title: Current status of clinical care for familial endocrine tumor syndromes in Japan.
abstract: We performed nationwide questionnaire-based surveys to characterize the current status of medical services for endocrine tumor syndromes, such as multiple endocrine neoplasia (MEN) and von Hippel-Lindau disease (VHL), in Japan. About 30% of the respondents had seen patients with either MEN or VHL, but the number of patients most of respondents had encountered was 5 or fewer. On the other hand, a large number of patients had been seen in a few hospitals, which seemed to be the result of the availability of specialists, rather than of geographic location. Although nearly 90% of hospitals had performed genetic tests, less than half of the hospitals had a clinical genetics division that provided genetic counseling to patients and/or family members. Not all of the respondents were thoroughly familiar with the "Guidelines for genetic testing" proposed by the consortium of Japanese genetic-medicine-related societies in 2003. Only 27.8% of respondents have read the guidelines and understood their concepts.
authors.affiliation: Division of Medical Genetics, Department of Preventive Medicine, Shinshu University School of Medicine, Matsumoto.
authors.forename: Akihiro
authors.initials: A
authors.lastname: Sakurai
authors.forename: Shinya
authors.initials: S
authors.lastname: Uchino
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Takami
mesh_terms: D004501:Education, Medical; D004701:Endocrine Gland Neoplasms / Q000453:epidemiology / Q000235:genetics; D005500:Follow-Up Studies; D005817:Genetic Counseling / Q000706:statistics & numerical data*; D005820:Genetic Testing / Q000706:statistics & numerical data*; D005826:Genetics, Medical / Q000193:education; D019538:Health Care Surveys / Q000706:statistics & numerical data*; D006296:Health Services; D006801:Humans; D007564:Japan; D009377:Multiple Endocrine Neoplasia / Q000235:genetics*; D011795:Surveys and Questionnaires; D013577:Syndrome; D006623:von Hippel-Lindau Disease / Q000235:genetics*