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Clinical Indications for Genetic Testing in Familial Sudden Cardiac Death Syndromes: an HRUK Position Statement
  1. Heart Rhythm UK Familial Sudden Death Syndromes Statement Development Group
  1. Statement Development Group, United Kingdom
    1. Clifford J Garratt (clifford.garratt{at}cmmc.nhs.uk)
    1. University of Manchester, United Kingdom
      1. Perry M Elliott (perry.elliott{at}uclh.org)
      1. University College, London, United Kingdom
        1. Elijah Behr
        1. St George's, University of London, United Kingdom
          1. Edward Blair
          1. Churchill Hospital, Oxford, United Kingdom
            1. Derek Connelly
            1. Glasgow and President, Heart Rhythm, United Kingdom
              1. Campbell Cowan
              1. Clinical Lead for Arrhythmias, Heart Improvement Programme, United Kingdom
                1. Neil Davidson
                1. Wythenshawe Hospital, Manchester, United Kingdom
                  1. Andrew Grace
                  1. Papworth Hospital, Cambridge, United Kingdom
                    1. Michael Griffith
                    1. Queen Elizabeth Hospital, Birmingham, United Kingdom
                      1. Anne Jolly
                      1. Patients' Representative, Chairperson SADSUK, United Kingdom
                        1. Pier Lambiase
                        1. University College, London, United Kingdom
                          1. William McKenna
                          1. University of London, United Kingdom

                            Abstract

                            Introduction The sudden unexpected death of a young person can have profound implications for the surviving family members beyond those associated with bereavement and the immediate sense of loss. Amongst these other sequelae may be a concern that the sudden death was caused by a genetic condition and that other family members may suffer the same fate. Increased awareness of these inherited conditions and the transfer of the techniques of genetic testing from the research laboratory into the clinical arena, make it possible to identify genetically affected individuals before they suffer symptoms or experience sudden cardiac death. The development of such tests has been paralleled by the emergence of preventative therapies and treatments, which has amplified the clinical importance of such tests. In the United Kingdom, the fact that effective evaluation of relatives, guided by genetic testing, can prevent further deaths in the family has been acknowledged in the National Service Framework for Coronary disease1. It is a quality requirement of this Framework that, "when sudden cardiac death occurs, NHS services have systems in place to identify family members at risk and provide personally tailored, sensitive and expert support, diagnosis, treatment, information and advice to close relatives". Although genetic testing forms a part of this process, its role varies with different tests and in different conditions. The overall objective of this document is to provide recommendations regarding the clinical indications for specific genetic tests for the familial sudden cardiac death syndromes based on the best available evidence. The clinical questions covered by this statement relate to the specific clinical circumstances in which genetic testing is likely to be most useful and the target population is the group of patients and their relatives considered to be at possible risk from one of these syndromes. The target users of this statement included all health care professionals involved in the management of this population.

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