Invitae to present research on germline multigene panel testing at ASCO meeting
Researchers from Invitae will present data that underscore the clinical utility of comprehensive genetic information for patients with breast, colorectal, prostate and pancreatic cancer to inform treatment decisions. Among the data, researchers will discuss findings showing that multigene germline genetic testing for breast cancer patients impacts patient outcomes and informs surgical strategy, precision medicine treatment and clinical trial eligibility. The studies will be presented at the American Society for Clinical Oncology Annual Meeting. A study of breast cancer patients conducted with researchers from the TME Breast Care Network, a network of more than 300 leading breast cancer physicians, evaluated germline genetic testing for 912 breast cancer patients, approximately half of whom met widely accepted clinical guidelines for testing and half of whom did not. Pathogenic/likely pathogenic germline variants were found in 8.65% of patients. Among patients with P/LP germline variants, 85% had variants in cancer-risk genes with established management recommendations and 80% had variants that made them eligible for clinical trials and/or precision medicine-based cancer treatments, such as PARP inhibitors. In 62% of patients with P/LP germline mutations, their clinicians reported the findings impacted their patients' outcomes. Another study presented at the meeting examined testing in colorectal cancer using multigene panels, and suggests one in five patients referred for genetic testing have clinically actionable germline variants, nearly half of which remain undetected when only a narrowly defined panel of the five mismatch repair genes are tested. Furthermore, some of these variants were in genes associated with known precision therapeutic implications or clinical trial eligibility, as well as established clinical management guidelines.Germline testing was performed on 9,000 patients with colorectal cancer and clinically significant variants were identified in 21% of patients. When only a limited genetic panel was used, 9% of patients had a pathogenic finding, which increased to 15% when 19 guidelines-based colorectal cancer genes were assessed. Using a comprehensive multigene panel, P/LP variants in genes with known precision therapy implications were detected in 14% of patients, and 17% had P/LP variants associated with established clinical management guidelines. These data add to the evidence supporting the value of comprehensive germline genetic testing for colorectal cancer patients to identify candidates for precision medical treatments and provide clinical guidance to at-risk family members.