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Genetic registers in clinical practice: a survey of UK clinical geneticists
  1. JOHN C S DEAN*,
  1. * Department of Medical Genetics, Grampian University Hospitals NHS Trust, UK
  2. South East Scotland Clinical Genetics Service, Western General Hospital, Edinburgh, UK
  3. Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham, UK
  4. § Regional Genetics Service, St Mary's Hospital, Manchester, UK
  5. Department of Law, Aberdeen University, UK
  1. Dr Dean, Department of Medical Genetics, Medical School, Foresterhill, Aberdeen AB25 2ZD, UK,j.dean{at}

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Editor—Genetic registers have now been in use in the United Kingdom for nearly 30 years,1 although they are not widespread in Europe.2 They are an integral part of most UK medical genetics services3 and yet their functions vary from centre to centre. Many registers were originally developed for research purposes, often in connection with one specific inherited disease,4 while others, designed for service use, may cater for many genetic disorders. The WHO report of 1969 suggested that a list or register of pedigree data should be maintained by each genetic centre,5 although the purpose of the list was not specified. In its 1972 report,6 the WHO recommended setting up of family orientated genetic registries as part of a system to provide counselling and diagnostic services, treatment, and long term follow up for patients with genetic disorders. In 1978, the definition of genetic register functions was clarified by Emeryet al,1 who suggested five main roles, which are not mutually exclusive. These were the clinical or therapeutic role (follow up and recall), the reference list, to monitor outcomes of service provision, to act as a research tool, and to assist in the prevention of genetic disease through complete ascertainment and family follow up. Since that time, the use of genetic registers for family follow up at predetermined times has been advocated to inform younger family members of their genetic risks when they reach maturity3 4 or to carry out interval screening for complications of genetic disorders, such as in Marfan syndrome7 or the familial cancers.8Discussion with colleagues suggested that a diversity of practice in the use of genetic registers in different UK genetic centres has arisen, perhaps because of differing funding priorities. This could raise quality issues …

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