Evidence map›Paper›PMID 39348810›Full record

ArticlePublic health genomics2024

"I Didn't Have to Worry about It": Patient and Family Experiences with Health System Involvement in Notifying Relatives of Genetic Test Results.

Paula Rae Blasi, Jamilyn M Zepp, Aaron Scrol, John Ewing, Melissa L Anderson, James D Ralston, Stephanie M Fullerton, Kathleen Leppig, Nora B Henrikson

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PubMed Full text at PMC Publisher
In one paragraph

Article in Public health genomics, 2024. 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

9 authors.

Paula Rae BlasiKaiser Permanente Washington Health Research Institute, Seattle, Washington, USA.
Jamilyn M ZeppDepartment of Translational and Applied Genomics, Kaiser Permanente Center for Health Research, Portland, Oregon, USA.
Aaron ScrolKaiser Permanente Washington Health Research Institute, Seattle, Washington, USA.
John EwingKaiser Permanente Washington Health Research Institute, Seattle, Washington, USA.
Melissa L AndersonKaiser Permanente Washington Health Research Institute, Seattle, Washington, USA.
James D RalstonKaiser Permanente Washington Health Research Institute, Seattle, Washington, USA.
Stephanie M FullertonDepartment of Bioethics and Humanities, University of Washington School of Medicine, Seattle, Washington, USA.
Kathleen LeppigDivision of Medical Genetics, University of Washington, Seattle, Washington, USA.
Nora B HenriksonKaiser Permanente Washington Health Research Institute, Seattle, Washington, USA, Nora.B.Henrikson@kp.org.

Funding

Health care system-led familial risk notification: design and ethical assessmentR01HG010144 · NHGRI · KAISER FOUNDATION RESEARCH INSTITUTE · PI BLASI, PAULA RAE · 2018 to 2023
$2.1M
NHGRI NIH HHS R01 HG010144
6 · The paper itself

Abstract

introductionIn the USA, patients who undergo genetic testing for hereditary cancer risk are responsible for informing relatives about their genetic test results, but many relatives never find out they might be at risk. A health system-mediated relative notification program might help fill this gap, but questions remain about the acceptability of this approach.

methodsWe analyzed qualitative data from a single-arm, nonrandomized, mixed-methods study to understand how patients and families experienced a new health system-mediated relative notification program. We invited all study participants to participate in semi-structured telephone interviews at 6-8 weeks after return of genetic test results. We used a template analysis approach to thematically analyze interview transcripts.

resultsWe interviewed 32 participants, including 17 probands and 15 relatives. Relatives reported positive experiences with the notification program, noting they felt in control of decisions and appreciated genetic counselor involvement in communicating the proband's test results. Benefits of direct contact included reduced burden for probands, increased family discussions about health, and notification of relatives who otherwise would not have learned results. No participants reported adverse effects from the program.

conclusionOverall, the relative notification program was acceptable to participants and supported probands in reaching at-risk relatives who otherwise might not have been notified. These findings could inform the implementation of future genetic risk family notification programs with the potential to improve uptake of cascade testing and advance cancer prevention and early detection efforts.

Indexed as

FamilyGenetic TestingAdultAgedFemaleGenetic CounselingGenetic Predisposition to DiseaseHumansMaleMiddle AgedNeoplasmsCancerCascade testingCommunicationGenetic counselingGenetic testing

Identifiers

PMID39348810
PMCPMC11530079

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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.