Evidence map›Paper›PMID 40747515›Full record

ArticleGenetics in medicine open2025

When families bridge the research-clinical divide: An exploration of values regarding cascade screening in genomic research.

Katherine E Bonini, Lauren R Desrosiers-Battu, Ann Katherine M Foreman, Nuriye N Sahin-Hodoglugil, Mary A Majumder, Candice R Finnila, Stephanie A Kraft, Laura M Amendola, Eimear E Kenny, Stephanie M Fullerton and 4 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genetics in medicine open, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

14 authors.

Katherine E BoniniInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY.
Lauren R Desrosiers-BattuDepartment of Pediatrics, Baylor College of Medicine, Texas Children's Cancer Center, Texas Children's Hospital, Houston, TX.
Ann Katherine M ForemanDepartment of Genetics, University of North Carolina, Chapel Hill, NC.
Nuriye N Sahin-HodoglugilDepartment of Obstetrics, Gynecology and Reproductive Sciences, University of California, San Francisco.
Mary A MajumderCenter for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX.
Candice R FinnilaHudsonAlpha Institute for Biotechnology, Huntsville, AL.
Stephanie A KraftDepartment of Bioethics and Decision Science, Geisinger College of Health Sciences, Danville, PA.
Laura M AmendolaDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA.
Eimear E KennyInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY.
Stephanie M FullertonDepartment of Bioethics and Humanities, University of Washington School of Medicine, Seattle, WA.
Sara L AckermanDepartment of Social and Behavioral Sciences, University of California, San Francisco, San Francisco, CA.
Benjamin S WilfondTreuman Katz Center for Pediatric Bioethics and Palliative Care, Seattle Children's Research Institute, Seattle, WA.
Amy L McGuireCenter for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX.
Hadley Stevens SmithCenter for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX.

Funding

Heterogeneity of preferences for and outcomes of pediatric genomic sequencing by race and ethnicityR00HG011491 · NHGRI · HARVARD PILGRIM HEALTH CARE, INC. · PI SMITH, HADLEY STEVENS · 2023 to 2025
$814k
NHGRI NIH HHS R00 HG011491
6 · The paper itself

Abstract

Purpose: Genetic results are important for both patients and their biological relatives. However, cascade screening (CS) uptake is low, especially when testing occurs through research programs and not clinical care. Ethical guidance is needed for CS implementation when individuals receive clinical genetic results through research. Methods: We conducted focus groups with 3 groups of individuals in the Clinical Sequencing Evidence-Generating Research Consortium: clinicians, patient representatives, and scholars of the ethical, legal, and social implications of genomics. We used inductive thematic and comparative analyses to analyze data within and across the groups. Results: All participants ( Conclusion: Ethical tensions and logistical hurdles arise when considering CS that bridges research and clinical settings. Additional study of the appropriateness and feasibility of testing for relatives, especially in genomics in which distinctions between research and clinical care are often blurred, is needed.

Indexed as

Cascade screeningELSI issuesFamily communicationGenetic testingGenomic research

Identifiers

PMID40747515
PMCPMC12310393

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.