Journal article

Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data

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 Show all



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 impl..

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Awarded by National Health and Medical Research Council

Funding Acknowledgements

Sandra Cooper, Patricia Easteal, Paul Lacaze, Daniel MacArthur, Carol Wicking, Jackie Stenhouse, and Phillip Wilcox provided valuable comments and feedback. The National Centre for Indigenous Genomics' genome sequencing program is supported by grants from the Australian Genomics Health Alliance, the Australian Research Data Commons (ARDC), Bioplatforms Australia (BPA), the Canberra Medical Society, the National Computational Infrastructure (NCI) through their ANU and National Merit Allocation Schemes, and the National Health and Medical Research Council (GNT1143734). NCI, ARDC, and BPA are supported by the Australian Government through the National Collaborative Research Infrastructure Strategy (NCRIS) program.