Genetic testing in cardiomyopathy
We supported ICoN with a powerful policy narrative and EU engagement plan to improve equitable access to genetic testing.
Cardiomyopathy is a complex heart muscle disease with a significant genetic component, yet access to genetic testing – a cornerstone of guideline-based care – remains highly unequal across Europe.
Up to 40% of people with cardiomyopathy have a known family history of the condition. Genetic testing can identify relatives at risk before symptoms appear, guide clinicians to the right treatment, enable preventive therapies and support families in making informed decisions about the future. Despite this, inconsistent reimbursement, underdeveloped data infrastructure and significant gaps in the specialist workforce mean that where someone lives can determine the quality of care they receive.
With the publication of the European Safe Hearts Plan, there is a real and timely opportunity for the European Union (EU) to lead on this issue – embedding the needs of people with cardiomyopathy in initiatives such as EU4Health and national cardiovascular health plans.
Project resources
What we’ve achieved
HPP ensured that ICoN members were fully orientated to opportunities in the EU Safe Hearts Plan, and were equipped with a strategic analysis and clear programme of action to secure the organisation’s policy goals.
The project also produced two complementary public deliverables with distinct purposes:
- Drawing on insights from 12 European countries, the policy paper identifies three pillars essential to the optimal delivery of genetic testing: system enablers, capacity building and person-centred care. It documents stark inequalities in access to genetic testing and genetic counselling, as well as significant gaps in workforce development, and sets out an ambitious but actionable agenda for change.
- A dedicated summary calls on the EU to embed the needs of people with cardiomyopathy in the Safe Hearts Plan, EU4Health and wider cardiovascular health strategies.
These materials were informed by desk research, 12 semi-structured interviews with healthcare professionals and people living with cardiomyopathy and their relatives, and an online survey distributed to representatives of all 27 EU Member States. Responses were received from 12 countries: Belgium, Czechia, Estonia, Finland, France, Germany, Italy, Malta, the Netherlands, Portugal, Romania and Spain. The Steering Committee co-authored the paper, closely guiding its development and validating insights throughout.
Key partners and stakeholders
This project was developed with the support of the following partners and stakeholders:
Steering Committee:
- Antoine Bondue, Chair-elect of the Belgian Society of Cardiology; Chair-elect of the European Society of Cardiology Council on Cardiovascular Genomics, Belgium
- Perry Elliott, Chairman of ICoN; Head of the University College London (UCL) Centre for Heart Muscle Disease; Director of the UCL Institute of Cardiovascular Science, UK
- Ruxandra Jurcut, Coordinator of the Expert Center for Rare Cardiovascular Genetic Diseases; Professor of Cardiology, Romania
- Michelle Michels, Cardiologist at the Department of Cardiology, Erasmus Medical Center, the Netherlands
- Anna Tomlinson, Chief Executive Officer of Cardiomyopathy UK, UK
- Adalena Tsatsopoulou, President of Nikos Protonotarios Association for Rare Cardiovascular Disease Care and Prevention, Greece
- Cordula Wolf, Head of Cardiogenetics and Director for Rare Congenital Heart Diseases, German Heart Center, Technical University of Munich, Germany
Contributing experts:
- Elena Arbelo, Coordinator of the Cardiac Genetic Diseases and Sudden Arrhythmic Death Unit, Hospital Clínic of Barcelona, Spain
- Julie de Backer, Cardiologist and Clinical Geneticist at the Ghent University Hospital, Belgium
- Carmen Balan, Co-founder of CardioGen, Romania
- Ruth Biller, Co-founder of ARVC-Selbsthilfe, Germany
- Juan Pablo Kaski, Professor of Paediatric Inherited Cardiovascular Medicine; Director of the Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital, UK
- Antigoni Miliou, Clinical Geneticist at the Unit for Inherited Cardiovascular Diseases, National and Kapodistrian University of Athens, Greece
- Jagat Narula, President of the World Heart Federation
- William Newman, President of the European Society of Human Genetics
- Robert Sepp, Clinical Cardiologist at Cardiology Center, University of Szeged, Hungary
- Gianfranco Sinagra, Director of the Cardiovascular Department, University Hospital of Trieste, Italy
- Anargyros Vasilakis, Vice-President of Nikos Protonotarios Association for Rare Cardiovascular Disease Care and Prevention, Greece
- Arthur Wilde, Coordinator of the European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN GUARD-HEART)
Project funding
HPP’s work on this project was commissioned by ICoN. The content was developed with input from the project’s Steering Committee and ICoN trustees as well as other key experts. The experts provided their time for free.