FDA Green Light Inches Genetic Screening Forward

The FDA recently granted authorization for the first multi-gene test for assessing hereditary cancer risk, marking a significant advancement in genetic screening capabilities. Developed by Invitae Corporation, the Invitae Common Hereditary Cancers Panel analyzes variants in 47 genes associated with increased cancer risk. Using next-generation sequencing on DNA from blood samples, the test looks at BRCA1 and BRCA2 variants linked to breast and ovarian cancer, as well as other cancer-related genes. 

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The FDA’s approval provides a regulatory framework giving labs a clearer roadmap for developing similar multi-gene panels. With an authorized model in place, labs can proceed more confidently in navigating FDA submissions. Specifically, the de novo classification created for Invitae’s test allows future lab-developed panels to gain regulatory clearance through the expedited 510(k) pathway by demonstrating substantial equivalence. This streamlined validation process can help labs conserve time and resources compared to pursuing de novo approval without an existing benchmark. While analytical and clinical validation studies are still required, labs can now follow Invitae’s lead in collecting performance data for FDA review. This regulatory clarity enables more labs to consider commercializing comprehensive hereditary cancer panels.

However, FDA approval alone does not guarantee payer coverage, particularly from the Medicare program. Currently, Medicare coverage is restricted for screening tests that do not directly inform clinical decision-making. Screening is intended for asymptomatic individuals, so Medicare requires evidence that early detection improves concrete health outcomes. Historically, coverage has only been granted for nationally recommended cancer screenings like mammograms. Medicare typically does not cover broad screening without signs, symptoms, or diagnosis. 

While identifying cancer risk variants can guide preventative measures, most multi-gene panels go beyond variants tied to specific screening recommendations. Medicare sees limited utility and value in testing for uncertain or unactionable results. However, this FDA authorization provides a precedent for appropriate screening utility that Medicare could recognize. If multi-gene panels can be shown to enable risk-aligned clinical surveillance and prevention strategies, Medicare may expand future coverage. But labs likely face an uphill battle convincing Medicare that broad hereditary cancer screening merits departure from prudent coverage limitations, unless backed by compelling utility evidence tied to clear clinical recommendations.

That said, this authorization supports the use of genetic screening as a guide to early cancer detection, a precedent that could illuminate a pathway to broader coverage of appropriate screening tests in the future. As multi-cancer blood screening tests emerge, this regulatory pathway can aid their pursuit of payer coverage. But legislative changes to screening criteria and CMS payment structures may be required first.

The affordability of population cancer screening also needs addressing. Invitae’s panel costs over $2,500, raising concerns around access barriers. Private payers may continue to follow Medicare’s lead and restrict covered screening panels, prompting questions about access and affordability despite this FDA approval. Even as pricing may decline with increased market competition, insurance coverage will remain necessary for most patients. Test makers must be prepared to justify their assay’s costs and value along with demonstrating utility and validity. Unless affordability challenges are addressed, disparities could worsen if multi-gene testing remains out of financial reach for many.

Gaining Medicare coverage still depends partly on clinical guidelines endorsing broader panel testing and improved patient outcomes. This approval alone does not dictate Medicare policy but gives labs a foundation to make their case through rigorous utility studies. While difficult, expanding Medicare coverage is now bolstered by an authorized test as a model.

In summary, while the FDA's approval of the Invitae multi-gene cancer panel is a notable development, many open questions remain regarding clinical implementation and real-world impact. Additional evidence will be needed to demonstrate the clinical utility of broad hereditary cancer screening and justify expanded coverage by payers like Medicare. Clinical practice guideline recommendations, appropriate patient selection criteria, counseling requirements, and cost-effectiveness data must be established before wide adoption occurs. Laboratories will also need to carefully validate their own offerings. While this authorization provides a regulatory pathway for similar tests, it does not immediately solve issues around clinical integration and equitable access. Considerable work remains to clarify optimal use cases, coverage policies, oversight mechanisms, and long-term impacts on population health. However, this FDA action represents an early milestone in the evolution of hereditary cancer testing that could ultimately help enable more personalized risk assessment and precision screening, if remaining challenges are thoughtfully addressed.