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

Australia Genetic Variation / genetics Humans Metagenomics / methods Population Groups / genetics

Journal

American journal of human genetics
ISSN: 1537-6605
Titre abrégé: Am J Hum Genet
Pays: United States
ID NLM: 0370475

Informations de publication

Date de publication:
06 08 2020
Historique:
entrez: 9 8 2020
pubmed: 9 8 2020
medline: 21 10 2020
Statut: ppublish

Résumé

Expanded carrier screening (ECS) for recessive monogenic diseases requires prior knowledge of genomic variation, including DNA variants that cause disease. The composition of pathogenic variants differs greatly among human populations, but historically, research about monogenic diseases has focused mainly on people with European ancestry. By comparison, less is known about pathogenic DNA variants in people from other parts of the world. Consequently, inclusion of currently underrepresented Indigenous and other minority population groups in genomic research is essential to enable equitable outcomes in ECS and other areas of genomic medicine. Here, we discuss this issue in relation to the implementation of ECS in Australia, which is currently being evaluated as part of the national Government's Genomics Health Futures Mission. We argue that significant effort is required to build an evidence base and genomic reference data so that ECS can bring significant clinical benefit for many Aboriginal and/or Torres Strait Islander Australians. These efforts are essential steps to achieving the Australian Government's objectives and its commitment "to leveraging the benefits of genomics in the health system for all Australians." They require culturally safe, community-led research and community involvement embedded within national health and medical genomics programs to ensure that new knowledge is integrated into medicine and health services in ways that address the specific and articulated cultural and health needs of Indigenous people. Until this occurs, people who do not have European ancestry are at risk of being, in relative terms, further disadvantaged.

Identifiants

DOI: 10.1016/j.ajhg.2020.06.005 PMID: 32763188 PMC: PMC7413856
pubmed: 32763188
pii: S0002-9297(20)30193-2
doi: 10.1016/j.ajhg.2020.06.005
pmc: PMC7413856
pii:
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

175-182

Informations de copyright

Copyright © 2020 American Society of Human Genetics. All rights reserved.

Références

Hum Genet. 2013 Oct;132(10):1077-130
pubmed: 23820649
Am J Hum Genet. 2019 Feb 7;104(2):275-286
pubmed: 30665703
Am J Med Genet A. 2015 Jul;167(7):1659-67
pubmed: 25851998
Nucleic Acids Res. 2020 Jan 8;48(D1):D977-D982
pubmed: 31642469
Nat Biotechnol. 2016 May;34(5):531-8
pubmed: 27065010
Genet Med. 2013 Jun;15(6):482-3
pubmed: 23619275
Nature. 2017 Jul 19;547(7663):306-310
pubmed: 28726833
Obstet Gynecol. 2017 Aug;130(2):279-284
pubmed: 28697118
J Community Genet. 2020 Jan;11(1):21-38
pubmed: 31828606
J Paediatr Child Health. 2015 Mar;51(3):271-9
pubmed: 24923490
Genet Med. 2019 Sep;21(9):1940-1947
pubmed: 30846881
Aust J Gen Pract. 2019 Mar;48(3):106-110
pubmed: 31256466
N Z Med J. 2018 Aug 17;131(1480):8-10
pubmed: 30116058
Eur J Obstet Gynecol Reprod Biol. 2018 Nov;230:41-54
pubmed: 30240948
Nat Rev Genet. 2009 Sep;10(9):639-50
pubmed: 19687804
Genet Med. 2020 Mar;22(3):646-653
pubmed: 31624327
Urol Oncol. 2020 Mar;38(3):80.e1-80.e7
pubmed: 31630993
Clin Transl Sci. 2018 Jan;11(1):11-20
pubmed: 28796411
Orphanet J Rare Dis. 2016 Jun 11;11(1):77
pubmed: 27287197
Bioethics. 2019 Jun;33(5):568-576
pubmed: 30734373
Genet Med. 2017 Feb;19(2):192-203
pubmed: 27532257
PLoS One. 2019 Mar 11;14(3):e0212953
pubmed: 30856185
Nucleic Acids Res. 2017 Jan 4;45(D1):D840-D845
pubmed: 27899611
J Mol Diagn. 2016 Jan;18(1):39-50
pubmed: 26708955
Nat Rev Genet. 2015 Dec;16(12):689-701
pubmed: 26503796
Nat Rev Genet. 2020 Jun;21(6):377-384
pubmed: 32251390
Obstet Gynecol Clin North Am. 2018 Mar;45(1):103-112
pubmed: 29428278
Nature. 2016 Oct 13;538(7624):201-206
pubmed: 27654912
Mol Genet Genomic Med. 2019 Aug;7(8):e836
pubmed: 31293106
Nat Genet. 2019 Apr;51(4):584-591
pubmed: 30926966
Nat Rev Genet. 2019 Sep;20(9):520-535
pubmed: 31235872
Nat Rev Genet. 2019 Sep;20(9):549-561
pubmed: 31142809
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Gene. 2014 May 1;540(2):183-90
pubmed: 24583165
Med J Aust. 2014 Jun 16;200(11):649-52
pubmed: 24938346
Genet Med. 2019 Apr;21(4):790-797
pubmed: 30245516
Am J Hum Genet. 2017 May 4;100(5):695-705
pubmed: 28475856
Adv Exp Med Biol. 2017;1031:511-520
pubmed: 29214589
Am J Med Genet A. 2016 Oct;170(10):2596-604
pubmed: 27155200
Nature. 2020 Jan;577(7789):179-189
pubmed: 31915397
N Engl J Med. 2016 Aug 18;375(7):655-65
pubmed: 27532831
Pediatr Pulmonol. 2017 Mar;52(3):E11-E14
pubmed: 27717243
CMAJ. 2008 Nov 4;179(10):985-6
pubmed: 18981431
Obstet Gynecol Clin North Am. 2018 Mar;45(1):83-101
pubmed: 29428288
Aust Health Rev. 2019 Jul;43(3):314-322
pubmed: 29335090
Fam Cancer. 2019 Oct;18(4):465-469
pubmed: 31531760
Semin Perinatol. 2018 Aug;42(5):303-306
pubmed: 30241949
Eur J Hum Genet. 2020 Feb;28(2):165-173
pubmed: 31527858
Hum Genomics. 2019 Sep 25;14(1):52
pubmed: 31554517
Cell. 2019 Mar 21;177(1):26-31
pubmed: 30901543
Nat Commun. 2018 Jul 27;9(1):2957
pubmed: 30054469
J Community Genet. 2017 Oct;8(4):255-266
pubmed: 28770442
Eur J Hum Genet. 2016 Jan;25(1):17-21
pubmed: 27677414
Nat Rev Drug Discov. 2020 Feb;19(2):77-78
pubmed: 32020066
Genet Med. 2018 Jun;20(6):574-582
pubmed: 29240076
Genet Res (Camb). 2019 Mar 26;101:e5
pubmed: 30912487
Ethn Dis. 2019 Feb 21;29(Suppl 1):179-186
pubmed: 30906167

Auteurs

Simon Easteal (S)

National Centre for Indigenous Genomics, Australian National University, Canberra, ACT 2600, Australia. Electronic address: simon.easteal@anu.edu.au.

Ruth M Arkell (RM)

John Curtin School of Medical Research, Australian National University, Canberra, ACT 2600, Australia.

Renzo F Balboa (RF)

National Centre for Indigenous Genomics, Australian National University, Canberra, ACT 2600, Australia.

Shayne A Bellingham (SA)

National Centre for Indigenous Genomics, Australian National University, Canberra, ACT 2600, Australia.

Alex D Brown (AD)

Aboriginal Health Equity, South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia; Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5005, Australia.

Tom Calma (T)

Poche Centre for Indigenous Health, University of Sydney, Sydney, NSW 2006, Australia.

Matthew C Cook (MC)

Department of Immunology, Canberra Hospital, Canberra, ACT 2606, Australia.

Megan Davis (M)

UNSW Law, University of New South Wales, Sydney, NSW 2052, Australia.

Hugh J S Dawkins (HJS)

HBF Health Limited, Perth, WA 6000, Australia; School of Medicine, The University of Notre Dame Australia, Sydney, NSW 2010, Australia; Sir Walter Murdoch School of Policy and International Affairs, Murdoch University, Murdoch, WA 6150, Australia; Division of Genetics, School of Biomedical Sciences, University of Western Australia, Nedlands, WA 6008, Australia; Centre for Population Health Research, Curtin University of Technology, Bentley, WA 6102, Australia.

Marcel E Dinger (ME)

School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, NSW 2052, Australia.

Michael S Dobbie (MS)

National Centre for Indigenous Genomics, Australian National University, Canberra, ACT 2600, Australia; John Curtin School of Medical Research, Australian National University, Canberra, ACT 2600, Australia.

Ashley Farlow (A)

National Centre for Indigenous Genomics, Australian National University, Canberra, ACT 2600, Australia; Melbourne Integrative Genomics, University of Melbourne, Melbourne, VIC 3010, Australia.

Kylie G Gwynne (KG)

Poche Centre for Indigenous Health, University of Sydney, Sydney, NSW 2006, Australia; Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW 2113, Australia.

Azure Hermes (A)

National Centre for Indigenous Genomics, Australian National University, Canberra, ACT 2600, Australia.

Wendy E Hoy (WE)

Faculty of Medicine, University of Queensland, Brisbane, QLD 4072, Australia.

Misty R Jenkins (MR)

Immunology Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; La Trobe Institute of Molecular Science, La Trobe University, Bundoora, VIC 3086, Australia.

Simon H Jiang (SH)

Department of Immunology, Canberra Hospital, Canberra, ACT 2606, Australia.

Warren Kaplan (W)

Informatics, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.

Stephen Leslie (S)

National Centre for Indigenous Genomics, Australian National University, Canberra, ACT 2600, Australia; Melbourne Integrative Genomics, University of Melbourne, Melbourne, VIC 3010, Australia.

Bastien Llamas (B)

National Centre for Indigenous Genomics, Australian National University, Canberra, ACT 2600, Australia; Centre of Excellence in Australian Biodiversity and Heritage, School of Biological Sciences, The Environment Institute, University of Adelaide, Adelaide, SA 5005, Australia.

Graham J Mann (GJ)

John Curtin School of Medical Research, Australian National University, Canberra, ACT 2600, Australia.

Brendan J McMorran (BJ)

John Curtin School of Medical Research, Australian National University, Canberra, ACT 2600, Australia.

Rebekah E McWhirter (RE)

Centre for Law and Genetics, Faculty of Law, University of Tasmania, Hobart, TAS 7001, Australia.

Cliff J Meldrum (CJ)

NSW Health Pathology, Sydney, NSW 2065, Australia.

Shivashankar H Nagaraj (SH)

Institute of Health and Biomedical Innovation, Queensland University of Technology, Brisbane, QLD 4000, Australia.

Saul J Newman (SJ)

Biological Data Science Institute, Australian National University, Canberra, ACT 2600, Australia.

Jack S Nunn (JS)

Public Health, La Trobe University, Melbourne, VIC 3086, Australia.

Lyndon Ormond-Parker (L)

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

Neil J Orr (NJ)

Poche Centre for Indigenous Health, University of Sydney, Sydney, NSW 2006, Australia.

Devashi Paliwal (D)

National Centre for Indigenous Genomics, Australian National University, Canberra, ACT 2600, Australia; John Curtin School of Medical Research, Australian National University, Canberra, ACT 2600, Australia.

Hardip R Patel (HR)

National Centre for Indigenous Genomics, Australian National University, Canberra, ACT 2600, Australia.

Glenn Pearson (G)

Aboriginal Health, Telethon Kids Institute, Perth, WA 6009, Australia.

Greg R Pratt (GR)

Aboriginal and Torres Strait Islander Health, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia.

Boe Rambaldini (B)

Poche Centre for Indigenous Health, University of Sydney, Sydney, NSW 2006, Australia.

Lynette W Russell (LW)

Centre of Excellence in Australian Biodiversity and Heritage, Monash Indigenous Studies Centre, Monash University, Melbourne, VIC 3800, Australia.

Ravi Savarirayan (R)

Victorian Clinical Genetic Services, Murdoch Children's Research Institute, and University of Melbourne, Parkville, VIC 3052, Australia.

Matthew Silcocks (M)

National Centre for Indigenous Genomics, Australian National University, Canberra, ACT 2600, Australia; Melbourne Integrative Genomics, University of Melbourne, Melbourne, VIC 3010, Australia.

John C Skinner (JC)

Poche Centre for Indigenous Health, University of Sydney, Sydney, NSW 2006, Australia.

Yassine Souilmi (Y)

National Centre for Indigenous Genomics, Australian National University, Canberra, ACT 2600, Australia; School of Biological Sciences, The Environment Institute, University of Adelaide, Adelaide, SA 5005, Australia.

Carola G Vinuesa (CG)

John Curtin School of Medical Research, Australian National University, Canberra, ACT 2600, Australia.
National Centre for Indigenous Genomics, Australian National University, Canberra, ACT 2600, Australia.

Gareth Baynam (G)

Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA 6004, Australia; The Western Australian Register of Developmental Anomalies, Department of Health, Government of Western Australia, Perth, WA 6004, Australia; School of Medicine, Division of Paediatrics and Telethon Kids Institute, University of Western Australia, Perth, WA 6009, Australia. Electronic address: gareth.baynam@health.wa.gov.au.

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Classifications MeSH

questionsmedicales.fr › Régions géographiques › Océanie › Australasie › Australie › Equitable Expanded Carrier Screening Needs...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Equitable Expanded Carrier Screening Needs...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Equitable Expanded Carrier Screening Needs...
questionsmedicales.fr › Disciplines des sciences naturelles › Disciplines des sciences biologiques › Biologie › Génétique › Génomique › Métagénomique › Equitable Expanded Carrier Screening Needs...
questionsmedicales.fr › Caractéristiques de la population › Groupes de population › Equitable Expanded Carrier Screening Needs...