Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data.,American Journal of Human Genetics

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Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data.
American Journal of Human Genetics ( IF 9.8 ) Pub Date : 2020-08-06 , DOI: 10.1016/j.ajhg.2020.06.005
Simon Easteal ₁ , Ruth M Arkell ₂ , Renzo F Balboa ₁ , Shayne A Bellingham ₁ , Alex D Brown ₃ , Tom Calma ₄ , Matthew C Cook ₅ , Megan Davis ₆ , Hugh J S Dawkins ₇ , Marcel E Dinger ₈ , Michael S Dobbie ₉ , Ashley Farlow ₁₀ , Kylie G Gwynne ₁₁ , Azure Hermes ₁ , Wendy E Hoy ₁₂ , Misty R Jenkins ₁₃ , Simon H Jiang ₅ , Warren Kaplan ₁₄ , Stephen Leslie ₁₀ , Bastien Llamas ₁₅ , Graham J Mann ₂ , Brendan J McMorran ₂ , Rebekah E McWhirter ₁₆ , Cliff J Meldrum ₁₇ , Shivashankar H Nagaraj ₁₈ , Saul J Newman ₁₉ , Jack S Nunn ₂₀ , Lyndon Ormond-Parker ₂₁ , Neil J Orr ₄ , Devashi Paliwal ₉ , Hardip R Patel ₁ , Glenn Pearson ₂₂ , Greg R Pratt ₂₃ , Boe Rambaldini ₄ , Lynette W Russell ₂₄ , Ravi Savarirayan ₂₅ , Matthew Silcocks ₁₀ , John C Skinner ₄ , Yassine Souilmi ₂₆ , Carola G Vinuesa ₂ , ₁ , Gareth Baynam ₂₇

Affiliation

National Centre for Indigenous Genomics, Australian National University, Canberra, ACT 2600, Australia.
John Curtin School of Medical Research, Australian National University, Canberra, ACT 2600, Australia.
Aboriginal Health Equity, South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia; Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5005, Australia.
Poche Centre for Indigenous Health, University of Sydney, Sydney, NSW 2006, Australia.
Department of Immunology, Canberra Hospital, Canberra, ACT 2606, Australia.
UNSW Law, University of New South Wales, Sydney, NSW 2052, Australia.
HBF Health Limited, Perth, WA 6000, Australia; School of Medicine, The University of Notre Dame Australia, Sydney, NSW 2010, Australia; Sir Walter Murdoch School of Policy and International Affairs, Murdoch University, Murdoch, WA 6150, Australia; Division of Genetics, School of Biomedical Sciences, University of Western Australia, Nedlands, WA 6008, Australia; Centre for Population Health Research, Curtin University of Technology, Bentley, WA 6102, Australia.
School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, NSW 2052, Australia.
National Centre for Indigenous Genomics, Australian National University, Canberra, ACT 2600, Australia; John Curtin School of Medical Research, Australian National University, Canberra, ACT 2600, Australia.
National Centre for Indigenous Genomics, Australian National University, Canberra, ACT 2600, Australia; Melbourne Integrative Genomics, University of Melbourne, Melbourne, VIC 3010, Australia.
Poche Centre for Indigenous Health, University of Sydney, Sydney, NSW 2006, Australia; Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW 2113, Australia.
Faculty of Medicine, University of Queensland, Brisbane, QLD 4072, Australia.
Immunology Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; La Trobe Institute of Molecular Science, La Trobe University, Bundoora, VIC 3086, Australia.
Informatics, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.
National Centre for Indigenous Genomics, Australian National University, Canberra, ACT 2600, Australia; Centre of Excellence in Australian Biodiversity and Heritage, School of Biological Sciences, The Environment Institute, University of Adelaide, Adelaide, SA 5005, Australia.
Centre for Law and Genetics, Faculty of Law, University of Tasmania, Hobart, TAS 7001, Australia.
NSW Health Pathology, Sydney, NSW 2065, Australia.
Institute of Health and Biomedical Innovation, Queensland University of Technology, Brisbane, QLD 4000, Australia.
Biological Data Science Institute, Australian National University, Canberra, ACT 2600, Australia.
Public Health, La Trobe University, Melbourne, VIC 3086, Australia.
Melbourne School of Population and Global Health, University of Melbourne, Melbourne, VIC 3010, Australia.
Aboriginal Health, Telethon Kids Institute, Perth, WA 6009, Australia.
Aboriginal and Torres Strait Islander Health, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia.
Centre of Excellence in Australian Biodiversity and Heritage, Monash Indigenous Studies Centre, Monash University, Melbourne, VIC 3800, Australia.
Victorian Clinical Genetic Services, Murdoch Children's Research Institute, and University of Melbourne, Parkville, VIC 3052, Australia.
National Centre for Indigenous Genomics, Australian National University, Canberra, ACT 2600, Australia; School of Biological Sciences, The Environment Institute, University of Adelaide, Adelaide, SA 5005, Australia.
Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA 6004, Australia; The Western Australian Register of Developmental Anomalies, Department of Health, Government of Western Australia, Perth, WA 6004, Australia; School of Medicine, Division of Paediatrics and Telethon Kids Institute, University of Western Australia, Perth, WA 6009, Australia.

Expanded carrier screening (ECS) for recessive monogenic diseases requires prior knowledge of genomic variation, including DNA variants that cause disease. The composition of pathogenic variants differs greatly among human populations, but historically, research about monogenic diseases has focused mainly on people with European ancestry. By comparison, less is known about pathogenic DNA variants in people from other parts of the world. Consequently, inclusion of currently underrepresented Indigenous and other minority population groups in genomic research is essential to enable equitable outcomes in ECS and other areas of genomic medicine. Here, we discuss this issue in relation to the implementation of ECS in Australia, which is currently being evaluated as part of the national Government’s Genomics Health Futures Mission. We argue that significant effort is required to build an evidence base and genomic reference data so that ECS can bring significant clinical benefit for many Aboriginal and/or Torres Strait Islander Australians. These efforts are essential steps to achieving the Australian Government’s objectives and its commitment “to leveraging the benefits of genomics in the health system for all Australians.” They require culturally safe, community-led research and community involvement embedded within national health and medical genomics programs to ensure that new knowledge is integrated into medicine and health services in ways that address the specific and articulated cultural and health needs of Indigenous people. Until this occurs, people who do not have European ancestry are at risk of being, in relative terms, further disadvantaged.

中文翻译：

公平的扩展载波筛查需要本土的临床和人群基因组数据。

用于隐性单基因疾病的扩展载体筛选（ECS）需要具备基因组变异的先验知识，包括引起疾病的DNA变异。致病变异的组成在不同人群之间差异很大，但是从历史上看，有关单基因疾病的研究主要集中在具有欧洲血统的人。相比之下，对于来自世界其他地区的人中的致病性DNA变体知之甚少。因此，将目前代表性不足的土著和其他少数群体纳入基因组研究对于在ECS和其他基因组医学领域实现公平结果至关重要。在这里，我们将讨论与ECS在澳大利亚的实施有关的问题，该问题目前正在作为国家政府的基因组学健康未来使命的一部分进行评估。我们认为，需要大量的精力来建立证据基础和基因组参考数据，以便ECS可以为许多原住民和/或Torres Strait Islander澳大利亚人带来重大的临床收益。这些努力是实现澳大利亚政府目标和承诺“利用基因组学对全体澳大利亚人的好处”的重要步骤。他们需要在国家卫生和医学基因组计划中纳入文化安全，社区主导的研究和社区参与，以确保将新知识以解决土著人民具体和明确的文化与健康需求的方式纳入医学和卫生服务。在这种情况发生之前，没有欧洲血统的人有处于相对不利地位的危险。

更新日期：2020-08-06

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