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Heart to Heart Inherited Cardiovascular Conditions Services

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Heart to Heart Inherited Cardiovascular Conditions Services Heart to Heart Inherited Cardiovascular Conditions Services A Needs Assessment and Service Review Hilary Burton Corinna Alberg Alison Stewart June 2009 www.phgfoundation.org PHG Foundation Team Dr Hilary Burton Programme Director Ms Corinna Alberg* Project Manager Dr Alison Stewart Principal Associate The Project Team would like to express their thanks to members of the Inherited Cardiovascular Conditions Services Working Group and in particular to the Cardiomyopathy Association, CRY, Marfan Association UK and SADS UK, who gave so freely of their time and expertise. Thanks are also due to the British Heart Foundation who provided us with meeting rooms and to Gill Cawdron for her excellent organizational support for the meetings. We would also like to acknowledge the contribution of the ELSI sub group members and the patients’ perspective focus group participants. The review was led and funded by the PHG Foundation. This report can be downloaded from our website: www.phgfoundation.org Published by PHG Foundation Strangeways Research Laboratory Worts Causeway Cambridge CB1 8RN UK Tel: +44 (0) 1223 740200 Fax: +44 (0) 1223 740892 First edition, June 2009 © 2009 PHG Foundation ISBN 978-1-907198-01-4 * To whom correspondence should be addressed: [email protected] The PHG Foundation is the working name of the Foundation for Genomics and Population Health, an independent charitable organisation (registered in England and Wales, charity No. 1118664 company No. 5823194), which works with partners to achieve better health through the responsible and evidence-based application of biomedical science. 2 Heart to heart: Inherited Cardiovascular Conditions Services CONTENTS Page Foreword 2 Executive summary and recommendations 3 Chapter 1 Introduction and background 10 Chapter 2 Science, epidemiology and clinical management 14 Chapter 3 The policy context 23 Chapter 4 The patients’ perspective 30 Chapter 5 Comparative survey of ICC services 36 Chapter 6 What makes a specialist service? 62 Chapter 7 Ethical and legal issues 82 Chapter 8 Horizon scanning: new technological developments and their potential 92 impact on services Chapter 9 Conclusions and recommendations 96 Chapter 10 References 103 Appendices 1 Inherited cardiovascular conditions - background document 108 2 Copies of questionnaires to services 3 Calculations for estimating shortfall in activity 4 Service profile of genetic tests listed by UKGTN 5 Working group membership 6 Ethical and legal sub group membership 1 Foreword Professor Peter Weissberg Medical Director British Heart Foundation This document is the product of a huge amount of hard work involving almost everyone in the UK with an interest in Inherited Cardiovascular Conditions (ICC). The findings of the Working Group illustrate what happens when clinical services evolve organically around specialists with a particular interest. Centres of excellence emerge, but not necessarily in the right places, and there is commonly a gross geographical mismatch between service provision and population need. This is typical of an embryonic specialty driven mostly by research orientated clinicians. However, as a consequence of the ongoing and rapidly advancing revolution in genetics, ICC has now come of age. Many of the causative genetic mutations are known and, in many cases, effective treatments are available. Therefore, it is no longer acceptable for someone at risk of an ICC not to receive timely, expert attention. The review contains exemplars of the multidisciplinary approach needed to provide an appropriate service for patients with ICC. As we move into an era of World Class Commissioning it behoves commissioners to pay attention to this document and ensure that there is equity of access to first class specialist services across the UK for all patients suspected to be at risk of an ICC. The BHF is delighted to be partnering the Department of Health in launching a genetics information service that will ensure that relatives of a victim of a presumed ICC will be provided with all the information they need to access appropriate care, advice and support from the health service and other relevant support groups. 2 Heart to heart: Inherited Cardiovascular Conditions Services Review of Services for Inherited Cardiovascular Conditions - Executive Summary Inherited cardiovascular conditions (ICCs) are a group of monogenic disorders primarily affecting the heart, its conducting system or vasculature. In some cases, the first indication that an individual has an ICC is sudden cardiac death (SCD), often in adolescence or early adulthood. When an ICC is diagnosed, or suspected, there are implications for the individual’s relatives, who may also be at risk. Two surveys of service provision for ICCs, undertaken in 2006, highlighted variation in service provision but noted that a more comprehensive review was warranted. The Foundation for Genomics and Population Health (PHG Foundation) was invited to undertake a needs assessment and review of ICC services under the supervision of an expert Working Group. This project is intended to inform the work of commissioners and providers charged with implementing Chapter 8 of the National Service Framework for Coronary Heart Disease (2005), which makes key recommendations for the provision of services for patients and families with SCD and ICCs. It was agreed also to include familial hypercholesterolaemia (FH) within the scope of this review, as this relatively common monogenic disorder is associated with premature coronary heart disease. Science, epidemiology and clinical management The last decade has seen dramatic advances in our understanding of the molecular pathology of ICCs. More than 50 ICCs have been recognised and genetic tests are increasingly available for the more common disorders (such as FH and hypertrophic cardiomyopathy (HCM)) and for some rarer disorders (for example, Marfan syndrome and long QT syndrome (LQTS)). The conditions are highly heterogeneous, both genetically and clinically. Epidemiological evidence is incomplete, but suggests a combined total prevalence for ICCs of about 340,000 in the UK (including approximately 120,000 individuals affected by FH). Risks associated with the conditions are highly variable, depending on the mutation and the spectrum of clinical risk factors. The average annual risk of SCD is about 0.1% for LQTS, and the annual mortality for HCM about 0.3–1%. Risks are substantially higher for patients with the most severe symptoms or in those who have experienced a resuscitated cardiac arrest. Mutation carriers with no identifiable clinical risk factors have lower absolute risks. For FH, annual average mortality is about 0.1–0.5%. Marfan syndrome can be fatal by age 30 or younger if untreated. For many ICCs, careful clinical management can reduce risk. For arrhythmia syndromes (such as LQT) and HCM, treatments can include a variety of drugs, lifestyle advice to avoid triggering events, fitting of implantable defribillator devices or, in some cases, surgical options. FH can be successfully treated by statins. Genetic testing can aid clinical management by enabling more accurate diagnosis and risk assessment, and in some cases guiding the choice of treatment. Importantly, identification of a mutation in an affected person enables their relatives to be offered targeted testing for the same mutation. Those who carry the mutation can then be assessed and offered appropriate surveillance and/or treatment, while those who do not carry the mutation can be spared further investigation. This approach is known as cascade testing. Along with genetic discoveries have come advances in specialist branches of cardiology, such as electrophysiology, echocardiography and imaging techniques, that have improved and refined diagnosis and management of ICCs. The conditions are extraordinarily varied and complex, requiring specialist input at almost every stage of diagnosis and management. 3 Policy background Policy initiatives, particularly Chapter 8 of the National Service Framework for Coronary Heart Disease and England and Wales (and a similar initiative in Scotland) have mandated improved services for ICCs, focusing initially on the arrhythmia syndromes and HCM but more recently broadening in scope to include a wider range of ICCs. For FH, guidance issued by NICE in 2008 recommended systematic cascade genetic testing in the extended families of affected individuals. Initiatives by professional groups (for example, Heart Rhythm UK) and the charitable sector (for example, the British Heart Foundation and patient-representative groups) have raised awareness of ICCs and supported improved recognition and management of families affected by SCD. Policy initiatives described in this report relate primarily to England and Wales but are of relevance to how services are developing in Scotland and Northern Ireland. Patients’ perspective Despite the recent policy impetus, a focus group of representatives of patient-support groups, convened as part of our review, concluded that services are still inadequate to deliver a timely, coordinated and holistic service to patients and their families. Awareness of ICCs among coroners, GPs and general cardiologists is still too low, with the result that patients may not receive appropriate referral to the specialist service. Access to genetic advice and testing was seen as problematic, with insufficient communication between specialist genetics and cardiology elements of the service. Patients would like to see better continuity
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