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.
Aboriginal communities in Australia have adopted new information technologies in innovative ways. The most well known is the Ara Irititja project software, now increasingly adopted by many local community groups in Australia. These developments demand a policy response from public collecting institutions and governments. There is a raft of opportunities being presented by current archival and record-keeping, and information and record-development programs and activities in Aboriginal communities. These include economic empowerment through the development and distribution of new products; community empowerment through ''owning'' histories, stories, images and other associated material and being able to manage the context of, and access to this material; and the development of opportunities for young people. Accompanying these opportunities, however, are serious threats to the protection, preservation, collection and use of this material. These threats are both immediate and long-term and include technology changes and format shifting; physical threats to local collections; the lack of IT expertise and archival knowledge; a lack of knowledge or agreement on the archiving system, standards and principles, and many others. This paper proposes that archives held, and being developed in Aboriginal communities, are developed as a nationally distributed collection with community-generated protocols and community-based management, supported within a fully integrated national framework.
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