2024-03-29T13:00:38Z
https://niigata-u.repo.nii.ac.jp/oai
oai:niigata-u.repo.nii.ac.jp:00016189
2022-12-15T03:47:46Z
453:456
471:537:538:1099
1)The Progress and Issues of Genetic Testing in Neurological Diseases
1)神経内科領域における遺伝子診断の進歩とその問題(シンポジウム 遺伝子診断の最近の進歩, 第541回新潟医学会 )
1)神経内科領域における遺伝子診断の進歩とその問題(シンポジウム 遺伝子診断の最近の進歩, 第541回新潟医学会 )
田中, 一
103286
genetic testing
ethics
informed consent
counseling
遺伝子診断
倫理
インフォームドコンセント
カウンセリング
We have performed many genetic testings for 14 familial neurological diseases (ALD, FSHD, SBMA, FALS, HD, DRPLA, SCA’1, SCA 2, MJD. , SCA 6, SCA 7, FRDA, MELAS and MERRF). The genetic testings have many advantages over other diagnostic skills in final diagnosis, carrier detection, and use of noninvasive approach. Al though the genetig testing is a very powerful skill in the diagnosis of difficult cases, it includes many issues. We cannot perfectly exclude the possibility of false positive and/ or false negative results in genetic testings. The analysis using the genomic DNA extracted from peripheral lymphocytes has diagnostic limitations in diagnosis of some diseases. In the ethical, legal, and social issues (ELSI), they include many problems about notification of diagnosis, protection of privacy, and genetic discrimination for health insurance and/or employment. Since the genetic testing is not a panacea, we have to understand the limitation and reliabilities. Although the genetic testings have the many“ advantages and ELSI at the moment, it is important that they don’t become double-bdged swords for clients. Therefore, now we should shape a social consensus for the genetic testings.
departmental bulletin paper
新潟医学会
1999-02
application/pdf
新潟医学会雑誌
2
113
83
86
新潟医学会雑誌
AN00182415
00290440
https://niigata-u.repo.nii.ac.jp/record/16189/files/113(2)_83-86.pdf
jpn