Universal genetic testing catches genetic mutations not detected in guideline-based testing
MONDAY, Nov. 9, 2020 (HealthDay News) — 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 online Oct. 30 in JAMA Oncology.
N. Jewel Samadder, M.D., from Mayo Clinic in Phoenix, and colleagues assessed germline genetic alterations among 2,984 patients (mean age, 61.4 years; 53.0 percent 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 percent of patients, including those in 282 moderate- and high-penetrance cancer susceptibility genes. Nearly half of patients had variants of uncertain significance (47.4 percent). Incremental clinically actionable findings that would not have been detected by phenotype or family history-based testing criteria were found in 6.4 percent of patients. Roughly one-quarter of patients (28.2 percent) 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 percent 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,” Samadder said in a statement.
One author disclosed financial ties to the pharmaceutical and biotechnology industries.
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