作者
Simon Easteal, Ruth M Arkell, Renzo F Balboa, Shayne A Bellingham, Alex D Brown, Tom Calma, Matthew C Cook, Megan Davis, Hugh JS Dawkins, Marcel E Dinger, Michael S Dobbie, Ashley Farlow, Kylie G Gwynne, Azure Hermes, Wendy E Hoy, Misty R Jenkins, Simon H Jiang, Warren Kaplan, Stephen Leslie, Bastien Llamas, Graham J Mann, Brendan J McMorran, Rebekah E McWhirter, Cliff J Meldrum, Shivashankar H Nagaraj, Saul J Newman, Jack S Nunn, Lyndon Ormond-Parker, Neil J Orr, Devashi Paliwal, Hardip R Patel, Glenn Pearson, Greg R Pratt, Boe Rambaldini, Lynette W Russell, Ravi Savarirayan, Matthew Silcocks, John C Skinner, Yassine Souilmi, Carola G Vinuesa, Gareth Baynam
发表日期
2020/8/6
期刊
The American Journal of Human Genetics
卷号
107
期号
2
页码范围
175-182
出版商
Elsevier
简介
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 …
学术搜索中的文章
S Easteal, RM Arkell, RF Balboa, SA Bellingham… - The American Journal of Human Genetics, 2020