全球关于返回帕金森病遗传研究结果的观点
Ai Huey Tan1, Paula Saffie-Awad1, Artur F Schumacher Schuh1
1From the Division of Neurology (A.H.T., S.-Y.L.), Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia; Programa de Pós-Graduação em Ciências Médicas da Universidade Federal do Rio Grande do Sul (P.S.-A.), Clínica Santa María, Santiago, Chile; Departamento de Farmacologia (A.F.S.S.), Universidade Federal do Rio Grande do Sul; Serviço de Neurologia (A.F.S.S.), Hospital de Clínicas de Porto Alegre, Brazil; Institute of Neurogenetics (H.M., M.L.D., C.K.), University of Lübeck, Germany; Department of Biomedical Science (A.A.-A.), Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia; The Michael J. Fox Foundation for Parkinson's Research (J.S., B.F.), New York; Department of Medical and Molecular Genetics (C.E.W.), Indiana University, Indianapolis; Department of Neuroscience and Brain Health (M.L.D.), Metropolitan Medical Center, Manila, Philippines; Centre for Preventive Neurology (S.D., M.T.P., A.J.N.), Wolfson Institute of Population Health, Queen Mary University of London, United Kingdom; Unidad de Trastornos del Movimiento (M.T.P.), Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Spain; Laboratory of Neurogenetics (M.B.M.), National Institute on Aging, National Institutes of Health, Bethesda, MD; Department of Clinical and Movement Neurosciences (M.B.M., H.R.M.), UCL Queen Square Institute of Neurology, University College London, United Kingdom; Department of Neurology (R.N.A.), Columbia University Irving Medical Center, New York; Movement Disorders Division (R.N.A.), Neurological Institute, Tel Aviv Sourasky Medical Center and Tel Aviv School of Medicine, Tel Aviv University, Israel; Molecular Medicine Laboratory and Neurology Department (K.R.K.), Concord Clinical School, Concord Repatriation General Hospital, The University of Sydney; Translational Neurogenomics Group (K.R.K.), Genomic and Inherited Disease Program, Garvan Institute of Medical Research; and St Vincent's Healthcare Campus (K.R.K.), Faculty of Medicine, UNSW Sydney, Darlinghurst, New South Wales, Australia.
在帕金森病 (PD) 中返回遗传研究结果需要仔细考虑. 全球对PD遗传学研究人员的调查揭示了研究结果公平回报 (RoR) 的不同做法和需求.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 生物伦理学生物伦理学
背景情况:
- 精准医学越来越依赖帕金森病 (PD) 患者的基因检测.
- 将研究遗传测试结果返还给患者带来了伦理和实际的挑战.
- 缺乏标准化的协议使得返回研究结果的指导方针变得复杂.
研究的目的:
- 在全球帕金森病遗传学计划 (GP2) 中制定研究结果回报 (RoR) 实践的建议.
- 调查GP2成员对RoR的看法,实践,准备和需求.
主要方法:
- 全球帕金森遗传学计划 (GP2) 的成员分发了一项全球调查.
- 该调查收集了关于研究结果回报的看法,实践,准备和需求的数据.
- 来自60个国家的147个机构的191名GP2成员参加了比赛.
主要成果:
- 在高收入国家和低收入和中等收入国家之间,获得临床遗传测试的机会差异很大.
- 超过90%的受访者同意应该返回遗传研究结果,特别是临床相关的发现.
- 不到10%的人在返回研究结果之前提供了单独的临床认证测试;对偶然发现的满意度很低.
结论:
- 由于资源和培训差异,定制方法对于公平获得RoR至关重要.
- 改善RoR的策略包括加强知情同意,遗传咨询能力和获得认可测试的机会.
- 对于公众和医疗保健提供者来说,关于遗传学在PD中的作用的持续教育至关重要.
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