全国范围内,基于夫妇的遗传载体查.
Edwin P Kirk1, Martin B Delatycki1, Alison D Archibald1
1From the Centre for Clinical Genetics, Sydney Children's Hospital (E.P.K., K.B., S.R., S.K.), NSW Health Pathology Randwick Genomics Laboratory (E.P.K., B.R., C.C.C., F.Z., J.F., M.B., N.Q., S.R., S.K., T.R., Y.Z.), the School of Clinical Medicine (E.P.K., M.B.), the School of Women's and Children's Health (L. Freeman, S.R., S.K.), and the Randwick Clinical Campus, Neuroscience Research Australia (Y.Z.), University of New South Wales, Randwick, Victorian Clinical Genetics Services (M.B.D., A.D.A., A.K.-P., C.H., C.L., I.D., J.E.M., K.S., L.G., L.T., M.C.O., M. Wall, M.T.M.C., M.M.F., N.L., S. Lunke, S. Eggers), the Bruce Lefroy Centre, Murdoch Children's Research Institute (M.B.D., E.A.K.), the Department of Paediatrics (M.B.D., A.D.A., E.T., J.L.H., S. Lewis, B.J.M., J. Massie, E.A.K., Z.F.), the Department of General Practice and Centre for Cancer Research (J.D.E.), and the Department of Pathology (Sebastian Lunke), University of Melbourne, Murdoch Children's Research Institute (A.D.A., E.T., J.C., J.L.H., S. Lewis, B.J.M., J. Massie, A.R., E.A.K., E.O.M., L.G., M.H., S.J., S. Lunke, S. Eggers, T.F.B.), and Australian Genomics (J.C., A.J.N., S.B., Jeffrey Braithwaite, E.O.M., K.B., S.J., Z.F., T.F.B.), Parkville, VIC, the Faculty of Medicine and Health, Sydney School of Public Health, Sydney Health Ethics, University of Sydney, Camperdown, NSW (A.J.N., L.D.), the Graduate School of Health, University of Technology Sydney (L.D., L. Freeman), Macquarie University, Australian Institute of Health Innovation (J.C.L., J. Braithwaite, T.T.), and the Faculty of Medicine and Health, University of New South Wales (K.B.-S.), Sydney (R.C.), the Peter MacCallum Cancer Centre (S.B.), the Victorian Comprehensive Cancer Centre (S.B.), the Sir Peter MacCallum Department of Oncology (S.B.) and the Department of Obstetrics and Gynaecology (S.P.W.), University of Melbourne, the Department of Respiratory Medicine and Children's Bioethics Centre, the Royal Children's Hospital (J. Massie), Genomic Diagnostics (A.K.), and Virtus Health, Virtus Genetics (S.S.-M.), Melbourne, VIC, Menzies Health Institute Queensland, Griffith University, and Griffith University School of Medicine and Dentistry, Gold Coast (M.J.D., P.A.S.), the Northern Clinical School, Faculty of Medicine and Health (K.B.S., L.B.), and Royal North Shore Hospital, Kolling Institute, Cancer Genetics Laboratory (Y.Z.), University of Sydney, St. Leonards, NSW, SA Pathology (A.K., T.H.), South Australian Clinical Genetics Service (J.L.) and the Pediatric and Reproductive Genetics Unit (L. Fitzgerald), Women's and Children's Hospital, and Repromed (J.L.), Adelaide, the Children's Hospital at Westmead, Sydney Genome Diagnostics (B.H.B., G.H., K.F.), the Specialty of Genomic Medicine, Faculty of Medicine and Health, the Children's Hospital at Westmead Clinical School, University of Sydney (B.H.B., G.H., K.F.), and the Department of Clinical Genetics, the Children's Hospital at Westmead (K.B.), Westmead, NSW, Genetic Health Queensland, Royal Brisbane and Women's Hospital (C.E., J. McGaughran, T. Clinch), and the School of Medicine, University of Queensland (Julie McGaughran), Brisbane, the Department of Diagnostic Genomics, PathWest Laboratory Medicine (D.A., M.R.D., P.K.P., R.J.N.A., R.O., T. Catchpool, N.G.L.), the School of Biological Sciences, Centre for Genetic Origins of Health and Disease (J. Beilby), the Centre for Medical Research (M.R.D., R.O., N.G.L.), and the Faculty of Health and Medical Sciences (N.P.), University of Western Australia, and Harry Perkins Institute of Medical Research (R.O., Samantha Edwards, N.G.L.), Nedlands, the Department of Pathology and Laboratory Medicine, Medical School, University of Western Australia (D.A.), and Genetic Services of Western Australia, King Edward Memorial Hospital (J.K., N.P.), Perth, the Tasmanian Clinical Genetics Service (K.H., M. Wallis) and the School of Medicine and Menzies Institute for Medical Research (M. Wallis), University of Tasmania, Hobart, the Garvan Institute of Medical Research and the School of Clinical Medicine, St. Vincent's Clinical Campus, University of New South Wales, Darlinghurst (L.B.), King Edward Memorial Hospital, Subiaco, WA (N.P.), the School of Biomedical Sciences, University of Western Australia, Crawley (R.J.N.A.), Sonic Healthcare, Douglass Hanly Moir Pathology, Macquarie Park, NSW (S.S.), Mercy Hospital for Women, Mercy Perinatal, Heidelberg, VIC (S.P.W.), and Monash IVF Group, Richmond, VIC (T.H.) - all in Australia; and the International Society for Quality in Health Care, Dublin (J. Braithwaite).
在澳大利亚,全国性的基因携带者查被证明是可行的,对生殖夫妇来说是可以接受的. 该计划确定了患有遗传病的风险增加的夫妇,告知了生殖选择,并减少了受影响的出生.
科学领域:
- 生殖遗传学 生殖遗传学
- 基因组查是指基因组查.
- 公共卫生倡议 公共卫生倡议
背景情况:
- 基因组测序可以识别出具有遗传疾病后代风险较高的夫妇.
- 自体逆向和X相关的疾病是载体查的关键目标.
研究的目的:
- 调查澳大利亚全国范围的基于夫妇的遗传载体查计划的可行性,可接受性和结果.
- 在查后评估心理社会影响,参与者接受度和生殖选择.
主要方法:
- 一个全国性的,以夫妇为基础的基因携带者查计划,提供给个人在怀孕前或怀孕初期.
- 测试涉及至少1281个基因,并向生殖夫妇提供结果.
- 测量结果包括心理社会影响,可接受性和生殖决策.
主要成果:
- 超过90%的注册夫妇完成了查,其中1.9%被确定具有传染遗传疾病的可能性增加.
- 自体逆行性疾病占90个基因的确定的遗传风险的74.3%.
- 76.6%的风险夫妇使用或计划进行生殖干预;查是高度可接受的 (98.9%),决策后悔很低.
结论:
- 基于夫妇的遗传载体查是可以接受的,并为生殖决策提供了信息.
- 在多样化的人口中进行全国范围的实施是可行的.
- 该计划成功识别了有风险的夫妇,并促进了知情的生殖选择.
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