Evidence map›Paper›PMID 32763188›Full record

ArticleAmerican journal of human genetics2020

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

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 and 32 more

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed
5.9field-weighted citation impact, top 3% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

20 citing papers in PubMed, 43 citations in OpenAlex.

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  10. Genomic newborn screening for rare diseases.Nature reviews. Genetics · 2023
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  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

42 authors at 17 institutions in 1 country.

Simon EastealNational Centre for Indigenous Genomics, Australian National University, Canberra, ACT 2600, Australia. Electronic address: simon.easteal@anu.edu.au.
Ruth M ArkellJohn Curtin School of Medical Research, Australian National University, Canberra, ACT 2600, Australia.
Renzo F BalboaNational Centre for Indigenous Genomics, Australian National University, Canberra, ACT 2600, Australia.
Shayne A BellinghamNational Centre for Indigenous Genomics, Australian National University, Canberra, ACT 2600, Australia.
Alex D BrownAboriginal 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 CalmaPoche Centre for Indigenous Health, University of Sydney, Sydney, NSW 2006, Australia.
Matthew C CookDepartment of Immunology, Canberra Hospital, Canberra, ACT 2606, Australia.
Megan DavisUNSW Law, University of New South Wales, Sydney, NSW 2052, Australia.
Hugh J S DawkinsHBF 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 DingerSchool of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, NSW 2052, Australia.
Michael S DobbieNational 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 FarlowNational Centre for Indigenous Genomics, Australian National University, Canberra, ACT 2600, Australia; Melbourne Integrative Genomics, University of Melbourne, Melbourne, VIC 3010, Australia.
Kylie G GwynnePoche Centre for Indigenous Health, University of Sydney, Sydney, NSW 2006, Australia; Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW 2113, Australia.
Azure HermesNational Centre for Indigenous Genomics, Australian National University, Canberra, ACT 2600, Australia.
Wendy E HoyFaculty of Medicine, University of Queensland, Brisbane, QLD 4072, Australia.
Misty R JenkinsImmunology 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 JiangDepartment of Immunology, Canberra Hospital, Canberra, ACT 2606, Australia.
Warren KaplanInformatics, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.
Stephen LeslieNational Centre for Indigenous Genomics, Australian National University, Canberra, ACT 2600, Australia; Melbourne Integrative Genomics, University of Melbourne, Melbourne, VIC 3010, Australia.
Bastien LlamasNational 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 MannJohn Curtin School of Medical Research, Australian National University, Canberra, ACT 2600, Australia.
Brendan J McMorranJohn Curtin School of Medical Research, Australian National University, Canberra, ACT 2600, Australia.
Rebekah E McWhirterCentre for Law and Genetics, Faculty of Law, University of Tasmania, Hobart, TAS 7001, Australia.
Cliff J MeldrumNSW Health Pathology, Sydney, NSW 2065, Australia.
Shivashankar H NagarajInstitute of Health and Biomedical Innovation, Queensland University of Technology, Brisbane, QLD 4000, Australia.
Saul J NewmanBiological Data Science Institute, Australian National University, Canberra, ACT 2600, Australia.
Jack S NunnPublic Health, La Trobe University, Melbourne, VIC 3086, Australia.
Lyndon Ormond-ParkerMelbourne School of Population and Global Health, University of Melbourne, Melbourne, VIC 3010, Australia.
Neil J OrrPoche Centre for Indigenous Health, University of Sydney, Sydney, NSW 2006, Australia.
Devashi PaliwalNational 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 PatelNational Centre for Indigenous Genomics, Australian National University, Canberra, ACT 2600, Australia.
Glenn PearsonAboriginal Health, Telethon Kids Institute, Perth, WA 6009, Australia.
Greg R PrattAboriginal and Torres Strait Islander Health, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia.
Boe RambaldiniPoche Centre for Indigenous Health, University of Sydney, Sydney, NSW 2006, Australia.
Lynette W RussellCentre of Excellence in Australian Biodiversity and Heritage, Monash Indigenous Studies Centre, Monash University, Melbourne, VIC 3800, Australia.
Ravi SavarirayanVictorian Clinical Genetic Services, Murdoch Children's Research Institute, and University of Melbourne, Parkville, VIC 3052, Australia.
Matthew SilcocksNational Centre for Indigenous Genomics, Australian National University, Canberra, ACT 2600, Australia; Melbourne Integrative Genomics, University of Melbourne, Melbourne, VIC 3010, Australia.
John C SkinnerPoche Centre for Indigenous Health, University of Sydney, Sydney, NSW 2006, Australia.
Yassine SouilmiNational 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 VinuesaJohn Curtin School of Medical Research, Australian National University, Canberra, ACT 2600, Australia.
National Centre for Indigenous GenomicsNational Centre for Indigenous Genomics, Australian National University, Canberra, ACT 2600, Australia.
Gareth BaynamGenetic 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.
Australian National University · AUThe University of Sydney · AUCanberra Hospital · AUThe Kids Research Institute Australia · AUThe University of Melbourne · AUUNSW Sydney · AUGarvan Institute of Medical Research · AULa Trobe University · AUMonash University · AUMurdoch University · AUNew South Wales Department of Health · AUQIMR Berghofer Medical Research Institute · AUQueensland University of Technology · AUSouth Australian Health and Medical Research Institute · AUThe University of Queensland · AUUniversity of Tasmania · AUWalter and Eliza Hall Institute of Medical Research · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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.

Indexed as

AustraliaGenetic VariationHumansMetagenomicsPopulation Groups

Identifiers

PMID32763188
PMCPMC7413856
OpenAlexW3046991394

What OpenQuestion holds

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.