{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T05:49:36Z","timestamp":1782107376794,"version":"3.54.5"},"reference-count":28,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2026,6,21]],"date-time":"2026-06-21T00:00:00Z","timestamp":1782000000000},"content-version":"vor","delay-in-days":20,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T00:00:00Z","timestamp":1780272000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100000968","name":"American Heart Association","doi-asserted-by":"publisher","award":["24CDA1272533"],"award-info":[{"award-number":["24CDA1272533"]}],"id":[{"id":"10.13039\/100000968","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013669","name":"Ionis Pharmaceuticals","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013669","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Journal of Genetic Counseling"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Genetics\u2010informed 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                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u200910) 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\u2010risk 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\u2010specific 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\u2010based approaches to improve patient education about genetic counselors, emphasize recommendations from cardiovascular providers, train cardiac\u2010specific 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.\n                  <\/jats:p>","DOI":"10.1002\/jgc4.70249","type":"journal-article","created":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T05:41:27Z","timestamp":1782106887000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A pilot qualitative study of patient understanding and perceptions of genetic counselors and cascade testing in the context of transthyretin cardiac amyloidosis"],"prefix":"10.1002","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6070-6978","authenticated-orcid":false,"given":"Quan M.","family":"Bui","sequence":"first","affiliation":[{"name":"Division of Cardiovascular Medicine, Department of Medicine University of California, San Diego  La Jolla California USA"},{"name":"Altman Clinical and Translational Research Institute Dissemination and Implementation Science Center University of California, San Diego  La Jolla California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taylor","family":"Berninger","sequence":"additional","affiliation":[{"name":"Center for Empathy and Technology, T. Denny Sanford Institute for Empathy and Compassion University of California, San Diego  La Jolla California USA"},{"name":"Augustana\u2010Sanford Genetic Counseling Graduate Program Augustana University  Sioux Falls South Dakota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Morales","sequence":"additional","affiliation":[{"name":"Department of Genomic Health Geisinger Health  Danville Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren","family":"Korty","sequence":"additional","affiliation":[{"name":"Division of Genetic Counseling University of California, San Diego  La Jolla California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Larry A.","family":"Allen","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Department of Medicine University of Colorado School of Medicine  Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric D.","family":"Adler","sequence":"additional","affiliation":[{"name":"Division of Cardiovascular Medicine, Department of Medicine University of California, San Diego  La Jolla California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcus A.","family":"Urey","sequence":"additional","affiliation":[{"name":"Division of Cardiovascular Medicine, Department of Medicine University of California, San Diego  La Jolla California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberly N.","family":"Hong","sequence":"additional","affiliation":[{"name":"Division of Cardiovascular Medicine, Department of Medicine University of California, San Diego  La Jolla California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Borsika","family":"Rabin","sequence":"additional","affiliation":[{"name":"Altman Clinical and Translational Research Institute Dissemination and Implementation Science Center University of California, San Diego  La Jolla California USA"},{"name":"Herbert Wertheim School of Public Health and Human Longevity Science University of California, San Diego  La Jolla California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cinnamon","family":"Bloss","sequence":"additional","affiliation":[{"name":"Center for Empathy and Technology, T. Denny Sanford Institute for Empathy and Compassion University of California, San Diego  La Jolla California USA"},{"name":"Division of Cardiology, Department of Medicine University of Colorado School of Medicine  Aurora Colorado USA"},{"name":"Department of Psychiatry University of California, San Diego  La Jolla California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,6,21]]},"reference":[{"key":"e_1_2_17_2_1","unstructured":"Amyloidosis Research Consortium. (2024).RC 2024 Community Survey Results."},{"key":"e_1_2_17_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaoncol.2015.3048"},{"key":"e_1_2_17_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/CRD.0000000000000081"},{"key":"e_1_2_17_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/capr.12360"},{"key":"e_1_2_17_6_1","doi-asserted-by":"publisher","DOI":"10.5334\/gh.1262"},{"key":"e_1_2_17_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cardfail.2025.11.496"},{"key":"e_1_2_17_8_1","doi-asserted-by":"publisher","DOI":"10.1080\/14796678.2025.2484128"},{"key":"e_1_2_17_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/jgc4.1604"},{"key":"e_1_2_17_10_1","doi-asserted-by":"publisher","DOI":"10.1177\/1359105309338974"},{"key":"e_1_2_17_11_1","volume-title":"Qualitative inquiry & research design: Choosing among five approaches","author":"Creswell J. 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(2024).2024 Professional status survey."},{"key":"e_1_2_17_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11135\u2010017\u20100574\u20108"},{"key":"e_1_2_17_25_1","doi-asserted-by":"publisher","DOI":"10.3389\/fmed.2022.757212"},{"key":"e_1_2_17_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cardfail.2024.09.015"},{"key":"e_1_2_17_27_1","unstructured":"Statement AP. (2020).Genetic counselors: Improving access to their services for patients with cardiovascular disease and their families."},{"key":"e_1_2_17_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.08.023"},{"key":"e_1_2_17_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2022.11.022"}],"container-title":["Journal of Genetic Counseling"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jgc4.70249","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jgc4.70249","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jgc4.70249","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T05:41:34Z","timestamp":1782106894000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jgc4.70249"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6]]},"references-count":28,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,6]]}},"alternative-id":["10.1002\/jgc4.70249"],"URL":"https:\/\/doi.org\/10.1002\/jgc4.70249","archive":["Portico"],"relation":{},"ISSN":["1059-7700","1573-3599"],"issn-type":[{"value":"1059-7700","type":"print"},{"value":"1573-3599","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6]]},"assertion":[{"value":"2025-04-15","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-06-05","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-06-21","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70249"}}