Abstract
The authors assessed the present status of gene analysis utilized in Japan. Physicians completed a mail-in questionnaire with their comments regarding the types of gene analyses they used, the perceived effectiveness of the analyses, and how they conducted genetic counselling for the patients. Among the 76 physicians who responded, gene analysis was most often conducted (n=16, 75.0%) for muscle dystrophies, and considered to be effective by most of them (χ2 (df=2) =11.99, p=0.003). Many factors including the age of physicians, location of their facilities, and experience in child neurology were related to the utilization of gene analyses. Future studies based on ethical guidelines should establish a network between specialists and facilities and encourage medical approach to developmental disorders.
