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Table of Contents
Vol. 13, No. 4, 2010
Issue release date: April 2010
Public Health Genomics 2010;13:235–245

Mainstreaming Genetics: A Comparative Review of Clinical Services for Inherited Cardiovascular Conditions in the UK

Burton H. · Alberg C. · Stewart A.
Foundation for Genomics and Population Health, Cambridge, UK

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Inherited cardiovascular conditions (ICCs) are a group of monogenic disorders caused by mutations in the components of the electrical and contractile system of the heart or its vasculature. ICCs include arrhythmias, cardiomyopathies, inherited arteriopathies such as Marfan syndrome, muscular dystrophies, and familial hypercholesterolaemia. Epidemiological data on ICCs are sparse but a survey of the available literature suggests that there are approximately 340,000 prevalent cases of these conditions in the UK (population 61 million). As a result of dramatic advances in understanding of the molecular pathology of ICCs, more than 50 ICCs have been recognised, and diagnostic genetic tests are increasingly available. As part of a needs assessment and review of provision of ICC services, a survey of all UK ICC services was undertaken focusing on both quantitative and qualitative aspects. Service provision was found to be highly inequitable, with typically a 10–20-fold variation in referral and genetic testing rates between different UK regions. Service levels per million population are much higher in London than in all but one of the regions. The review concluded that capacity of services is inadequate to meet current or future demand and many services lack the critical mass to provide the full range of services. Recommendations are made for the development of services appropriate for the future. Services should be led by cardiology but have close links with clinical genetics services, which should provide support with specialist genetics advice and cascade testing. Finally, the international relevance of this review is considered.

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  1. Morita H, Wu J, Zipes DP: The QT syndromes: long and short. Lancet 2008;372:750–763.
  2. Elliott P, Spirito P: Prevention of hypertrophic cardiomyopathy-related deaths: theory and practice. Heart 2008;94:1269–1275.
  3. Noseworthy PA, Newton-Cheh C: Genetic determinants of sudden cardiac death. Circulation 2008;118:1854–1863.
  4. Dean J: Marfan syndrome: clinical diagnosis and management. Eur J Hum Genet 2007;15:724–733.
  5. Austin MA, Hutter CM, Zimmern RL, Humphries SE: Familial hypercholesterolaemia and coronary heart disease: a HuGE review. Am J Epidemiol 2004;160:421–429.
  6. Heart to Heart: Inherited Cardiovascular Conditions Services – A Needs Assessment and Service Review. Burton H, Alberg C, Stewart A: PHG Foundation, 2009. ISBN 978–1–907198–01–4.
  7. Department of Health: National Service Framework for Coronary Heart Disease. Chapter 8: Arrhythmias and sudden cardiac death. 2005.
  8. Scottish Government: Better coronary heart disease and stroke care: a consultation document. 2008.
  9. Welsh Assembly Government: The National Service Framework for cardiac disease: strategic aims and implementation. A cardiac programme for Wales. 2008.
  10. Wierzbicki AS, Ratcliffe C: The 2007 Heart-UK survey of lipid clinics and clinical practice in the UK. Atherosclerosis 2008;199:234.
  11. Rogowski WH, Grosse SD, Khoury MJ: Challenges of translating genetic tests into clinical and public health practice. Nat Rev Genet 2009;10:489–495.
  12. Petko C, Bradley DJ, Tristani-Firouzi M, Cohen MI, Sanatani S, Saarel EV, Albaro CA, Etheridge SP: Congenital long QT syndrome in children identified by family screening. Am J Cardiol 2008;101:1756–1758.
  13. Borry P, Evers-Kiebooms G, Cornel MC, Clarke A, Dierickx K, on behalf of the Public and Professional Policy Committee of the European Society of Human Genetics: Genetic testing in asymptomatic minors. Eur J Hum Genet 2009;17:711–719.
  14. Moore T, Burton H: Genetic ophthalmology in focus. A needs assessment and review of specialist services for genetic eye disorders. Foundation for Genomics and Population Health, 2008.
  15. Burton H: Metabolic pathways: networks of care. A needs assessment and review of services for people with inherited metabolic disease in the United Kingdom. Foundation for Genomics and Population Health, 2005.

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