Indigenous genetics and rare diseases: Harmony, diversity and equity

Gareth Baynam, Caron Molster, Alicia Bauskis, Emma Kowal, Ravi Savarirayan, Margaret Kelaher, Simon Easteal, Libby Massey, Gail Garvey, Jack Goldblatt, Nicholas Pachter, Tarun S. Weeramanthri, Hugh J.S. Dawkins

Research output: Chapter in Book/Conference paperChapterpeer-review

14 Citations (Web of Science)


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.

Original languageEnglish
Title of host publicationRare Diseases Epidemiology: Update and Overview
EditorsManuel Posada de la Paz, Domenica Taruscio, Stephen C. Groft
Place of PublicationSwitzerland
Number of pages10
ISBN (Electronic)9783319671444
ISBN (Print)9783319671420
Publication statusPublished - 2017

Publication series

NameAdvances in Experimental Medicine and Biology
ISSN (Print)0065-2598
ISSN (Electronic)2214-8019


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