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The Paradigm Shift in Genetic Counseling for Hereditary Cancer

Abstract In the last few years, PARP inhibitors against Hereditary Breast and Ovarian Cancer (HBOC) and immune checkpoint inhibitors against microsatellite instability (MSI)- high solid tumors have been introduced into clinical practice also in Japan, and treatment for hereditary tumors has been changing significantly. Furthermore, diagnostic tests with Next Generation Sequencing (NGS) which enables cancer genomic medicine have been approved with full coverage under the National Health Insurance recently in Japan. It is clear that cancer treatment in Japan has reached a major turning point. With the development of cancer genomic medicine, germline variants are not found in secondary, but rather have become the first to be identified as therapeutic targets. Henceforth, hereditary tumors will be diagnosed more frequently through cancer genomic medicine in preference to using classical criteria. We have to pay attention to genetic counseling for these patients, because backgrounds are different from classically diagnosed hereditary tumors. In cancer genetics, correct and appropriate evaluation of germline variants is extremely important. In addition, it would be a pivotal role in genetic medicine, to examine the germline reports sufficiently to apply appropriate treatment for patients, and to provide recommended medical management for patient’s family.