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Indigenous genetics and rare diseases: harmony, diversity and equity.

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dc.contributor.authorBaynam G.
dc.contributor.authorMolster C.
dc.contributor.authorBauskis A.
dc.contributor.authorKowal E.
dc.contributor.authorSavarirayan R.
dc.contributor.authorKelaher M.
dc.contributor.authorEasteal S.
dc.contributor.authorMassey L.
dc.contributor.authorGarvey G.
dc.contributor.authorGoldblatt J.
dc.contributor.authorPachter N.
dc.contributor.authorWeeramanthri T.S.
dc.contributor.authorDawkins H.J.S.
dc.date.accessioned2024-11-19T05:30:11Z
dc.date.available2024-11-19T05:30:11Z
dc.date.copyright2017
dc.date.issued2017-12-22en
dc.description.abstractAdvances in our understanding of genetic and rare diseases are changing the face of healthcare. Crucially, the global community must implement these advances equitably to reduce health disparities, including between Indigenous and non-Indigenous peoples. We take an Australian perspective to illustrate some key areas that are fundamental to the equitable translation of new knowledge for the improved diagnosis of genetic and rare diseases for Indigenous people. Specifically, we focus on inequalities in access to clinical genetics services and the lack of genetic and phenomic reference data to inform diagnoses. We provide examples of ways in which these inequities are being addressed through Australian partnerships to support a harmonious and inclusive approach to ensure that benefits from traditional wisdom, community knowledge and shared experiences are interwoven to support and inform implementation of new knowledge from genomics and precision public health. This will serve to deliver benefits to all of our diverse citizens, including Indigenous populations.Copyright © Springer International Publishing AG 2017.
dc.description.grantNo: #1114437 Organisation: (NHMRC) National Health and Medical Research Council Organisation No: 501100000925 Country: Australia
dc.description.grantThe authors are supported by an NHMRC Partnership Grant (#1114437) and the Lowitja Institute.
dc.identifier.citationAdvances in Experimental Medicine and Biology. Vol.1031, 2017, pp. 511-520.
dc.identifier.doihttps://dx.doi.org/10.1007/978-3-319-67144-4_27
dc.identifier.institution(Baynam) Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA, Australia
dc.identifier.institution(Baynam) Western Australian Register of Developmental Anomalies, Subiaco, WA, Australia
dc.identifier.institution(Baynam) SubiacoWAAustralia
dc.identifier.institution(Molster, Bauskis, Dawkins) Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia
dc.identifier.institution(Kowal) Alfred Deakin Institute for Citizenship and Globalisation, Deakin University, Melbourne, Australia
dc.identifier.institution(Kowal, Easteal, Massey) National Centre for Indigenous Genomics, Australian National University, Canberra, ACT, Australia
dc.identifier.institution(Savarirayan) Victorian Clinical Genetics Services, Parkville, VIC, Australia
dc.identifier.institution(Savarirayan) Department of Paediatrics, University of Melbourne, Melbourne, VIC 3010, Australia
dc.identifier.institution(Savarirayan) Northern Territory Clinical Genetics Services, Darwin, NT 9000, Australia
dc.identifier.institution(Kelaher) Melbourne School of Population and Global Health, University of Melbourne, Melbourne, VIC 3010, Australia
dc.identifier.institution(Easteal, Massey) John Curtin School of Medical Research, Australian National University, Canberra, Australia
dc.identifier.institution(Garvey) Wellbeing and Preventable Chronic Disease Division, Menzies School of Health Research, Charles Darwin University, Darwin, NT 0811, Australia
dc.identifier.institution(Goldblatt, Pachter) Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia
dc.identifier.institution(Goldblatt, Pachter) School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia
dc.identifier.institution(Pachter) School of Medicine and Pharmacology, University of Western Australia, Perth, WA, Australia
dc.identifier.institution(Weeramanthri) Sir Walter Murdoch School of Public Health and International Affairs, Murdoch University, Perth, WA, Australia
dc.identifier.pubmedid29214589 [https://www.ncbi.nlm.nih.gov/pubmed/?term=29214589]
dc.identifier.urihttps://lowitja.intersearch.com.au/handle/1/655
dc.relation.ispartofAdvances in Experimental Medicine and Biology
dc.subject.keywordsGenetics
dc.titleIndigenous genetics and rare diseases: harmony, diversity and equity.
dc.typeArticle
dc.type.studyortrialReview article (e.g. literature review, narrative review)

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