Evidence map›Paper›PMID 41958312›Full record

ArticleThe Medical journal of Australia2026

Genomic Newborn Screening: Verdict From an Australian Citizens' Jury.

Yves Saint James Aquino, Joanne Scarfe, Diana Popic, Lucy Carolan, Chris Degeling, Kathleen Prokopovich, Margaret F A Otlowski, Saniya Singh, Belinda Fabrianesi, Kaustuv Bhattacharya and 10 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in The Medical journal of Australia, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

20 authors.

Yves Saint James AquinoAustralian Centre for Health Engagement, Evidence and Values, University of Wollongong, Wollongong, New South Wales, Australia.ORCID 0000-0003-0981-0029
Joanne ScarfeLeeder Centre for Health Policy, Economics and Data, University of Sydney, Sydney, New South Wales, Australia.
Diana PopicAustralian Centre for Health Engagement, Evidence and Values, University of Wollongong, Wollongong, New South Wales, Australia.
Lucy CarolanAustralian Centre for Health Engagement, Evidence and Values, University of Wollongong, Wollongong, New South Wales, Australia.ORCID 0000-0002-8116-4036
Chris DegelingAustralian Centre for Health Engagement, Evidence and Values, University of Wollongong, Wollongong, New South Wales, Australia.ORCID 0000-0003-4279-3443
Kathleen ProkopovichAustralian Centre for Health Engagement, Evidence and Values, University of Wollongong, Wollongong, New South Wales, Australia.
Margaret F A OtlowskiCentre for Law and Genetics, University of Tasmania, Hobart, Tasmania, Australia.
Saniya SinghAustralian Centre for Health Engagement, Evidence and Values, University of Wollongong, Wollongong, New South Wales, Australia.
Belinda FabrianesiAustralian Centre for Health Engagement, Evidence and Values, University of Wollongong, Wollongong, New South Wales, Australia.ORCID 0000-0001-8134-7900
Kaustuv BhattacharyaGenetic Metabolic Disorders Service, Sydney Children's Hospitals Network, Westmead, New South Wales, Australia.ORCID 0000-0003-0518-5879
Kristi JonesSydney Children's Hospitals Network Randwick and Westmead, Westmead, New South Wales, Australia.
Ainsley J NewsonUniversity of Sydney, Camperdown, New South Wales, Australia.ORCID 0000-0002-3460-772X
Patti ShihAustralian Centre for Health Engagement, Evidence and Values, University of Wollongong, Wollongong, New South Wales, Australia.ORCID 0000-0002-9628-7987
Bruce BennettsSydney Children's Hospitals Network Randwick and Westmead, Westmead, New South Wales, Australia.
Emma FrostUniversity of Wollongong, Wollongong, New South Wales, Australia.ORCID 0000-0002-5893-1399
Zornitza L StarkVictorian Clinical Genetics Services, Melbourne, Victoria, Australia.
Kristen NowakDepartment of Health, Government of Western Australia, Perth, Western Australia, Australia.
Louise HealyRare Voices Australia, Melbourne, Victoria, Australia.
Sarah NorrisLeeder Centre for Health Policy, Economics and Data, University of Sydney, Sydney, New South Wales, Australia.
Stacy M CarterAustralian Centre for Health Engagement, Evidence and Values, University of Wollongong, Wollongong, New South Wales, Australia.ORCID 0000-0003-2617-8694

Funding

NHMRC Medical Research Future Fund MRF2015965
6 · The paper itself

Abstract

objectiveTo support a nationally representative group of Australians to make informed, reasoned recommendations on the use of genomics in newborn screening programmes.

designHybrid Citizens' Jury method. SETTING,

participantsThirty Australian adults recruited by random ballot invitation and stratified selection against population-based demographic targets of age, sex, ancestry, highest level of education, location of residence (state/territory, urban/non-urban), experience of disability and parent/non-parent.

main outcome measuresJury recommendations with reasons.

resultsThe jury made 11 recommendations. The jury agreed whole genome sequencing could be used in the programme, but only if conditions were met regarding national consistency, benefit, Australian Government oversight, consent, reporting to parents, data protection, supporting parents and the healthcare system, and parent and public education. All of these conditions were agreed by consensus, except reporting to parents and parent and public education, where there was a supermajority (24/30) in agreement and minority dissent. The jury were split on Recommendation 11: how much genomic data should be extracted and retained. Nine jurors supported whole genome sequencing only if data extraction and retention were limited to interpretable, actionable genetic information; 21 jurors supported a more expansive approach.

conclusionsTo maintain public trust in Australian newborn screening, programmes should take a more conservative approach to data extraction and storage until concerns are addressed and safeguarding conditions implemented. Jurors' key concerns include identifiability of genomic data, risk of data misuse and potential to undermine trust and participation in newborn screening.

Indexed as

Genetic TestingGenomicsNeonatal ScreeningAdultAustraliaFemaleHumansInfant, NewbornMaleWhole Genome Sequencinggenetic testinghealth policymass screeningpublic healthqualitative research

Identifiers

PMID41958312
PMCPMC13066916

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

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 Socratic graph.