Evidence map›Paper›PMID 41690964›Full record

ArticleNPJ genomic medicine2026

Supporting decisions about genomic newborn screening at scale in the digital age: the BabyScreen+ study.

Lilian Downie, Jade Caruana, Nathasha Kugenthiran, Anaita Kanga-Parabia, Erin Tutty, Yvonne Bombard, Marc Clausen, Sophie Bouffler, Clara Gaff, Alison D Archibald and 2 more

Abstract read
In one paragraph

Article in NPJ genomic medicine, 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

12 authors.

Lilian DownieVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.
Jade CaruanaMurdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.
Nathasha KugenthiranMurdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.
Anaita Kanga-ParabiaMurdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.
Erin TuttyMurdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.
Yvonne BombardGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.
Marc ClausenGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.
Sophie BoufflerMurdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.
Clara GaffMurdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.
Alison D ArchibaldMurdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.
Sebastian LunkeVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.
Zornitza StarkVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia. zornitza.stark@vcgs.org.au.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Digital platforms hold promise to scale implementation of population screening. We tailored the Genetics Adviser platform to provide education, decision support, consent, and result return in a genomic newborn screening (gNBS) study, BabyScreen + . Participants were surveyed and interviewed on the usability and value of Genetics Adviser. Genetics Adviser was used by 1048 participants and 1007 (96%) provided feedback. The majority (96%, n = 963) found the platform easy to navigate, with 85% (n = 851) spending <20 min online. Participants demonstrated excellent understanding, over 80% answering at least 6/8 knowledge questions correctly. Only 7% (12/173) of participant-initiated contacts with the study team were for genetic counselling. Interview participants valued the online process. We demonstrate the successful use of a digital platform for a genomic screening program. This model is streamlined, providing consistent, user-friendly education to support decision-making with minimal input from healthcare practitioners. Further evaluation in diverse populations will be essential for future use.

Identifiers

PMID41690964
PMCPMC13018646

What OpenQuestion holds

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LicenceCC BY-NC-ND
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Registered trials

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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.