Present issues regarding BRCA genetic testing and genetic counseling in medical care for HBOC patients in Japan

Abstract

One of 400 to 500 general people has a germ-line pathogenic variant in BRCA 1 or 2, and those with such variants are diagnosed as HBOC. Since women with HBOC have extremely high risk of breast and ovarian cancer, they need to take action to avoid death due to those cancers. But how can we find them? We should screen suspicious people by their personal and family histories. We most frequently use NCCN guidelines to find them. They recommend BRCA genetic testing for all patients with personal history of ovarian, male breast, pancreatic or metastatic prostate cancer, and breast cancer patients with young onset, and/or family history of breast, ovarian, prostate, and/or pancreatic cancer. And after the approval of Olaparib for breast cancer, all HER2 negative metastatic breast cancer patients have become candidates for the BRCA genetic testing to check if Olaparib is usable or not. If we consider patients' ages of breast cancer diagnosis and/or family histories of cancers mentioned above, the positive rate will be high, but if we do the testing for all HER2 negative metastatic breast cancer patients, it will be around 5%. Genetic counseling is quite important to do the BRCA genetic testing in suspicious people and recommend women with HBOC to take cancer surveillance and/or risk-reducing surgery. For now, we have a big problem in genetic counseling in most Japanese hospitals. Specialists in genetics, especially genetic counselors, are expected to play an important role in genetic counseling. But there are only 243 certified genetic counselors in Japan. This number is not only small, but the majority of them are not good at hereditary cancers. Physicians and surgeons are also required to do genetic counseling in medical care of HBOC. To improve their knowledge and skills that are required in performing genetic counseling of hereditary cancer syndromes including HBOC, educational workshops have been held by several societies. I will present them briefly.