Clinical indications for genetic testing in familial sudden cardiac death syndromes: an HRUK position statement.
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. Among 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 have symptoms or experience sudden cardiac death. The development of such tests has been paralleled by the emergence of preventative treatments, which have amplified the clinical importance of such tests. This document provides recommendations regarding the clinical indications for these tests based on the best available evidence.
Manchester Heart Centre, Manchester Royal Infirmary, Oxford Road, Manchester M13 9WL, UK. clifford.garratt@cmmc.nhs.uk
D000328:Adult; D000367:Age Factors; D003362:Cost-Benefit Analysis; D016757:Death, Sudden, Cardiac / Q000209:etiology* / Q000517:prevention & control; D019317:Evidence-Based Medicine; D005817:Genetic Counseling / Q000379:methods; D030342:Genetic Diseases, Inborn / Q000175:diagnosis; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000191:economics / Q000379:methods*; D006331:Heart Diseases / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D018579:Patient Selection; D012680:Sensitivity and Specificity