Global approaches to postmortem genetic testing after sudden cardiac death in the young: A survey among healthcare professionals [article]

Lieke van den Heuvel, Judy Do, Laura Yeates, Heather MacLeod, Cynthia James, Johan Duflou, Jonathan Skinner, Chris Semsarian, J. Peter van Tintelen, Jodie Ingles
2020 medRxiv   pre-print
Purpose: Thorough investigation of sudden cardiac death (SCD) in those aged 1-40 years commonly reveals a heritable cause, yet access to postmortem genetic testing is variable. We explore practices of postmortem genetic testing and attitudes of healthcare professionals worldwide. Methods: A survey was administered among healthcare professionals recruited through professional associations, social media and networks of researchers. Topics included practices around postmortem genetic testing,
more » ... of confidence in healthcare professionals ability, and attitudes towards postmortem genetic testing practices. Results: There were 112 respondents, with 93% from North America, Europe and Australia and 7% from South America, Asia and Africa. Only 30% reported autopsy as mandatory, and overall practices were largely case-by-case and not standardised. North American respondents (87%) more often perceived practices as ineffective compared to those from Europe (58%) and Australia/New Zealand (48%, p=0.002). Where a heritable cause is suspected, 69% considered postmortem genetic testing and 61% offered genetic counseling to surviving family members; financial resources varied widely. Half believed practices in their countries perpetuated health inequalities. Conclusion: Postmortem genetic testing is not consistently available in the investigation of young SCD despite being a recommendation in international guidelines. Access to postmortem genetic testing, guided by well-resourced multidisciplinary teams, is critical in ascertaining a cause of death in many cases.
doi:10.1101/2020.12.23.20248816 fatcat:b374tztlk5dhvjl2qhiixcncp4