Next-generation sequencing technologies have ushered in the capability to assess multiple genes in parallel for genetic alterations that may contribute to inherited risk for cancers in families. Thus, gene panel testing is now an option in the setting of genetic counseling and testing for cancer risk. This article describes the many gene panel testing options clinically available to assess inherited cancer susceptibility, the potential advantages and challenges associated with various types of panels, clinical scenarios in which gene panels may be particularly useful in cancer risk assessment, and testing and counseling considerations. Given the potential issues for patients and their families, gene panel testing for inherited cancer risk is recommended to be offered in conjunction or consultation with an experienced cancer genetic specialist, such as a certified genetic counselor or geneticist, as an integral part of the testing process.
Michael J. Hall, Andrea D. Forman, Robert Pilarski, Georgia Wiesner and Veda N. Giri
Rishi Jain, Michelle J. Savage, Andrea D. Forman, Reetu Mukherji and Michael J. Hall
Through tumor genomic profiling (TGP), existing and novel treatments can be selected to better target the specific dysregulated molecular pathways that drive growth and spread of a patient's tumor. Although the primary purpose of TGP is to detect targetable somatic mutations for treatment, TGP may also uncover germline mutations with important implications for patients and family members. Oncology care providers should be aware of the hereditary cancer risks associated with genes commonly tested by TGP. Further, patients should be informed about the possible discovery of hereditary cancer risk information and the relevance of this information to their health and that of family members, and should have their preferences toward further evaluation of hereditary risk information that could be revealed by TGP documented in the medical record and followed.