Evidence map›Paper›PMID 38898121›Full record

ArticleNature medicine2024

Exploring the benefits, harms and costs of genomic newborn screening for rare diseases.

Emma L Baple, Richard H Scott, Siddharth Banka, James Buchanan, Louise Fish, Sarah Wynn, Dominic Wilkinson, Sian Ellard, Daniel G MacArthur, Zornitza Stark

Abstract read
PubMed Publisher
In one paragraph

Article in Nature medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.

0numbers the graph read from it
0cells of the map it votes in
30citing 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

30 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. A Phenotypic Paradigm for Cerebral Palsy Genetics.medRxiv : the preprint server for health sciences · 2026
    Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Review
  17. Article
  18. Article
  19. Genomic Screening Consortium for Australian Newborns (GenSCAN).Journal of paediatrics and child health · 2025
    Review
  20. 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

10 authors.

Emma L BapleRILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK. ebaple@nhs.net.ORCID 0000-0002-6637-3411
Richard H ScottGreat Ormond Street Hospital for Children, London, UK. richard.scott@genomicsengland.co.uk.
Siddharth BankaDivision of Evolution, Infection and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK.ORCID 0000-0002-8527-2210
James BuchananHealth Economics and Policy Research Unit, Wolfson Institute of Population Health, Queen Mary University of London, London, UK.ORCID 0000-0003-2528-0638
Louise FishGenetic Alliance UK, London, UK.
Sarah WynnUnique-Rare Chromosome Disorder Support Group, Oxted, UK.ORCID 0000-0001-6531-8181
Dominic WilkinsonFaculty of Philosophy, Oxford Uehiro Centre for Practical Ethics, University of Oxford, Oxford, UK.ORCID 0000-0003-3958-8633
Sian EllardExeter Genomics Laboratory, South West Genomic Laboratory Hub, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.
Daniel G MacArthurCentre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, 384 Victoria Street, Sydney, New South Wales, Australia.
Zornitza StarkMurdoch Children's Research Institute, Melbourne, Victoria, Australia. zornitza.stark@vcgs.org.au.ORCID 0000-0001-8640-1371

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

GenomicsNeonatal ScreeningRare DiseasesCost-Benefit AnalysisGenetic TestingHumansInfant, Newborn

Identifiers

What OpenQuestion holds

Textmetadata
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.