Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data

Simon Easteal, Ruth M Arkell, Renzo F. Balboa, Shane A. Bellingham, Lynette Russell, Alex Brown, Tom Calma, Matthew C Cook, Megan Davis, Hugh J.S. Dawkins, Marcel E Dinger, Michael Serge Dobbie, Ashley Farlow, Kylie Gwynne, Azure Hermes, Wendy E Hoy, Misty R. Jenkins, Simon H Jiang, Warren Kaplan, Stephen LeslieBastien Llamas, Graham J Mann, Brendan J McMorran, Rebekah E. McWhirter, Cliff J. Meldrum, Shivashankar Hiriyur Nagaraj, Saul J. Newman, Jack S. Nunn, Lyndon Ormond-Parker, Neil J. Orr, Devashi Paliwal, Hardip Rameshbhai Patel, Glenn Pearson, Greg R. Pratt, Boe Rambaldini, Lynette Russell, Ravi Savarirayan, Matthew Silcocks, John C. Skinner, Yassine Souilmi, Gareth S Baynam

Research output: Contribution to journalComment / DebateOtherpeer-review


Expanded carrier screening (ECS) for recessive monogenic diseases requires prior knowledge of genomic variation, including DNA var-
iants 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 mi-
nority 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 na-
tional 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.
Original languageEnglish
Pages (from-to)175-182
Number of pages8
JournalAmerican Journal of Human Genetics
Publication statusPublished - 2020

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