Literature DB >> 29214589

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

Gareth Baynam1,2,3, Caron Molster4, Alicia Bauskis4, Emma Kowal5,6, Ravi Savarirayan7,8,9, Margaret Kelaher10, Simon Easteal11,6, Libby Massey11,6, Gail Garvey12, Jack Goldblatt13,14, Nicholas Pachter13,14,15, Tarun S Weeramanthri16, Hugh J S Dawkins4.   

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.

Entities:  

Keywords:  Aboriginal; Equity; Facial; Genetics; Genomics; Indigenous; Innovation; Phenomics; Phenotyping

Mesh:

Year:  2017        PMID: 29214589     DOI: 10.1007/978-3-319-67144-4_27

Source DB:  PubMed          Journal:  Adv Exp Med Biol        ISSN: 0065-2598            Impact factor:   2.622


  3 in total

1.  "This is my boy's health! Talk straight to me!" perspectives on accessible and culturally safe care among Aboriginal and Torres Strait Islander patients of clinical genetics services.

Authors:  Philippa Dalach; Ravi Savarirayan; Gareth Baynam; Julie McGaughran; Emma Kowal; Libby Massey; Misty Jenkins; Yin Paradies; Margaret Kelaher
Journal:  Int J Equity Health       Date:  2021-04-17

2.  Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data.

Authors:  Simon Easteal; Ruth M Arkell; Renzo F Balboa; Shayne A Bellingham; Alex D Brown; Tom Calma; Matthew C Cook; Megan Davis; Hugh J S Dawkins; Marcel E Dinger; Michael S Dobbie; Ashley Farlow; Kylie G Gwynne; Azure Hermes; Wendy E Hoy; Misty R Jenkins; Simon H Jiang; Warren Kaplan; Stephen Leslie; Bastien Llamas; Graham J Mann; Brendan J McMorran; Rebekah E McWhirter; Cliff J Meldrum; Shivashankar H Nagaraj; Saul J Newman; Jack S Nunn; Lyndon Ormond-Parker; Neil J Orr; Devashi Paliwal; Hardip R Patel; Glenn Pearson; Greg R Pratt; Boe Rambaldini; Lynette W Russell; Ravi Savarirayan; Matthew Silcocks; John C Skinner; Yassine Souilmi; Carola G Vinuesa; Gareth Baynam
Journal:  Am J Hum Genet       Date:  2020-08-06       Impact factor: 11.025

3.  Reference exome data for Australian Aboriginal populations to support health-based research.

Authors:  Jenefer M Blackwell; Timo Lassmann; Alexia L Weeks; Heather A D'Antoine; Melita McKinnon; Genevieve Syn; Dawn Bessarab; Ngiare Brown; Steven Y C Tong; Bo Reményi; Andrew Steer; Lesley-Ann Gray; Michael Inouye; Jonathan R Carapetis
Journal:  Sci Data       Date:  2020-04-29       Impact factor: 6.444

  3 in total

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