Sudden death and genetic testing

Background: Sudden death in people younger than 45 years is often a consequence of inherited heart disease. For this reason, autopsy and genetic testing of relatives for familial heart diseases is recommended. However, in the Netherlands these procedures are performed in the minority of cases only. The aim of this study was to investigate what factors hinder implementation of recommended procedures. Methods: During four semi-structured focus group meetings with 7-9 general practitioners (GPs) and/or coroners, participants discussed problems they encountered at different times during these procedures: certifying death due to natural causes, asking permission from relatives to perform an autopsy, and, in the case of GPs, referring relatives for genetic testing. Participants were also asked about possible solutions to these problems. Results: There were several logistic, financial, and emotional difficulties to providing a medical certificate of the cause of death as being from natural causes and asking permission for autopsy, as well as problems in the interaction between GPs and coroners. GPs had little experience with the recommended procedures and were often insufficiently aware of the importance of familial screening in the case of sudden death. Coroners often felt they are unjustifiably placed in the role of healthcare provider if GPs left the issuing of the medical death certificate and the request for autopsy to them. The participants suggested several solutions for these problems. Conclusion: Several factors hinder the implementation of recommended procedures in the case of sudden death in young individuals. A national guideline seems ineffective, but a different system for the reimbursement of costs, information for GPs, and the appointment of national case managers to ensure that legal and medical aspects are handled according to recommended procedures might increase the number of autopsies performed in the case of sudden death and possibly reduce the number of sudden deaths. © 2013 Bohn, Stafleu van Loghum