Evidence map›Paper›PMID 40559178›Full record

ArticleInternational journal of neonatal screening2025

Informed Consent for Newborn Genomic Screening: Interest-Holder Perspectives on Dynamic Consent in an Evolving Landscape.

Marina Okamura, Emma Minchin, Carolyn Mazariego, Jolyn Hersch, Natalie Taylor, Ilona Juraskova

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of neonatal screening, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. 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

6 authors.

Marina OkamuraSchool of Psychology, The University of Sydney, Sydney, NSW 2006, Australia.ORCID 0009-0003-9872-4292
Emma MinchinSchool of Psychology, The University of Sydney, Sydney, NSW 2006, Australia.ORCID 0009-0008-4396-3428
Carolyn MazariegoImplementation to Impact (i2i), School of Population Health, University of New South Wales, Sydney, NSW 2052, Australia.
Jolyn HerschSchool of Psychology, The University of Sydney, Sydney, NSW 2006, Australia.ORCID 0000-0001-5225-6639
Natalie TaylorImplementation to Impact (i2i), School of Population Health, University of New South Wales, Sydney, NSW 2052, Australia.ORCID 0000-0002-0280-0883
Ilona JuraskovaSchool of Psychology, The University of Sydney, Sydney, NSW 2006, Australia.ORCID 0000-0001-9396-4113

Funding

Medical Research Future Fund (MRFF) MRF2022871Medical Research Future Fund (MRFF) NCRI000135
6 · The paper itself

Abstract

Newborn Bloodspot Screening (NBS) has significantly advanced early disease detection, preventing severe disability and infant mortality. The anticipated integration of genomic technologies into NBS (gNBS) promises earlier diagnosis and targeted treatments. However, it also introduces complexities that necessitate enhanced consent processes. Dynamic Consent Platforms (DCPs), with their layered information and modifiable preferences, may fulfil this rapidly evolving need. This qualitative study explored NBS and genomic interest-holder perspectives on (i) challenges in obtaining informed consent within the current and genomic NBS contexts, and (ii) the acceptability, feasibility, and utility of DCPs for genomics. Sixteen key interest-holders involved in NBS/genomic consent (midwives, genetic counsellors, geneticists, researchers, pathologist, consumer advocate) completed a semi-structured interview. Thematic analysis identified four main themes: (i) looking towards genomic expansions, (ii) systemic issues, (iii) genomic consent information, and (iv) Dynamic Consent Platforms. Participants emphasised revising the timing of consent processes and standardising consent training for clinicians. A nationally standardised DCP was perceived as valuable for addressing consent challenges within gNBS; however, concerns were raised regarding accessibility of online resources for vulnerable populations and integrating DCPs into healthcare systems. Recommendations for future research and clinical implications in this evolving field are discussed.

Indexed as

dynamic consent platformgenomic testinginformed consentnewborn screeningqualitative research

Identifiers

PMID40559178
PMCPMC12193422

What OpenQuestion holds

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LicenceCC BY
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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.