Hereditary factors are known to play a significant role in developing cancer of various types. Studies have suggested that the identification of germline predisposition could have major implications for the screening, interventions, and treatment decisions. This study aims to assess the prevalence of pathogenic germline variants (PGVs) in patients using a universal genetic vs. a guideline-directed targeted testing approach.
This multicenter, prospective, cohort study included a total of 2,984 patients with solid tumor cancer receiving care. The patients were exposed to germline sequencing using a greater than 80-gene next-generation sequencing platform. The primary outcome of the study was the proportion of PGVs detected with the two used testing procedures.
The researchers discovered pathogenic germline variants in 397 patients (13.3%), which included 282 patients with moderate-high-penetrance cancer susceptibility. There were 1,415 patients (47.4%) with variants of uncertain significance. Besides, a total of 192 patients (6.4%) had clinically actionable findings not detected by phenotype or family history-based testing criteria. In patients with high-penetrance PGV, 42 patients had treatment modifications. The presence of PGV was found to be associated with younger age only.
The research concluded that universal multigene panel testing in patients with solid tumors was correlated with improved detection of heritable variants.
Ref: https://jamanetwork.com/journals/jamaoncology/fullarticle/2772576
