title: [Current status of predictive genetic testing in neurological diseases - from the stand point of genetic specialist].
abstract: Although genetic reserch in neurological diseases has been dramatically advanced, its application to clinical neurology is still limited. Given the increased awareness of genetic testing in neurological diseases such as spinocerebellar ataxia, patients and their relatives' requests for information is increasing. In this report, we provide a framework for assessing genetic risk of neurological diseases in at-risk relatives baesd on our experience in TMDU medical hospital. Reagrding asymptomatic individuals, there are concerns that prerictive testing may trigger some unexpected psychological responses, such as severe depression and anxiety. Thus we also conducted a questionnaire for neurologists about predictive genetic testing in their clinic. Thre obtained results contained the complexed difficulties which can be shared among broader communities of medical specialists.
authors.affiliation: Medical Genetics, Tokyo Medical and Dental University.
authors.forename: Masayuki
authors.initials: M
authors.lastname: Yoshida
mesh_terms: D020132:Anticipation, Genetic; D003937:Diagnosis, Differential; D005190:Family / Q000523:psychology; D005817:Genetic Counseling; D005820:Genetic Testing; D005826:Genetics, Medical; D006801:Humans; D009422:Nervous System Diseases / Q000175:diagnosis* / Q000235:genetics* / Q000523:psychology; D010348:Patient Care Team; D012306:Risk; D013038:Specialization; D020754:Spinocerebellar Ataxias / Q000235:genetics; D013315:Stress, Psychological; D011795:Surveys and Questionnaires