New Guidelines Advise Against Using Polygenetic Risk Scores for Routine Patient Management

New guidelines from the National Comprehensive Cancer Network (NCCN) advise against using polygenetic risk scores for routine patient management and update previous recommendations for assessing hereditary cancer risk of the breast, ovaries, and pancreas as well as the use of cascade testing. Polygenic Risk Scores Polygenic risk scores reflect a mathematical aggregate of risk conferred by many DNA variants to estimate the likelihood of a specific outcome, such as disease onset in an individual. The scores are the output of statistical models developed using data from large genome-wide association studies (GWAS). Such scores “should not be used for clinical management at this time,” advises the NCCN in the latest version of its clinical practice guidelines, entitled “Genetic/Familial Hight-Risk Assessment: Breast, Ovarian, and Pancreatic” published on Sept. 8. “There are significant limitations in the interpretation of polygenic risk scores,” according to the guidelines, which suggests instead using such scores for clinical trials. Genetic Assessments Associated with Prostate Cancer Risks The NCCN also provides update guidance on when language on when personal and family history of prostate cancer indicates the need for genetic testing for high-penetrance breast and ovarian cancer risk genes, such as BRCA1, BRCA2, CDH1, PALB2, PTEN, and TP53. According […]