Testing Positive on a Multigene Panel Does Not Suffice to Determine Disease Risks

Historically, cancer genetic testing has been limited to single-gene testing in families who fulfill susceptibility syndrome criteria. Today, next-generation sequencing-based multigene panel tests are commonly used when the syndrome is unclear, multiple genes might explain the phenotype, or when single-gene testing fails to detect a pathogenic germline mutation (1). Panel prices have plummeted, and families with minimal cancer family history in the syndromic spectrum of the mutated gene are currently being tested. However, the penetrance of strongly pathogenic germline mutations varies dramatically by testing indication, family history pattern, and other risk factors. This underappreciated fact will require a paradigm shift regarding how clinicians counsel patients about disease risks implied by mutations found on multigene panel testing.

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