Evidence map›Paper›PMID 38248635›Full record

ArticleInternational journal of neonatal screening2024

Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation.

Fiona Lynch, Stephanie Best, Clara Gaff, Lilian Downie, Alison D Archibald, Christopher Gyngell, Ilias Goranitis, Riccarda Peters, Julian Savulescu, Sebastian Lunke and 2 more

Open access · goldAbstract read
In one paragraph

Article in International journal of neonatal screening, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.

0numbers the graph read from it
0cells of the map it votes in
29citing papers in PubMed
21.5field-weighted citation impact, top 1% 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

29 citing papers in PubMed, 39 citations in OpenAlex.

  1. Article
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  9. Review
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  11. Article
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  13. Article
  14. Genomic Screening Consortium for Australian Newborns (GenSCAN).Journal of paediatrics and child health · 2025
    Review
  15. Article
  16. Data-driven consideration of genetic disorders for global genomic newborn screening programs.Genetics in medicine : official journal of the American College of Medical Genetics · 2025
    Article
  17. Article
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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

12 authors at 1 institution in 3 countries.

Fiona LynchBiomedical Ethics Research Group, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.ORCID 0000-0002-6386-6739
Stephanie BestSir Peter MacCallum Cancer Centre Department of Oncology, University of Melbourne, Melbourne, VIC 3052, Australia.
Clara GaffMurdoch Children's Research Institute, Parkville, VIC 3052, Australia.
Lilian DownieMurdoch Children's Research Institute, Parkville, VIC 3052, Australia.
Alison D ArchibaldMurdoch Children's Research Institute, Parkville, VIC 3052, Australia.ORCID 0000-0002-4496-8262
Christopher GyngellBiomedical Ethics Research Group, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.
Ilias GoranitisAustralian Genomics, Melbourne, VIC 3052, Australia.
Riccarda PetersMelbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC 3052, Australia.
Julian SavulescuBiomedical Ethics Research Group, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.
Sebastian LunkeVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.
Zornitza StarkAustralian Genomics, Melbourne, VIC 3052, Australia.ORCID 0000-0001-8640-1371
Danya F VearsBiomedical Ethics Research Group, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.ORCID 0000-0002-6290-545X
The University of Melbourne · AU

Funding

Wellcome Trust
6 · The paper itself

Abstract

Recent dramatic reductions in the timeframe in which genomic sequencing can deliver results means its application in time-sensitive screening programs such as newborn screening (NBS) is becoming a reality. As genomic NBS (gNBS) programs are developed around the world, there is an increasing need to address the ethical and social issues that such initiatives raise. This study therefore aimed to explore the Australian public's perspectives and values regarding key gNBS characteristics and preferences for service delivery. We recruited English-speaking members of the Australian public over 18 years of age via social media; 75 people aged 23-72 participated in 1 of 15 focus groups. Participants were generally supportive of introducing genomic sequencing into newborn screening, with several stating that the adoption of such revolutionary and beneficial technology was a moral obligation. Participants consistently highlighted receiving an early diagnosis as the leading benefit, which was frequently linked to the potential for early treatment and intervention, or access to other forms of assistance, such as peer support. Informing parents about the test during pregnancy was considered important. This study provides insights into the Australian public's views and preferences to inform the delivery of a gNBS program in the Australian context.

Indexed as

bioethicsgenomic sequencingnewborn screeningpublic viewsqualitative

Identifiers

PMID38248635
PMCPMC10801595
OpenAlexW4390941973

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.