Since the isolation of the RB1 gene in 1986, a number of genes responsible for familial cancer were identified with advanced technology in molecular genetics, which provided genetic diagnostic approach to the carriers of mutations in each familial cancer. Since 2001, an official guideline for ethical issues of the research on human genome and genetic analyses in Japan was determined by 3 relevant Ministries, including MEXT, MHLW and METI, and a practical guideline for genetic test were provided by 10 relevant academic societies, and then the Japan's National Liaison Council for Clinical Sections of Medical Genetics was established. At present, totally 78 clinical sections of medical genetics are available in Japan. In 2008, genetic test for 13 hereditary diseases and corresponding genetic counseling were officially approved to be included into the health insurance system in Japan. However, no familial cancer was included in this list. In addition, concerns about the necessity of a clinical section of medical genetics as an independent section is still raised in several hospitals. An independence of genetic counselors in each hospital is also difficult to be established at present. Continuous education of medical genetics, including the heredity and the diversity of human, to the medical and co-medical staffs, as well as to a general population, including clients, is definitely required to achieve a high quality of genetic counseling. Overcome of these issues, in addition to the improvement of the prognosis, diagnosis and treatment of each cancer, would be essential to establish a better practice of medical genetics in Japan.
According to a survey about “The study for diagnosis and treatment of VHL disease” made by grants for research project to overcome intractable diseases from Ministry of Health, Labor and Welfare in 2009, VHL disease patients live all over Japan. Due to multiple operations, decrease of QOL is seen in them. Therefore, it is considered that treatments that save their functions are necessary. The patients’ association of VHL disease is doing activities, but VHL disease is not designated as an intractable disease and that is making patients’ financial burden heavy. Patients are having difficulties in finding jobs or taking out life insurance policies and so forth because of discriminations against their genetic information. Also, they are having deep worries about marriages and inheritance to children. To reduce their stresses, many genetic counselors who are not M.D. physicians are needed. As a study project to overcome intractable diseases, a team of doctors, including neurological surgeons, ophthalmologists, gastroenterology physicians and urologists, are taking counsel together in making a guideline to diagnose, treat and follow up. It is desired to establish a system for VHL disease as early as possible by making hub hospitals all over the nation where all diagnoses （including genetic testing） and treatments can be done.
It is difficult to assess whether the ovarian tumor is benign or malignant before operation and frequently to achieve cure even in early detection of the cancer. The risk-reducing salpingo-oophorectomy, therefore, is currently regarded as preventive intervention with the highest certainty for the patients with ovarian cancer that appears with hereditary breast and ovarian cancer (HOBC). As ovarian cancer requires different surveillance from breast cancer, close coordination of gynecologists and breast medicals are required. PARP-inhibitor Olaparib is known to be new molecular target medication towards the patients with ovarian cancers harboring BRCA1/2 genetic alteration. Clinical trials with Olaparib are currently on going.