A pilot qualitative study of patient understanding and perceptions of genetic counselors and cascade testing in the context of transthyretin cardiac amyloidosis.
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 (...
| Publicado en: | Journal of Genetic Counseling Vol. 35; no. 3; pp. 1 - 12 |
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| Autores principales: | , , , , , , , , , |
| Formato: | research tables/charts Journal Article |
| Publicado: |
Wiley-Blackwell
Jun2026
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=194918689&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 194918689 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 10597700 41A jtl: Journal of Genetic Counseling issn: 10597700 maglogo: N pubinfo: dt: Jun2026 vid: 35 iid: 3 pid: 480 pub: Wiley-Blackwell place: Malden, Massachusetts artinfo: ui: 194918689 194918689 194918689 10.1002/jgc4.70249 194918689 ppf: 1 ppct: 11 formats: tig: atl: A pilot qualitative study of patient understanding and perceptions of genetic counselors and cascade testing in the context of transthyretin cardiac amyloidosis. aug: au: Bui, Quan M. Berninger, Taylor Morales, Ana Korty, Lauren Allen, Larry A. Adler, Eric D. Urey, Marcus A. Hong, Kimberly N. Rabin, Borsika Bloss, Cinnamon affil: Division of Cardiovascular Medicine, Department of Medicine, University of California, San Diego, La Jolla California,, USA sug: subj: Patient Attitudes Evaluation Amyloidosis, Cardiac Diagnosis Genetic Counselors Genetic Screening Methods Genomics Human Descriptive Statistics Pilot Studies Qualitative Studies Male Female Middle Age Aged Thematic Analysis Semi-Structured Interview Communication Stress, Psychological Stigma Extended Family Psychosocial Factors Cardiomyopathy, Hypertrophic Heart Failure Consent Implementation Science Purposive Sample Videorecording Data Analysis Software Middle Aged: 45-64 years Aged: 65+ years Male Female ab: 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. pubtype: Academic Journal doctype: research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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