Multigene Panel Testing for Hereditary Cancer Risk

Historically, an understanding of a patient and/or their family’s cancer risk and predisposition was based in large part on patient pedigree or family history, histology, and age at diagnosis. However, since the completion of the Human Genome Project, advances in technology have moved from pedigree to single-gene testing to multigene testing and next-generation sequencing. Advanced practitioners need to follow developments in genetic testing to interpret results, ensure that their patients/families receive appropriate counseling before and after testing, understand the clinical impact of genetic testing across the trajectory of healthcare, including surveillance, screening, diagnosis, treatment, lifestyle, pharmacogenomics, and new targeted therapies.

Advanced practitioners also need to recognize ethical challenges, limitations, and/or barriers to genetic testing. This article provides an overview of multigene panel testing for hereditary cancer risk and o ers two case examples to highlight the clinical considerations, bene ts, limitations, and insurance challenges encompassed in this new approach to genetic testing.