Expanded carrier screening for monogenic diseases for Australians of Aboriginal and/or Torres Strait Islander descent
Accounting for ancestral diversity is essential in medical genomics. For this reason, inclusion of Indigenous and other under-represented populations in genomic research is necessary to ensure equitable outcomes and access to precision medicine and disease prevention. Here we discuss this issue in the context of a national program of pre-conception expanded carrier screening (ECS) for recessive monogenic diseases, funded by the Australian Government as part of its Genomics Health Futures Mission. Current knowledge and research about monogenic diseases are mainly based on people with European ancestry and little is known about pathogenic DNA variants in people of Aboriginal and/or Torres Strait Islander descent. We argue that significant effort is required to build the evidence base and genomic reference data required before ECS can bring significant clinical benefit for many Aboriginal and/or Torres Strait Islander Australians. Research programs and creation of reference data are required to correct this bias. They 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 engagement embedded within national health and medical genomics programs that ensure that new knowledge is integrated into medicine and health services in ways that address the cultural and health needs of Indigenous people. Until this occurs, Australians of European ancestry stand to benefit most and, as a consequence, Indigenous Australians and other minority groups in the Australian population are at risk of being, in relative terms, further disadvantaged.