{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T02:53:08Z","timestamp":1792637588003,"version":"4.5.0"},"reference-count":10,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2024,8,16]],"date-time":"2024-08-16T00:00:00Z","timestamp":1723766400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,8,30]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Aims<\/jats:title>\n                  <jats:p>Indications and clinical impact of genetic testing for cardiac diseases have increased significantly over the past years. The aim of this physician-based European Heart Rhythm Association (EHRA) survey was to assess current clinical practice and access to genetic testing for cardiac diseases across European Society of Cardiology countries and to evaluate adherence to the 2022 EHRA\/HRS\/APHRS\/LAHRS Expert Consensus Statement on genetic testing.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods and results<\/jats:title>\n                  <jats:p>An online questionnaire composed of 28 questions was submitted to the EHRA Research Network and European Reference Network GUARD-Heart healthcare partners and promoted via dedicated social media channels. There were 357 respondents from 69 countries, 40% working in a hospital setting with a cardiac genetic service and\/or a dedicated clinic focusing on inherited cardiac diseases and 27% with an onsite genetic laboratory. No genetic testing or low annual rate (&amp;lt;10\/year) was declared by 39% of respondents. The majority of respondents (78%) declared issues or limitations to genetic testing access in their clinical practice. The main reasons for not providing or limited access to genetic testing were no availability of dedicated unit or genetic laboratory (35%) or reimbursement issues (25%). The most frequently reported indication for genetic testing was diagnostic purpose (55%). Most respondents (92%) declared offering genetic testing preceded by genetic counselling and 42% regular multidisciplinary evaluations for patients with cardiac genetic diseases. The perceived value of genetic testing in the diagnostic, prognostic, and therapeutic assessment was variable (67, 39, and 29%, respectively) and primarily based on the specific inherited disease. The majority of respondents recommended cascade genetic testing for the first-degree family members in case of pathogenic\/likely pathogenic variant in the proband.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>This survey highlights a significant heterogeneity of genetic testing access and provision and issues attributable to the availability of dedicated unit\/genetic laboratory and reimbursement. However, adequate adherence to indications in the current recommendations for genetic testing in patients with cardiac diseases was observed.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/europace\/euae216","type":"journal-article","created":{"date-parts":[[2024,8,16]],"date-time":"2024-08-16T09:20:55Z","timestamp":1723800055000},"source":"Crossref","is-referenced-by-count":18,"title":["Genetic testing for inherited arrhythmia syndromes and cardiomyopathies: results of the European Heart Rhythm Association survey"],"prefix":"10.1093","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4550-4056","authenticated-orcid":false,"given":"Ivan","family":"Zeljkovic","sequence":"first","affiliation":[{"name":"Cardiology Department, Dubrava University Hospital , Zagreb ,","place":["Croatia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4912-8753","authenticated-orcid":false,"given":"Ana\u00efs","family":"Gauthey","sequence":"additional","affiliation":[{"name":"Heart Rhythm Management Center, Universitair Ziekenhuis Brussel-Vrije Universiteit , Brussels ,","place":["Belgium"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0545-4373","authenticated-orcid":false,"given":"Martin","family":"Manninger","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Department of Internal Medicine, Medical University of Graz , Graz ,","place":["Austria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9049-546X","authenticated-orcid":false,"given":"Katarzyna","family":"Malaczynska-Rajpold","sequence":"additional","affiliation":[{"name":"Cardiology Department, Royal Brompton Hospital, Guy\u2019s and St Thomas NHS Foundation Trust , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3895-9316","authenticated-orcid":false,"given":"Jacob","family":"Tfelt-Hansen","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Rigshospitalet, Copenhagen University Hospital , Copenhagen ,","place":["Denmark"]},{"name":"Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen , Copenhagen ,","place":["Denmark"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8739-6527","authenticated-orcid":false,"given":"Lia","family":"Crotti","sequence":"additional","affiliation":[{"name":"Center for Cardiac Arrhythmias of Genetic Origin, Cardiomyopathy Unit and Laboratory of Cardiovascular Genetics, Department of Cardiology, Istituto Auxologico Italiano, IRCCS , Milan ,","place":["Italy"]},{"name":"Department of Medicine and Surgery, University of Milano-Bicocca , Milan ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8731-2853","authenticated-orcid":false,"given":"Elijah R","family":"Behr","sequence":"additional","affiliation":[{"name":"Cardiovascular and Genomics Research Institute City St. George\u2019s, University of London and St. George\u2019s University Hospitals NHS Foundation Trust , London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8574-9421","authenticated-orcid":false,"given":"Federico","family":"Migliore","sequence":"additional","affiliation":[{"name":"Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padova , Padova 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Ospedaliero Cantonale , via Tesserete 48, 6900 Lugano ,","place":["Switzerland"]},{"name":"Faculty of Biomedical Sciences, USI , via la Santa 1, 6900 Lugano ,","place":["Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,8,16]]},"reference":[{"key":"2024093009374164900_euae216-B1","doi-asserted-by":"crossref","first-page":"1389","DOI":"10.1093\/europace\/eut272","article-title":"HRS\/EHRA\/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013","volume":"15","author":"Priori","year":"2013","journal-title":"Europace"},{"key":"2024093009374164900_euae216-B2","doi-asserted-by":"crossref","first-page":"3997","DOI":"10.1093\/eurheartj\/ehac262","article-title":"2022 ESC guidelines for the management of patients with ventricular arrhythmias and the 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