Skepticism is required when covering the science behind genetic tests

Photo: Pia Christensen/AHCJCharles Piller, Paul Raeburn and Christopher Robertson (left to right) discussed the science of genetic testing on the first day of Health Journalism 2018.

Health insurers struggle to understand whether genetic tests give physicians actionable information about how to diagnose and treat patients’ illness. If health insurers struggle, then journalists certainly will as well. For example, see this tip sheet that Beth Daley (@BethBDaley) wrote for AHCJ when she was at the New England Center for Investigative Reporting.

Genetic testing holds immense promise, but as speakers explained during the “Science of Genetic Testing” session at Health Journalism 2018, misuse and misinterpretation of these tests have undercut that promise.

Paul Raeburn (@praeburn), an independent journalist, moderated the presentations of Charles Piller (@cpiller), an award-winning investigative correspondent for Science magazine; and Christopher Robertson, a professor of law and associate dean for research and innovation at the James E. Rogers College of Law at the University of Arizona.

Piller described his work covering concerns that Proove Biosciences of Irvine, Calif., was offering a genetic test with questionable science behind it. At the time, he was West Coast editor for Stat.

Uncertain science is not unusual in genetic testing. “We’re talking about a burgeoning industry with hundreds or thousands of companies that are extremely lightly regulated, and a lot of abuses have taken place,” he said. His work on Proove is a startling case in point, as we covered last year in a blog post and a Q&A with Piller.

When covering the problems with Proove (which eventually filed for bankruptcy that it blamed on his coverage), Piller had four primary concerns. For journalists, each concern should be a reason to pursue similar stories.

The first concern was that Proove claimed its genetic test could predict with 93 percent accuracy whether a patient was likely to become addicted to opioids. “Ninety-three percent is such a high number that it seemed to be worth scratching beneath the surface to see what that meant,” he said.

The second concern was the science behind the test. After reviewing documents on the Proove website, in journals and elsewhere, he had more questions than answers.

His third concern was the lack of regulation for such testing. In 2014, the FDA proposed to regulate lab-developed tests, such as Proove’s test for addiction risk. In November 2016, FDA paused its plan to regulate LDTs. As a result, when a company offers a lab-developed test, the FDA does not analyze the lab’s claims for efficacy, Piller explained.

“The FDA simply certifies that the labs are testing what they say they’re testing for,” he said. “If a lab says it’s testing for certain gene variations, the FDA seeks to make sure that the lab is able to do that.” In Proove’s case, the FDA did not try to determine whether its larger claims about the test’s predictive value were valid.

Piller also interviewed experts who noted that in addition to the genetic elements of addiction, there are social, cultural and environmental factors physicians must consider as well. While the Proove test looked for 12 different genetic variations, it would miss the hundreds of genetic variances associated with the tendency toward addictive behavior, he said.

A fourth concern emerged when Piller learned that Proove was running what essentially was a “pay-to-play” clinical trial program for the test. Proove had become one of the nation’s fastest-growing companies but its chief source of revenue was income that patients and their insurers paid for Proove to run its clinical trial.

Companies that conduct experiments on humans must register at On the site, Proove said that it was running an observational trial, meaning there was no control group. Also, it had 50,000 participants, a total higher than more than 99 percent all clinical trials ever done. “It’s enormously expensive to run a clinical trial with that many participants,” he explained. “With a legitimate trial, the participants don’t pay. The company sponsoring the trial pays to assess a drug, a test or a device that they hope to offer for sale to the public. These companies bear the expense of the people who are the subjects of the trial.

“So, we had a high-level of predictive accuracy, not well-founded science, lightly regulated lab-developed tests and a pay-to-play clinical trial” – all red flags, he said. Pillar interviewed doctors who ordered the test for their patients and were unsatisfied with the results, which often contained contradictions that made their conclusions impossible to interpret. “They said the tests didn’t tell them much about their patients,” he said.

Robertson in his comments advised journalists to keep in mind that physicians have an important role in helping patients “distinguish useful science from junk science.” Physicians who take payments from drug companies, labs, or device makers may have committed fraud by in effect accepting kickbacks from those companies for using these drugs, tests, or devices, he said. Journalists can search for payments physicians receive from these and other companies on the federal open payments site.

Robertson also noted that the FDA has loosened its regulations on tests involving genetic-health risks (GHR). For example, last month the FDA authorized the first direct-to-consumer test to report on three specific breast cancer gene mutations. Last year, the FDA allowed 23andMe to market its GHR tests for 10 diseases or conditions and said it intended to allow tests that assess a patient’s GHR to be exempt from premarket review under certain conditions.

You can read discussion of and tips from the conference session on Twitter at #AHCJgenetic.

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