Clinical Genetic Services in the United Kingdom

Abstract

The aim of clinical genetic services is to help individuals or families with, or at risk of, conditions which may have a genetic basis to live and reproduce as normally as possible. In the UK, such specialist genetic services have, in general, developed as a network of regional genetics centres of which there are 23 (17 in England, 1 in Wales, 1 in Northern Ireland and 4 in Scotland) that serve populations of between 650 000 and 5 million people. Clinical geneticists work within these centres in multidisciplinary teams together with genetic counsellors and laboratory scientists. The clinical services are delivered through a network of central and district clinics and, in some cases, joint clinics with other specialists. Each centre also has a vital role in education as the relevance of genetics and genomics to all branches of medicine increases. Each centre also plays a key role in research, sometime initiating studies and sometimes recruiting their patients to multi‐centre surveillance studies and clinical trials.

Key Concepts:

  • Clinical genetic services are organised on a regional geographical basis.

  • Each centre has multidisciplinary working.

  • There are regional differences in practice and some differences between the four UK countries.

  • Mainstreaming genetic knowledge and skills to other clinicians is an important and increasing activity.

  • National standards have been developed and are developing to provide a high quality service.

Keywords: services; counselling; workload; outcome; registers

References

Almquist EW, Bloch M, Brinkman R and Craufurd D (1999) A worldwide assessment of the frequency of suicide, suicide attempts, or psychiatric hospitalisation after predictive testing for Huntington disease. American Journal of Human Genetics 64: 1293–1304.

Armstrong AC and Evans GD (2014) Management of women at high risk of breast cancer. British Medical Journal 348: 28–32.

Bulow S (1987) Familial polyposis coli. Danish Medical Bulletin 34: 1–15.

Cairns SR, Scholefield JH, Steele RJ et al. (2010) Guidelines for colorectal cancer screening and surveillance in moderate and high risk groups. Gut 59: 666–689.

Campbell H, Bradshaw N, Davidson R et al. (2000) Evidence based medicine in practice: lessons from a Scottish clinical genetics project. Journal of Medical Genetics 37: 684–691.

Clinical Genetics Society (2011) The Roles of the Clinical Geneticist. http://www.clingensoc.org/media/43510/roles_clinical_geneticist_2011.pdf

Cole TRP and Sleightholme HV (2000) ABC of colorectal cancer. The role of clinical genetics in management. British Medical Journal 321: 943–946.

Dean JS, Fitzpatrick DR, Farndon PA, Kingston H and Cusine D (2000) Genetic registers in clinical practice: a survey of UK clinical geneticists. Journal of Medical Genetics 37: 636–640.

Department of Health (2003) Our Inheritance, Our Future. Realising the Potential of Genetics in the NHS. London: Department of Health.

Donnai D and Elles R (2001) Integrated regional genetic services: current and future provision. British Medical Journal 322: 1048–1051.

Eccles D, Evans D and MacKay J (on behalf of the UK Cancer Family Study Group, UKCFGS) (2000) Guidelines or a genetic risk based approach to advising women with a family history of breast cancer. Journal of Medical Genetics 37: 203–209.

Ferner RE, Huson SM, Thomas N et al. (2007) Guidelines for the diagnosis and management of individuals with neurofibromatosi type 1. Journal of Medical Genetics 44: 81–88.

Harris R and Harris HJ (1999) Clinical governance and genetic medicine. Specialist genetic centres and the Confidential Enquiry into Counselling for Genetic Disorders by non‐geneticists (CEGEN). Journal of Medical Genetics 36: 350–351.

Jarvinen HJ, Aarnio M, Mustonen H et al. (2000) Controlled 15 year trial on screening for colorectal cancer in families with hereditary non‐polyposis colorectal cancer. Gastroenterology 118: 829–834.

de Jong AE, Hendriks YM, Kleibeuker JH et al. (2006) Shift in mortality due to surveillance in the Lynch syndrome. Gastroenterology 130: 665–671.

Ludlam CA, Pasi KJ, Bolton‐Maggs P (on behalf of UK Haemophilia Centre Doctors' Organisation) et al. (2005) A framework for genetic service provision for haemophilia and other inherited bleeding disorders. Haemophilia 11: 145–163.

NHS National Institute for Health and Care Excellence (2013) NICE Guidelines: Familial Breast Cancer. Classification and Care of People at Risk of Familial Breast Cancer and Management of Breast Cancer and Related Risks in People with a Family History of Breast Cancer NICE Clinical Guideline 164 Issued: June 2013. http://publications.nice.org.uk/familial‐breast‐cancer‐cg164

Royal College of Physicians (1998) Clinical Genetic Services: Activity, Outcome, Effectiveness and Quality. London: Royal College of Physicians.

Royal College of Physicians (2013) Consultant Physicians: Working for Patients. The Duties, Responsibilities and Practice of Physicians in Medicine. London: Royal College of Physicians. Revised 5th edn. http://www.rcplondon.ac.uk/sites/default/files/consultant_physicians_revised_5th_ed_full_text_final.pdf

Turner G, Robinson H, Wake S, Laing S and Partington M (1997) Case finding for the fragile X syndrome and its consequences. British Medical Journal 315: 1223–1226.

Vasen HF, Blanco I, Aktan‐Collan K et al. (2013) Revised Guidelines for the Clinical Management of Lynch Syndrome (HNPCC): Recommendations by a Group of European Experts. Gut 62(6): 812–823.

Vasen HF, Moslein G, Alonso A et al. (2008) Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut 57: 704–713.

Further Reading

British Medical Association (1998) Human Genetics: Choice and Responsibility. Oxford: Oxford University Press.

Consent and Confidentiality in clinical genetic practice. Guidance on Genetic Testing and Sharing Genetic Information. A Report of the Joint Committee on Medical Genetics Second Edition (September 2011). http://www.bsgm.org.uk/media/678746/consent_and_confidentiality_2011.pdf

Department of Health (1996) Genetics and Cancer Services. Report of a Working Group of the Chief Medical Officer. London: Department of Health.

Department of Health (1998) Genetics and Cancer Services. Report of a Working Group for the Department of Health. London: Department of Health.

Department of Health (2002) Quality Markers for Clinical Genetics Services. London: Department of Health.

Nuffield Council on Bioethics (1993) Genetic Screening: Ethical Issues. London: Nuffield Foundation.

Professional Roles in the Multi‐Disciplinary Team in Clinical Genetics. A Framework for Practice Prepared by a Working Party of the Association of Genetic Nurses and Counsellors and Clinical Genetics Society (January 2011). http://www.clingensoc.org/media/43550/wp_agnc_cgs_v2.pdf

Royal College of General Practitioners (1998) Genetics in Primary Care. Occasional Paper 77. London: Royal College of General Practitioners.

Royal College of Physicians (1996) Clinical Genetic Services into the Twenty‐first Century. A Working Party Report. London: Royal College of Physicians.

Royal College of Physicians (1998) Commissioning Clinical Genetic Services. London: Royal College of Physicians.

The Clinical Genetics Society (August 2005, updated October 2012) Clinical Standards for a Genetics Unit. Clinical Governance Sub‐committee. http://www.clingensoc.org/media/43560/clinicalstandards.pdf

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Fryer, Alan(Sep 2014) Clinical Genetic Services in the United Kingdom. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0005622.pub3]