• by Bruce Carlson
  • March 8 2018


Direct-to-Consumer Diagnostic Testing Has Arrived, With First Cancer Risk Test

Direct-to-Consumer Diagnostic Testing Has Arrived, With First Cancer Risk Test

Even with caveats, and there are caveats, the FDA Approval of 23andMe's BRCA test without Testing Clearly Boosts the $99M Direct-to-Consumer Testing Market The Mountain View, CA-based personal genetics company, announced yesterday that it had received the first-ever FDA authorization for a direct-to-consumer genetic test for cancer risk. That means, no doctor, no prescription. The authorization allows 23andMe to provide customers, without a prescription, information on three genetic variants found on the BRCA1 and BRCA2 genes known to be associated with higher risk for breast, ovarian and prostate cancer.The approval comes with warnings that uphold the primary role of doctor-driven traditional cancer diagnostics.   our latest report, Direct to Consumer Genetic Health Testing, used interviews, annual report findings and economic data to make its analysis, and factored likely future approvals in its analysis.

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The good side is, patients win in terms of having more knowledge about disease, about their DNA, information that could lead to healthcare provision outlays. (like going to the doctor). That doesn't mean it's all upside. There are legit fears about healthcare costs, increased anxiety among consumers, unnecessary healthcare provision, overreaction of payors and lack of healthcare supply (read - waiting rooms). But if we see this as the healthcare system's natural and justifiable concern over costs and outcomes, versus the patient's drive to know, patient knowledge will prevail long-term. It was a matter of time before the patient's right to know did in this case.

It's not even that simple. Knowledge could lead to a consumer not doing something, because they might think the test means 'all clear' when it does not. This from Forbes -


But even the test’s name hints at its limitations. It’s called the BRCA1/BRCA2 (Selected Variants) report, because it only covers three irregularities in the genes that have been associated with cancer. “The test only detects three out of more than 1,000 known BRCA mutations,” the FDA said in announcing the approval. “This means a negative result does not rule out the possibility that an individual carries other BRCA mutations that increase cancer risk.”


The FDA cited a need for greater cancer detection as a key reason for approval.


"This test provides information to certain individuals who may be at increased breast, ovarian, or prostate cancer risk and who might not otherwise get genetic screening, and is a step forward in the availability of DTC genetic tests,” said Donald St. Pierre, acting director of the Office of In Vitro Diagnostics and Radiological Health within FDA's Center for Devices and Radiological Health.

The department is the key regulator of IVD tests. The agency did also state its concern that tests are not the be-all and end-all of detecting cancer risk.

“But it has a lot of caveats,” St. Pierre said. “While the detection of a BRCA mutation on this test does indicate an increased risk, only a small percentage of Americans carry one of these three mutations and most BRCA mutations that increase an individual's risk are not detected by this test. The test should not be used as a substitute for seeing your doctor for cancer screenings or counseling on genetic and lifestyle factors that can increase or decrease cancer risk."

Traditional diagnostics first. Several trends are continuing to shape the direct to consumer laboratory testing market including the growing demand for early disease detection and diagnosis, personalized medicine, importance of disease monitoring and expanded technologies.

There has been a shift in healthcare utilization primarily due to reducing healthcare spending which makes the laboratory an even more valuable part of the treatment plan. With the increased use of the Internet for medical information, consumers have become medical consumers not just patients. This has created a change in the doctor/patient relationship as individuals become more knowledgeable about their own health and want more control over their personal information and treatment decisions. Consumers are more cost-conscious and the increase in high deductible insurance plans requires that individuals ask more questions, do their own research and collaborate with their doctor about medical decisions, tests, and treatments.