Evidence map›Paper›PMID 24549052›Full record

ArticleEuropean journal of human genetics : EJHG2014

Public views on participating in newborn screening using genome sequencing.

Yvonne Bombard, Fiona A Miller, Robin Z Hayeems, Carolyn Barg, Celine Cressman, June C Carroll, Brenda J Wilson, Julian Little, Denise Avard, Michael Painter-Main and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in European journal of human genetics : EJHG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
41citing papers in PubMed, 3 pooled it
–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

41 citing papers in PubMed, 3 syntheses or guidelines pooled it.

  1. Pooled it
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  15. 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
  16. Article
  17. Article
  18. Article
  19. Perception of genomic newborn screening among peripartum mothers.European journal of human genetics : EJHG · 2024
    Article
  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

13 authors.

Yvonne Bombard1] Li Ka Shing Knowledge Institute, St. Michael's Hospital, Toronto, Ontario, Canada [2] Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.
Fiona A MillerInstitute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.
Robin Z HayeemsInstitute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.
Carolyn BargInstitute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.
Celine CressmanInstitute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.
June C CarrollDepartment of Family and Community Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
Brenda J WilsonDepartment of Epidemiology and Community Medicine, University of Ottawa, Toronto, Ontario, Canada.
Julian LittleDepartment of Epidemiology and Community Medicine, University of Ottawa, Toronto, Ontario, Canada.
Denise AvardCentre for Genomics and Policy, Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
Michael Painter-MainDepartment of Political Science, University of Toronto, Toronto, Ontario, Canada.
Judith Allanson1] Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada [2] Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada.
Yves Giguere1] Quebec Blood Newborn Screening Program, Department of Medical Biology, CHU de Quebec, Charlesbourg, Quebec, Canada [2] Department of Molecular Biology, Medical Biochemistry and Pathology, University of Laval, Quebec, Quebec, Canada.
Pranesh Chakraborty1] Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada [2] Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

Funding

Canadian Institutes of Health Research
6 · The paper itself

Abstract

Growing discussion on the use of whole-genome or exome sequencing (WG/ES) in newborn screening (NBS) has raised concerns regarding the generation of incidental information on millions of infants annually. It is unknown whether integrating WG/ES would alter public expectations regarding participation in universal NBS. We assessed public willingness to participate in NBS using WG/ES compared with current NBS. Our secondary objective was to assess the public's beliefs regarding a parental responsibility to participate in WG/ES-based NBS compared with current NBS. We examined self-reported attitudes regarding willingness to participate in NBS using a cross-sectional national survey of Canadian residents recruited through an internet panel, reflective of the Canadian population by age, gender and region. Our results showed that fewer respondents would be willing to participate in NBS using WG/ES compared with NBS using current technologies (80 vs 94%, P<0.001), or perceived a parental responsibility to participate in WG/ES-based NBS vs current NBS (30 vs 48%, P<0.001). Our findings suggest that integrating WG/ES into NBS might reduce participation, and challenge the moral authority that NBS programmes rely upon to ensure population benefits. These findings point to the need for caution in the untargeted use of WG/ES in public health contexts.

Indexed as

Health Knowledge, Attitudes, PracticePublic OpinionAdolescentAdultCanadaCross-Sectional StudiesExomeFemaleGenetic TestingGenome, HumanHumansInfant, NewbornInternetMaleMiddle AgedNeonatal Screening

Identifiers

PMID24549052
PMCPMC4200434

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.