Universal multigene panel testing for patients with solid tumor cancer increases detection of heritable variants over the predicted yield of guideline-based testing, according to a study published in JAMA Oncology. Study investigators assessed germline genetic alterations among 2,984 patients (mean age, 61.4; 53.0% male) with solid tumor cancer receiving care at Mayo Clinic cancer centers and a community practice between April 1, 2018, and March 31, 2020. A genetic analysis was conducted using an 80-gene next-generation sequencing platform. The researchers identified pathogenic germline variants (PGVs) in 13.3% of patients, including those in 282 moderate- and high-penetrance cancer susceptibility genes. Nearly one-half of patients had variants of uncertain significance (47.4%). Incremental clinically actionable findings that would not have been detected by phenotype or family history-based testing criteria were found in 6.4% of patients. Roughly one-quarter of patients (28.2%) with a high-penetrance PGV had modifications in their treatment based on the finding. PGV was associated with younger age at diagnosis. Only 17.6% of patients with PGVs had family members undergoing no-cost cascade family variant testing. “More than half of the patients who developed cancer due to inherited mutations were being missed, and that has major implications for family members,” a co-author said in a statement.”
