Baynam, Gareth

Molster, Caron

Bauskis, Alicia

Kowal, Emma

Savarirayan, Ravi

Kelaher, Margaret

Easteal, Simon

Massey, Libby

Garvey, Gail

Goldblatt, Jack

Pachter, Nicholas

Weeramanthri, Tarun S

Dawkins, Hugh J S

2017-12-07

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.

Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA, Australia. Gareth.Baynam@health.wa.gov.au.. Western Australian Register of Developmental Anomalies, Subiaco, WA, Australia. Gareth.Baynam@health.wa.gov.au.. Undiagnosed Diseases Program, Subiaco, WA, Australia. Gareth.Baynam@health.wa.gov.au..

Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia..

Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia..

Alfred Deakin Institute for Citizenship and Globalisation, Deakin University, Melbourne, Australia.. National Centre for Indigenous Genomics, Australian National University, Canberra, ACT, Australia..

Victorian Clinical Genetics Services, Parkville, VIC, Australia.. Department of Paediatrics, University of Melbourne, Melbourne, VIC, 3010, Australia.. Northern Territory Clinical Genetics Services, NT, Darwin, 9000, Australia..

Melbourne School of Population and Global Health, University of Melbourne, Melbourne, VIC, 3010, Australia..

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

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

Wellbeing and Preventable Chronic Disease Division, Menzies School of Health Research, Charles Darwin University, Darwin, NT, 0811, Australia..

Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia.. School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia..

Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia.. School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia.. School of Medicine and Pharmacology, University of Western Australia, Perth, WA, Australia..

Sir Walter Murdoch School of Public Health and International Affairs, Murdoch University, Perth, Western Australia, Australia..

Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia..

Advances in experimental medicine and biology 2017; 1031: 511-520

0065-2598

https://pubmed.ncbi.nlm.nih.gov/29214589/?otool=iaurydwlib

https://hdl.handle.net/10137/5163

Aboriginal

Equity

Facial

Genetics

Genomics

Indigenous

Innovation

Phenomics

Phenotyping

Indigenous Genetics and Rare Diseases: Harmony, Diversity and Equity.

Journal Article

Publication