15 June 2009
A new PHG Foundation report sets out the current UK situation with respect to National Health Service (NHS) provision for patients and families affected by inherited cardiac conditions (ICCs). These are a diverse group of more than fifty genetic disorders affecting the heart, cardiac electrical systems and blood vessels; for example, hypertrophic cardiomyopathy, familial hypercholesterolaemia and long QT Syndrome. It also includes genetic conditions that affect multiple body systems, such as Marfan Syndrome. Taken together, genetic disorders that involve the heart affect around 340,000 people in the UK, although the clinical features and genetic basis of different conditions vary greatly, representing a significant burden of potentially preventable morbidity and sudden premature death.
Recent rapid progress in the understanding of the underlying genetics of ICCs has made precise genetic diagnosis increasingly feasible; combined with developments in cardiology, working together experts can now provide greatly enhanced diagnosis and clinical management of patients and at-risk relatives. The PHG Foundation funded and led a project to review current technology and clinical services provision for ICCs in the UK. Informed by an expert Working Group (including cardiologists, geneticists, health service commissioners and managers, and representatives from key charities), the project also considered wider issues relevant to the needs of patients and families.
Heart to Heart: Inherited Cardiovascular Conditions Services sets out findings; service capacity was found to be insufficient to meet current or anticipated future needs, and serious inequalities in provision in different parts of the country were identified. The report sets out the requirements for appropriate specialised services for ICCs, which should include multidisciplinary teams of health professionals, access to the latest forms of testing and clinical investigations and provision of bereavement support and counselling. Increased awareness of these integrated services (for example, among GPs) and co-ordination with voluntary support organisations are also said to be essential.
The Working Group concluded that every UK cardiac network should ensure that its population has access to specialised expert ICC services for children and adults. Other key recommendations included that cardiac networks and exports should agree on timescales and standards for services, work to ensure that health professionals develop the necessary specialist competences to deliver and maintain these services, and put in place suitable programmes of research and evaluation.
The report also notes the need for changes to legislation and existing systems to encourage the retention of tissue samples following sudden cardiac death, and for clarification of the responsibility of coroners to family members who may be at risk, allowing investigation of the possibility of an ICC.
On behalf of the UK Department of Health, Professor Roger Boyle (National Clinical Director for Heart Disease and Stroke) commented: “We welcome this report and will be working closely with the NHS, local healthcare services and charities, including PHG Foundation, to develop these specialist inherited cardiac services and address issues surrounding access" (see press release).