Startup's Direct-to-Consumer Genetic Test Receives FDA Attention

In a letter to Pathway Genomics, the FDA has expressed interest in discussing the company's validation strategy as well as evaluating data on clinical sensitivity and specificity of the CancerIntercept Detect test.

Pathway Genomics, a company that has been in the personalized medicine business for about 7 years now, has gained the FDA’s attention for their direct-to-consumer (DTC) cancer screening test in high-risk individuals. According to the FDA, the company’s product, CancerIntercept Detect, has not undergone regulatory clearance as a “device” and could harm public health.

CancerIntercept Detect, the company’s website says, has been developed for individuals who are at risk for known hereditary cancer, have a family history of cancer, whose lifestyle choices may increase their risk for cancer, or who may have had environmental exposure to cancer causing agents. The company does claim to have a College of American Pathologists (CAP) and Clinical Laboratory Improvement Amendments (CLIA) accreditation.

In a letter to Pathway Genomics’ CEO Jim Plante, the FDA states that under the DTC model, Pathway is shipping blood collection tubes—classified as a medical device—for use with CancerIntercept Detect, without having submitted the tubes for FDA approval, clearance, or listing. The letter also cites the lack of clinical validation for this particular test as a screening tool for early detection of cancer in high-risk individuals. The letter goes on to state that the FDA would like to discuss with the company their validation strategy as well as evaluate data on clinical sensitivity and specificity of the test.

This is not the first time that the company has received push-back from the FDA. Back in 2010, a similar letter was sent to the company demanding justification for why their spit kit, which they had planned to market in collaboration with Walgreens, had not been FDA approved.

The DTC genetic testing industry has experienced a lot of turbulence—23andMe Inc being a prime example. In 2013, the company was prevented by the FDA from selling tests that detect disease risks, but early this year, 23andMe’s DTC test to screen for carriers of Bloom Syndrome was granted clearance. “The FDA believes that in many circumstances it is not necessary for consumers to go through a licensed practitioner to have direct access to their personal genetic information. Today’s authorization and accompanying classification, along with FDA’s intent to exempt these devices from FDA premarket review, supports innovation and will ultimately benefit consumers,” the FDA had said at the time.