Zeljkovic, I;
Gauthey, A;
Manninger, M;
Malaczynska-Rajpold, K;
Tfelt-Hansen, J;
Crotti, L;
Behr, ER;
Migliore, F;
Wilde, A;
Chun, J;
et al.
Zeljkovic, I; Gauthey, A; Manninger, M; Malaczynska-Rajpold, K; Tfelt-Hansen, J; Crotti, L; Behr, ER; Migliore, F; Wilde, A; Chun, J; Conte, G
(2024)
Genetic testing for Inherited Arrhythmia Syndromes and Cardiomyopathies: results of the European Heart Rhythm Association Survey.
Europace.
ISSN 1532-2092
https://doi.org/10.1093/europace/euae216
SGUL Authors: Behr, Elijah Raphael
Abstract
Indications and clinical impact of genetic testing for cardiac diseases have increased significantly over the past years. The aim of this physician-based EHRA survey was to assess current clinical practice and access to genetic testing for cardiac diseases across ESC countries and to evaluate adherence to the 2022 EHRA/HRS/APHRS/LAHRS Expert Consensus Statement on genetic testing. 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 (<10/y) 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 (P/LP) variant in the proband. 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.
Item Type: |
Article
|
Additional Information: |
© The Author(s) 2024. Published by Oxford University Press on behalf of the European Society of Cardiology.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. |
Keywords: |
EHRA survey, cardiomyopathies, genetic heart disease, genetic testing, inherited arrhythmogenic diseases, inherited primary arrhythmia syndromes, sudden cardiac death, 1103 Clinical Sciences, Cardiovascular System & Hematology |
SGUL Research Institute / Research Centre: |
Academic Structure > REF 2021 user group |
Journal or Publication Title: |
Europace |
ISSN: |
1532-2092 |
Language: |
eng |
Dates: |
Date | Event |
---|
16 August 2024 | Published Online | 12 August 2024 | Accepted |
|
Publisher License: |
Creative Commons: Attribution 4.0 |
PubMed ID: |
39148456 |
![](http://static.pubmed.gov/portal/portal3rc.fcgi/2745237/img/27842) |
Go to PubMed abstract |
URI: |
https://openaccess.sgul.ac.uk/id/eprint/116778 |
Publisher's version: |
https://doi.org/10.1093/europace/euae216 |
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