Evidence map›Paper›PMID 40258355›Full record

ArticlePublic health genomics2025

Age-Based Genomic Screening: Pediatric Providers' Perspectives on Implementation.

Margaret Waltz, Ann Katherine M Foreman, Rebecca A Gibson, Samantha Schilling, Laura V Milko, Rachel Phillips, Julianne M O'Daniel, Stefanija Giric, Kimberly Foss, Elizabeth K Branch and 6 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Public health genomics, 2025. 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

16 authors.

Margaret WaltzCenter for Bioethics and Department of Social Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Ann Katherine M ForemanDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Rebecca A GibsonDivision of General Pediatrics and Adolescent Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Samantha SchillingDivision of General Pediatrics and Adolescent Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Laura V MilkoDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Rachel PhillipsDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Julianne M O'DanielDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Stefanija GiricDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Kimberly FossDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Elizabeth K BranchSchool of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Neal A DeJongDivision of General Pediatrics and Adolescent Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Michelle L HernandezDivision of Allergy and Immunology, Department of Pediatrics, Children's Research Institute, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Bradford C PowellDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Jonathan S BergDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
R Jean CadiganCenter for Bioethics and Department of Social Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Megan C RobertsDivision of Pharmaceutical Outcomes and Policy, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

Funding

Age-based genomic screening in newborns, infants, and children: a novel paradigm in public health genomicsR01HG012271 · UNIV OF NORTH CAROLINA CHAPEL HILL · 2025 to 2025
$866k
NHGRI NIH HHS R01 HG012271NHGRI NIH HHS U01 HG006487
6 · The paper itself

Abstract

introductionAs genomic technologies and therapies advance, paired with increasing clinical knowledge and declining sequencing cost, the scope of DNA-based preventive pediatric screening is expected to expand. Age-Based Genomic Screening (ABGS) is an approach that proposes to integrate targeted genomic sequencing for highly actionable genetic conditions into routine well-child care at specific time points aligned with optimal interventions. Prior to the clinical implementation of ABGS in pediatric primary care, however, it is necessary to investigate the factors that may affect its adoption.

methodsWe conducted 20 interviews with providers from 11 clinics across North Carolina. Interviews lasted approximately 45 min, and rapid qualitative analysis was conducted using an analytic matrix.

resultsInterviewees stated that, in general, implementation of ABGS would be feasible but identified several barriers, including providers' potential discomfort discussing genomic screening and returning results as well as broader concerns about the potential to exacerbate health disparities. Providers also noted potential challenges affecting interest from patients and families, such as caregiver anxiety while awaiting results, patient apprehension regarding invasive sample collection methods (like blood draws), and a general lack of trust in government and medical institutions.

conclusionWhile ABGS was viewed as feasible, the identified barriers emphasize the importance of piloting this approach, particularly in terms of potential exacerbation of health disparities. These findings are useful to guide early development and assessment of efforts like ABGS and may also be applicable to broader integration of genomic screening into primary care.

Indexed as

Attitude of Health PersonnelGenetic TestingGenomicsHealth PersonnelPediatricsAdultAge FactorsChildFemaleHumansMaleNorth CarolinaActionable conditionsAgeGenetic screeningInterviewsPediatrics

Identifiers

PMID40258355
PMCPMC12133400

What Socratic holds

Textmetadata
LicenceTDM
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 Socratic graph.