Evidence map›Paper›PMID 40616503›Full record

ReviewJournal of paediatrics and child health2025

Genomic Screening Consortium for Australian Newborns (GenSCAN).

Natalie Taylor, Michelle Pirreca, Bruce Bennetts, Gladys Ho, Kirsten Boggs, Karin S Kassahn, Lucy Anastasi, David Eugeny Godler, Mohammed Alshawsh, Sarah Norris and 9 more

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Journal of paediatrics and child health, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Article
  6. Genomic Screening Consortium for Australian Newborns (GenSCAN).Journal of paediatrics and child health · 2025
    Review
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

19 authors.

Natalie TaylorSchool of Population Health, Faculty of Medicine and Health, UNSW, Sydney, New South Wales, Australia.
Michelle PirrecaSydney Genome Diagnostics, Western Sydney Genetics Program, Sydney Children's Hospitals Network, Westmead, New South Wales, Australia.
Bruce BennettsSydney Genome Diagnostics, Western Sydney Genetics Program, Sydney Children's Hospitals Network, Westmead, New South Wales, Australia.
Gladys HoSydney Genome Diagnostics, Western Sydney Genetics Program, Sydney Children's Hospitals Network, Westmead, New South Wales, Australia.
Kirsten BoggsAustralian Genomics, Melbourne, Australia.
Karin S KassahnDepartment of Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.
Lucy AnastasiDepartment of Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.
David Eugeny GodlerMurdoch Children's Research Institute, Parkville, Victoria, Australia.
Mohammed AlshawshMurdoch Children's Research Institute, Parkville, Victoria, Australia.ORCID 0000-0001-8342-5183
Sarah NorrisThe University of Sydney, Faculty of Medicine and Health, Sydney School of Public Health, The Leeder Centre for Health Policy, Economics and Data, Sydney, New South Wales, Australia.
Joanne ScarfeThe University of Sydney, Faculty of Medicine and Health, Sydney School of Public Health, The Leeder Centre for Health Policy, Economics and Data, Sydney, New South Wales, Australia.
Tiffany BoughtwoodAustralian Genomics, Melbourne, Australia.
Gareth BaynamRare Care Centre, Perth Children's Hospital, Western Australia, Australia; Undiagnosed Diseases Program-WA, Genetic Health Services WA, King Edward Memorial Hospital, Perth, Western Australia, Australia.
Belinda BurnsOffice of Population Health Genomics, Western Australian Department of Health, Perth, Western Australia, Australia.
Enzo RanieriNSW Newborn Screening Programme, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.
Jade CaruanaMurdoch Children's Research Institute, Parkville, Victoria, Australia.
Sebastian LunkeMurdoch Children's Research Institute, Parkville, Victoria, Australia.
Stephanie BestMelbourne School of Health Sciences, University of Melbourne, Melbourne, Australia.
Zornitza StarkAustralian Genomics, Melbourne, Australia.ORCID 0000-0001-8640-1371

Funding

Financial Markets Foundation for ChildrenGenomics Health Futures MissionMedical Research Futures FundNational Health and Medical Research CouncilState Government of VictoriaVictorian Medical Research Acceleration Fund
6 · The paper itself

Abstract

backgroundUsing genomic sequencing technology at population scale as a screening test holds the promise of improving outcomes for individuals with rare diseases through early detection and timely access to precision medicine. However, the incorporation of genomics into established newborn screening programmes raises many challenges, ranging from technical feasibility and scalability through to ethical concerns regarding consent and data management. Empirical evidence and implementation experience from large-scale studies are required to guide future policy.

methodsWe provide a narrative summary of genomic newborn screening studies currently underway in Australia.

findingsWe summarise six research studies currently underway in Australia, which explore the application of genomic technologies in the newborn screening context. These studies have taken varying approaches to generating evidence about the implementation of genomic newborn screening and have formed a national consortium, the Genomic Screening Consortium for Australian Newborns (GenSCAN), with the aim of sharing experiences and enabling collective learning.

conclusionsOver the next decade, we can expect substantial evidence to be generated nationally and internationally to inform future policy decisions on whether to incorporate genomic sequencing into newborn screening programmes.

Indexed as

Genetic TestingGenomicsNeonatal ScreeningAustraliaHumansInfant, Newborngeneticsgenomicsneonatologynewborn screeningrare disease

Identifiers

PMID40616503
PMCPMC12455545

What OpenQuestion holds

Textmetadata
LicenceCC BY
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 OpenQuestion graph.