At-Home Cancer Detection Kit Under Scrutiny by FDA

The US Food and Drug Administration (FDA) for a second time is contacting Pathway Genomics, Inc., about making marketing claims that have not been validated and for selling unapproved test kits. On September 21, 2015, The FDA sent a letter to the San Diego-based company stating that it is offering a high-risk test that has not received adequate clinical validation and may harm the public health.

Pathway Genomics currently markets CancerIntercept™ Detect, which is a noninvasive blood test intended for use as a screening tool for the early cancer detection. Reportedly, it can detect up to 10 different cancer types in high-risk populations with a retail price of $299 to $699.

The FDA writes that after reviewing the information presented on the company’s website in the white paper, entitled “Liquid Biopsy for the Detection and Monitoring of Cancer: Analysis of 96 Hotspot Mutations via Plasma Derived Circulating Tumor DNA,” dated September 2015, that it is unclear how it is able support such claims. It writes that the data on the presence of circulating tumor DNA (ctDNA) in already-diagnosed patients is not sufficient enough to support the expansive claims of screening for early cancer detection using ctDNA in undiagnosed patients for up to 10 different cancers.

Today, there is a growing concern about at-home tests for cancer risk and what harms they may cause.

CancerIntercept™ Detect reportedly analyzes 96 different somatic mutations that occur in nine specific cancer driver genes: BRAF, CTNNB1, EGFR, FOXL2, GNAS, KRAS, NRAS, PIK3CA, and TP53. The kit, according to the company’s website, is appropriate for individuals who have not been diagnosed with cancer, but have been identified to be at an increased risk of one or more specific cancer types, including colorectal, breast, lung, ovarian cancers, melanoma, and possibly other cancer types.

This is the second time that Pathway Genomics has been put on notice by the FDA. On May 10, 2010, the FDA sent a letter to the company stating that it was marketing a home-use saliva collection kit without FDA approval. The test kit was marketed for use in more than 70 health conditions, including pharmacogenetics, propensity for complex disease, and carrier status.

The FDA states that this home-use saliva collection kit “is intended to report customary and personal genetic health disposition results for more than 70 health conditions, including pharmacogenetics (prescription medication response), propensity for complex disease, and carrier status (pre-pregnancy health) information from which one can modify their health regime to live a healthier, longer life.”  Yet, it had never been cleared by the FDA for marketing.

On September 24, 2015, the company issued a statement stating that it respects and shares the FDA’s concerns about patient safety.  It also addressed the concern that its current test is a direct-to-consumer medical device and there is not adequate physician oversight. “We are carefully considering the concerns of the FDA as stated in their letter, and we will be responding to that letter. We assure that there is physician involvement in the ordering, review and follow-up of CancerIntercept™ testing,” stated the company in its press release.