts, in aggregate, which would be missed by stunting the industry now. Of course, all this can’t come at the cost of exposing customers to harm, which is the FDA’s primary concern.