Evidence map›Paper›PMID 37421176›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2023

Most people share genetic test results with relatives even if the findings are normal: Family communication in a diverse population.

Jessica Ezzell Hunter, Leslie Riddle, Galen Joseph, Laura M Amendola, Marian J Gilmore, Jamilyn M Zepp, Elizabeth Shuster, Joanna E Bulkley, Kristin R Muessig, Katherine P Anderson and 4 more

Open access · bronzeAbstract read
In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
3.8field-weighted citation impact, top 6% of its field
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

10 citing papers in PubMed, 12 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Impact of a Genetic Diagnosis for a Child's Autism on Parental Perceptions.Journal of autism and developmental disorders · 2025
    Article
  6. Article
  7. Article
  8. Article
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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 at 6 institutions in 1 country.

Jessica Ezzell HunterGenomics, Ethics, and Translational Research Program, RTI International, Research Triangle Park, NC; Department of Translational and Applied Genomics, Kaiser Permanente Center for Health Research, Portland, OR. Electronic address: jehunter@rti.org.
Leslie RiddleDepartment of Humanities and Social Sciences, University of California, San Francisco, San Francisco, CA.
Galen JosephDepartment of Humanities and Social Sciences, University of California, San Francisco, San Francisco, CA.
Laura M AmendolaMedical Genomics Research, Illumina Inc., San Diego, CA.
Marian J GilmoreDepartment of Translational and Applied Genomics, Kaiser Permanente Center for Health Research, Portland, OR.
Jamilyn M ZeppDepartment of Translational and Applied Genomics, Kaiser Permanente Center for Health Research, Portland, OR.
Elizabeth ShusterKaiser Permanente Center for Health Research, Portland, OR.
Joanna E BulkleyDepartment of Translational and Applied Genomics, Kaiser Permanente Center for Health Research, Portland, OR.
Kristin R MuessigDepartment of Translational and Applied Genomics, Kaiser Permanente Center for Health Research, Portland, OR.
Katherine P AndersonDepartment of Family Medicine, Ambulatory Care Services, Denver Health, Denver, CO.
Katrina A B GoddardDepartment of Translational and Applied Genomics, Kaiser Permanente Center for Health Research, Portland, OR.
Benjamin S WilfondTreuman Katz Center for Pediatric Bioethics, Seattle Children's Research Institute, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA.
Michael C LeoKaiser Permanente Center for Health Research, Portland, OR.
CHARM study team
Kaiser Permanente Center for Health Research · USDenver Health Medical Center · USSeattle Children's Hospital · USUniversity of California, San Francisco · USIllumina (United States) · USRTI International · US

Funding

Exome sequencing in Diverse Populations in Colorado & OregonU01HG007292 · NHGRI · KAISER FOUNDATION RESEARCH INSTITUTE · PI LEO, MICHAEL C, WILFOND, BENJAMIN SIMON · 2017 to 2021
$15.7M
Evolving Our Partnership: The CSER2 Centralized Support Coordinating CenterU24HG007307 · NHGRI · UNIVERSITY OF WASHINGTON · PI FULLERTON, STEPHANIE MALIA, JARVIK, GAIL PAIRITZ · 2017 to 2021
$5.8M
NHGRI NIH HHS U01 HG007292NHGRI NIH HHS U24 HG007307
6 · The paper itself

Abstract

purposeWith increasing utilization of genetic testing, sharing genetic information can become part of general family health communication while providing biological relatives with important information about their own genetic risk. Importantly, little is known about motivations for and barriers to family communication of genetic information in historically underserved populations.

methodsUsing mixed methods, we explored patient experiences with family communication in a study population of English- and Spanish-speaking adults aged 18 to 49 years, enriched for participants from historically underserved backgrounds. Risk screening for hereditary cancer guided genetic testing for cancer risk genes and other medically actionable findings.

resultsMost participants overall (91%), including most with normal findings (89%), shared or planned to share their results with relatives. Common motivations for sharing results were to give relatives information about their genetic risk and because the participant thought the results were interesting. Reasons for not sharing were limited contact with relatives, perceptions of limited clinical utility for relatives, and concern that discussion of genetic information was stigmatized or taboo.

conclusionResults demonstrate high rates of sharing genetic information, indicate motivations for sharing go beyond facilitating genetic testing for relatives, and suggest general willingness to share genetic information as part of family health communication.

Indexed as

Genetic TestingNeoplasmsAdultCommunicationFamilyGenetic Predisposition to DiseaseHumansSurveys and QuestionnairesCascade testingFamily communicationGenetic counselingHereditary cancerHistorically underserved

Identifiers

PMID37421176
PMCPMC10766857
OpenAlexW4383216071

What OpenQuestion 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 OpenQuestion graph.