Citation:
Baynam GS, Pearson G, Blackwell J. Translating aboriginal genomics — four letters closing the gap. Medical Journal of Australia. 2016;205(8):379-.e1
Keywords:
Aboriginal, genetics, genomic reference, exome sequencing
Abstract:
Rare diseases (RD) are typically complex, chronic, often multisystem, and frequently genetic disorders associated with significant morbidity and mortality. They affect up to 6–8% of the population and 30% of Australians with RD waited between 5 to 30 or more years for a diagnosis. There are now game-changing clinical genomic approaches that are reducing these diagnostic odysseys. However, parallel to hitherto unachieved improvements in RD diagnosis is the known and recently demonstrated risk that Indigenous Australians will not enjoy the same diagnostic opportunities as non-Indigenous Australians.