Evidence map›Paper›PMID 42324791›Full record

ArticleJournal of genetic counseling2026

A pilot qualitative study of patient understanding and perceptions of genetic counselors and cascade testing in the context of transthyretin cardiac amyloidosis.

Quan M Bui, Taylor Berninger, Ana Morales, Lauren Korty, Larry A Allen, Eric D Adler, Marcus A Urey, Kimberly N Hong, Borsika Rabin, Cinnamon Bloss

Abstract read
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In one paragraph

Article in Journal of genetic counseling, 2026. 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

10 authors.

Quan M BuiDivision of Cardiovascular Medicine, Department of Medicine, University of California, San Diego, La Jolla, California, USA.ORCID https://orcid.org/0000-0001-6070-6978
Taylor BerningerCenter for Empathy and Technology, T. Denny Sanford Institute for Empathy and Compassion, University of California, San Diego, La Jolla, California, USA.
Ana MoralesDepartment of Genomic Health, Geisinger Health, Danville, Pennsylvania, USA.
Lauren KortyDivision of Genetic Counseling, University of California, San Diego, La Jolla, California, USA.
Larry A AllenDivision of Cardiology, Department of Medicine, University of Colorado School of Medicine, Aurora, Colorado, USA.
Eric D AdlerDivision of Cardiovascular Medicine, Department of Medicine, University of California, San Diego, La Jolla, California, USA.
Marcus A UreyDivision of Cardiovascular Medicine, Department of Medicine, University of California, San Diego, La Jolla, California, USA.
Kimberly N HongDivision of Cardiovascular Medicine, Department of Medicine, University of California, San Diego, La Jolla, California, USA.
Borsika RabinAltman Clinical and Translational Research Institute Dissemination and Implementation Science Center, University of California, San Diego, La Jolla, California, USA.
Cinnamon BlossCenter for Empathy and Technology, T. Denny Sanford Institute for Empathy and Compassion, University of California, San Diego, La Jolla, California, USA.

Funding

American Heart Association 24CDA1272533Ionis Pharmaceuticals
6 · The paper itself

Abstract

Genetics-informed care is becoming increasingly important in the management of cardiomyopathy (CM). Despite current guidelines recommending genetic testing and counselors, these services are vastly underutilized. To our knowledge, this is the first qualitative study to examine patient perspectives (n = 10) on genetic counselors and cascade testing in the context of cardiovascular care in transthyretin amyloidosis (ATTR), with the goal to inform implementation strategies for integrating genetic services. Codebook thematic analysis of semistructured interviews was conducted with adult patients diagnosed with ATTR or at-risk family members between June and August 2024. Data were evaluated through deductive and inductive coding. Five key themes were identified: (1) patients had limited understanding of genetic counselors' roles; (2) the likelihood of a patient seeing a genetic counselor was significantly influenced by strength of cardiovascular provider recommendation; (3) patient experiences with genetic counselors were generally favorable, especially psychosocial support; (4) patients suggested additional refinements for genetic counseling, including the desire for cardiac-specific expertise; (5) patients faced considerable challenges communicating the importance of genetic testing to family members, largely due to stigma and family members' preference to avoid distress associated with testing. These findings highlight the need for implementation of science-based approaches to improve patient education about genetic counselors, emphasize recommendations from cardiovascular providers, train cardiac-specific genetic counselors, and develop innovative tools to support family communication around cascade testing. Addressing these areas can enhance the integration of genetic services into routine CM care.

Indexed as

Amyloid Neuropathies, FamilialCardiomyopathiesCounselorsGenetic CounselingGenetic TestingAdultAgedFemaleHumansMaleMiddle AgedPilot ProjectsQualitative Researchcardiac amyloidosiscardiomyopathygenetic counselorgenetic testingheart failureimplementation scienceinformed consent

Identifiers

PMID42324791
PMCPMC13284445

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Registered trials

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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.