Wendy K. Chung, MD, PhD
Order online. Spit in a cup. Learn how your genes affect your risk for hundreds of diseases including cancer.
When companies began offering such genetic testing directly to consumers more than a decade ago, they promised to spark a revolution in healthcare, not only by using new technology to make vital genetic information affordable but also by letting patients obtain that information without asking permission from doctors or insurers. Instead, they sparked controversy and drew scrutiny from regulators, which led the industry to abandon its original business plans. Now, changes are brewing again in the direct-to-consumer (DTC) genetic testing industry including developments with the potential to affect the public in the oncology field.
In February 2015, 23andMe became the first company to gain FDA clearance to market a DTC genetic test when the agency approved its saliva test for screening adults of reproductive age for Bloom syndrome, a rare disorder characterized by short stature, skin rash after sun exposure, and an increased risk of cancer.1
In the fall, however, the FDA cracked down in another area—DTC pharmacogenomics testing. The agency sent letters to seven companies questioning recently introduced DTC genetic test products involving cancers and other diseases.2
Although one of the tests involved cancer hereditary risk assessment, the products included pharmacogenomics tests from four companies that purport to predict whether a person will respond to tamoxifen based on a genomic analysis of a cheek swab; one company’s testing also covers predictive responses to cyclophosphamide, docetaxel, and vincristine.
Over the years, the FDA’s oversight efforts of the DTC genetic testing industry have prompted debate over whether the agency has overstepped its authority and whether its actions would stifle innovation and ultimately harm patients. Others believe the current environment balances the need for innovation with the need to ensure that medical tests are accurate and useful.
Overall, observers say the consumer-focused testing industry of this new era is smaller and less ambitious than it once was. Only a handful of companies occupy the genetic risk prediction space, and none of them offer the sort of all-disease risk tests that were once common. It is, moreover, impossible to say how many risk prediction tests these companies perform because the privately held firms do not reveal sales figures. Regulators and researchers interviewed for this story wouldn’t even speculate about whether total test numbers have increased or decreased in the past few years.
In some quarters, the industry’s evolution is designed to assuage the concerns of its initial critics and stay on the right side of the government. Its leading companies use next-generation tests that they say virtually eliminate false negatives and false positives, and most require that doctors order tests for patients. They also tend to test only for genes with well-established risks that patients can actively address—a policy that leads to a heavy focus on the cancer-related mutations that have been the focus of so much recent research.
“Direct-to-consumer testing businesses are continuously walking on a fine line, trying to find where the boundaries are,” said Jennifer Wagner, JD, PhD, associate director of Bioethics Research at Geisinger Health System, based primarily in Pennsylvania. “The FDA has tried to regulate DTC genetic tests by interpreting them as ‘medical devices,’ which is a quite a stretch, legally... From a technical standpoint, it has not forbidden DTC testing, but from a practical standpoint, it has scared many companies away from that business model.”
DTC genetic tests first hit the market more than a decade ago as technologies to analyze the human genome advanced. They remained a niche item, however, until November of 2007, when the publicly traded company deCODE Genetics and the Google-backed startup 23andMe began selling tests. Navigenics followed soon afterward. These high-profile companies attracted widespread media coverage that introduced the “spit kit” concept to the American public and brought a few more competitors into the market.
Most companies offered a similar product. They charged fees that generally ranged, at first, from $1000 to $2000 to search each saliva sample for thousands of single nucleotide polymorphisms (SNPs) that had been linked (often tenuously) to some trait. Then, they used what they found to tell customers about everything from where their ancestors lived to what foods they should consider avoiding. Reports from the companies also told customers how their SNPs affected their risk for dozens or hundreds of different diseases.