Indigenous genetics and rare diseases: harmony, diversity and equity.
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Date
2017-12-22
Journal Title
Journal ISSN
Volume Title
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Affiliation(s)
(Baynam) Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA, Australia
(Baynam) Western Australian Register of Developmental Anomalies, Subiaco, WA, Australia
(Baynam) SubiacoWAAustralia
(Molster, Bauskis, Dawkins) Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia
(Kowal) Alfred Deakin Institute for Citizenship and Globalisation, Deakin University, Melbourne, Australia
(Kowal, Easteal, Massey) National Centre for Indigenous Genomics, Australian National University, Canberra, ACT, Australia
(Savarirayan) Victorian Clinical Genetics Services, Parkville, VIC, Australia
(Savarirayan) Department of Paediatrics, University of Melbourne, Melbourne, VIC 3010, Australia
(Savarirayan) Northern Territory Clinical Genetics Services, Darwin, NT 9000, Australia
(Kelaher) Melbourne School of Population and Global Health, University of Melbourne, Melbourne, VIC 3010, Australia
(Easteal, Massey) John Curtin School of Medical Research, Australian National University, Canberra, Australia
(Garvey) Wellbeing and Preventable Chronic Disease Division, Menzies School of Health Research, Charles Darwin University, Darwin, NT 0811, Australia
(Goldblatt, Pachter) Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia
(Goldblatt, Pachter) School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia
(Pachter) School of Medicine and Pharmacology, University of Western Australia, Perth, WA, Australia
(Weeramanthri) Sir Walter Murdoch School of Public Health and International Affairs, Murdoch University, Perth, WA, Australia
(Baynam) Western Australian Register of Developmental Anomalies, Subiaco, WA, Australia
(Baynam) SubiacoWAAustralia
(Molster, Bauskis, Dawkins) Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia
(Kowal) Alfred Deakin Institute for Citizenship and Globalisation, Deakin University, Melbourne, Australia
(Kowal, Easteal, Massey) National Centre for Indigenous Genomics, Australian National University, Canberra, ACT, Australia
(Savarirayan) Victorian Clinical Genetics Services, Parkville, VIC, Australia
(Savarirayan) Department of Paediatrics, University of Melbourne, Melbourne, VIC 3010, Australia
(Savarirayan) Northern Territory Clinical Genetics Services, Darwin, NT 9000, Australia
(Kelaher) Melbourne School of Population and Global Health, University of Melbourne, Melbourne, VIC 3010, Australia
(Easteal, Massey) John Curtin School of Medical Research, Australian National University, Canberra, Australia
(Garvey) Wellbeing and Preventable Chronic Disease Division, Menzies School of Health Research, Charles Darwin University, Darwin, NT 0811, Australia
(Goldblatt, Pachter) Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia
(Goldblatt, Pachter) School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia
(Pachter) School of Medicine and Pharmacology, University of Western Australia, Perth, WA, Australia
(Weeramanthri) Sir Walter Murdoch School of Public Health and International Affairs, Murdoch University, Perth, WA, Australia
Year
2017
Citation
Advances in Experimental Medicine and Biology. Vol.1031, 2017, pp. 511-520.
Journal
Advances in Experimental Medicine and Biology
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Grant information
No: #1114437 Organisation: (NHMRC) National Health and Medical Research Council Organisation No: 501100000925 Country: Australia
The authors are supported by an NHMRC Partnership Grant (#1114437) and the Lowitja Institute.
The authors are supported by an NHMRC Partnership Grant (#1114437) and the Lowitja Institute.
Abstract
Advances 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.
PubMed ID
29214589 [https://www.ncbi.nlm.nih.gov/pubmed/?term=29214589]
Type
Article
Study type
Review article (e.g. literature review, narrative review)
Subjects
Genetics