Oral Presentation 41st Lorne Genome Conference 2020

Medical genomics and Australians of Aboriginal and/or Torres Strait Islander descent (#3)

Simon Easteal 1
  1. National Centre for Indigenous Genomics, John Curtin School of Medical Research, Australian National University, Canberra, ACT, Australia

The impact of genomics on healthcare is founded on evidence about causal relationships between genomic variation and disease phenotypes. Existing evidence, which has been compiled over decades mainly relates to people of European ancestry. Crucial differences exist between human populations that prevent this knowledge being readily transferred to other populations. In Australia, a more diverse evidence base is needed for inclusion and equity of access to healthcare services. Addressing this need provides an opportunity to achieve the goals of patient and participant engagement, integration of research and clinical care, and equitable access, as well as significant opportunities to make important discoveries. In this talk I address how the National Centre for Indigenous Genomics has created a framework to enable inclusion of Indigenous Australians in a way that will achieve these outcomes. The approach is on three pillars: Strong Indigenous governance, substantial community involvement, and an appropriate model of data management. Data provided by participating communities is used to illustrates key points about the need to accommodate ancestral diversity in the human reference genome and in population reference data.