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.