The Japanese Society for Familial Tumors has started authorization system for “FCC” since 2012. The role of “Familial tumor counselor / coordinator :FCC” in hereditary tumor practice is defined as “Spread of knowledge and medical care improvements in hereditary tumors, as well as to develop human resources who contributes in the fields of education”. Especially, “Familial tumor counselor” is required to be as a medical geneticist / genetic counselor, and FCC should secure professionality in hereditary tumor practice. I discussed about the newly determined role of FCC in Japan, through my practical experience as FCC.

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[in Japanese]

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In Hyogo Cancer Center, the genetic counseling clinic launched in 2013. We have developed questionnaire-based referral system to the genetic counseling clinic under the cooperation of Hereditary Cancer Committee since 2014. However, referrals of clients suspected with Lynch syndrome were fewer than expected. Then we attempted reevaluation of questionnaires in the gastrointestinal surgery ward to assess patient risk by the genetic counseling clinic staffs. We collected 215 questionnaires from August 1, 2016 to June 30, 2017. Among them, 82 from colorectal cancer patients were evaluated by a certified genetic counselor using the criteria of revised Bethesda Guideline. 18 fulfilled the criteria, 13 had a personal interview with a certified genetic counselor and 2 proceeded to have a consultation in the genetic counseling office. We could detect and meet some latent patients’ needs for cancer genetic information through the attempt. Reasons why not proceed to have a genetic counseling after the personal interview with a certified genetic counselor included patients’ preference to concentrate the current therapy. Timing of the interview and continuous follow up are subjects to be considered for effective approach to latent needs for genetic counseling.

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A 28-year-old man, who was diagnosed with Peutz- Jeghers syndrome (PJS) when he was 13 years old, was admitted for surveillance of gastric polyps by upper gastrointestinal endoscopy. Endoscopic examination revealed (i) a type 0-I lesion measuring 30 mm in diameter at the antrum and (ii) a type 0-I lesion measuring 25 mm in diameter at the lower gastric body. Both lesions revealed no malignancy under enlarged endoscopic observation with narrow band imaging and biopsy. The lesions were treated by endoscopic submucosal dissection since theses polyps were enlarged when compared with that of 3 years ago. Histopathological examination revealed that the surface of lesion (i) was made up of only hamartoma components, whereas the inside of the lesion comprised a mixture of hamartoma and adenocarcinoma components. The surface of lesion (ii) comprised a mixture of hamartoma and adenocarcinoma components. Therefore, both the lesions were diagnosed as adenocarcinoma associated with Peutz-Jeghers polyp (PJ polyp). In most of cases, it may be difficult to detect early gastric cancer in the PJ polyp of a patient with PJS. Therefore, endoscopic resection should be considered for a growing polyp, particularly when it exceeds 20 mm in size.

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Japan needs to develop a health policy for utilization of medical informatics in accordance with promotion of genome medicine. Finland, which is a country highly advanced in terms of informatics, would be a good reference for Japan to develop the legal and social infrastructure for utilization of medical informatics. We visited the relevant Finnish organizations to collect information regarding laws and regulations, research infrastructure, and patients’ opinion on utilization of the health data. We focused on three topics in Finland: Genome Act, Act on Secondary Use of Health and Social data, and FinnGen project. We have three suggestions based on the results. First, we can consider using the existing research infrastructure including biobanks. We have a variety of biobanks in Japan; however, the researchers cannot utilize the existing samples or data because of the complicated sharing process. A system for matching the available sample or data with the researchers may be useful. Second, when adding the clinical information or other registry data to the existing sample at the biobanks, researchers may use the biobank consent as justification for secondary use of the patient’s healthrelated data. Third, we need IDs connecting clinical and research data/samples. This can optimize the data and sample collection process, which is currently timeconsuming. We need further research on the current situation in the U.S., which has already implemented genome medicine as a clinical practice, to provide recommendations for Japanese policy on genome medicine.

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