Browsing by Author "Pearson G."
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Item Genetic research and Aboriginal and Torres Strait Islander Australians.(2014-03-10) Kowal E.; Pearson G.; Peacock C.S.; Jamieson S.E.; Blackwell J.M.While human genetic research promises to deliver a range of health benefits to the population, genetic research that takes place in Indigenous communities has proven controversial. Indigenous peoples have raised concerns, including a lack of benefit to their communities, a diversion of attention and resources from non-genetic causes of health disparities and racism in health care, a reinforcement of "victim-blaming" approaches to health inequalities, and possible misuse of blood and tissue samples. Drawing on the international literature, this article reviews the ethical issues relevant to genetic research in Indigenous populations and considers how some of these have been negotiated in a genomic research project currently under way in a remote Aboriginal community. We consider how the different levels of Indigenous research governance operating in Australia impacted on the research project and discuss whether specific guidelines for the conduct of genetic research in Aboriginal and Torres Strait Islander communities are warranted. © 2012 Springer Science+Business Media B.V.Item Investigating disparity in access to Australian clinical genetic health services for Aboriginal and Torres Strait Islander people.(2022-09-06) Luke J.; Dalach P.; Tuer L.; Savarirayan R.; Ferdinand A.; McGaughran J.; Kowal E.; Massey L.; Garvey G.; Dawkins H.; Jenkins M.; Paradies Y.; Pearson G.; Stutterd C.A.; Baynam G.; Kelaher M.Globally, there is a recognised need that all populations should be able to access the benefits of genomics and precision medicine. However, achieving this remains constrained by a paucity of data that quantifies access to clinical genomics, particularly amongst Indigenous populations. Using administrative data from clinical genetic health services across three Australian jurisdictions (states/territories), we investigate disparities in the scheduling and attendance of appointments among Aboriginal and/or Torres Strait Islander people, compared to non-Indigenous people. For 14,870 appointments scheduled between 2014-2018, adjusted Multivariate Poisson Regression models revealed that Aboriginal and/or Torres Strait Islander people were scheduled fewer appointments (IRR 0.73 [0.68-0.80], <0.001) and attended at lower rates (IRR 0.85 [0.78-0.93], <0.001). Within this population, adults, females, remote residents, and those presenting in relation to cancer or prenatal indications experienced the greatest disparity in access. These results provide important baseline data related to disparities in access to clinical genomics in Australia.Copyright © 2022, The Author(s).Item The landscape of genomic structural variation in Indigenous Australians.(2023-12-15) Reis A.L.M.; Rapadas M.; Hammond J.M.; Gamaarachchi H.; Stevanovski I.; Ayuputeri Kumaheri M.; Chintalaphani S.R.; Dissanayake D.S.B.; Siggs O.M.; Hewitt A.W.; Llamas B.; Brown A.; Baynam G.; Mann G.J.; McMorran B.J.; Easteal S.; Hermes A.; Jenkins M.R.; Pearson G.; Roe Y.; Mohamed J.; Murray B.; Ormond-Parker L.; Kneipp E.; Nugent K.; Mann G.; Patel H.R.; Deveson I.W.Indigenous Australians harbour rich and unique genomic diversity. However, Aboriginal and Torres Strait Islander ancestries are historically under-represented in genomics research and almost completely missing from reference datasets 1-3. Addressing this representation gap is critical, both to advance our understanding of global human genomic diversity and as a prerequisite for ensuring equitable outcomes in genomic medicine. Here we apply population-scale whole-genome long-read sequencing 4 to profile genomic structural variation across four remote Indigenous communities. We uncover an abundance of large insertion-deletion variants (20-49 bp; n = 136,797), structural variants (50 b-50 kb; n = 159,912) and regions of variable copy number (>50 kb; n = 156). The majority of variants are composed of tandem repeat or interspersed mobile element sequences (up to 90%) and have not been previously annotated (up to 62%). A large fraction of structural variants appear to be exclusive to Indigenous Australians (12% lower-bound estimate) and most of these are found in only a single community, underscoring the need for broad and deep sampling to achieve a comprehensive catalogue of genomic structural variation across the Australian continent. Finally, we explore short tandem repeats throughout the genome to characterize allelic diversity at 50 known disease loci 5, uncover hundreds of novel repeat expansion sites within protein-coding genes, and identify unique patterns of diversity and constraint among short tandem repeat sequences. Our study sheds new light on the dimensions and dynamics of genomic structural variation within and beyond Australia.Copyright © 2023, The Author(s).