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Indigenous genetics and rare diseases: harmony, diversity and equity
chapter
posted on 2017-01-01, 00:00 authored by G Baynam, C Molster, A Bauskis, Emma KowalEmma Kowal, R Savarirayan, M Kelaher, S Easteal, L Massey, G Garvey, J Goldblatt, N Pachter, T S Weeramanthri, H J S DawkinsAdvances 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.
History
Title of book
Rare diseases epidemiology: update and overviewVolume
1031Series
Advances in experimental medicine and biologyChapter number
27Pagination
511 - 520Publisher
SpringerPlace of publication
Cham, SwitzerlandPublisher DOI
ISSN
0065-2598eISSN
2214-8019ISBN-13
978-3-319-67142-0Indigenous content
This research output may contain the names and images of Aboriginal and Torres Strait Islander people now deceased. We apologise for any distress that may occur.Language
engPublication classification
B1 Book chapterCopyright notice
2017, Springer International Publishing AGExtent
34Editor/Contributor(s)
M Posada de la Paz, D Taruscio, S GroftUsage metrics
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No categories selectedKeywords
AboriginalEquityFacialGeneticsGenomicsIndigenousInnovationPhenomicsPhenotypingepidemiologygenotype-phenotype correlationnext generation sequencingorphan drugsrare diseasesScience & TechnologyLife Sciences & BiomedicinePublic, Environmental & Occupational HealthMedicine, Research & ExperimentalResearch & Experimental Medicine
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