Global approaches to cardiogenetic evaluation after sudden cardiac death in the young: A survey among health care professionals

Lieke M van den Heuvel; Judy Do; Laura Yeates; Heather MacLeod; Cynthia A James; Johan Duflou; Jonathan R Skinner; Christopher Semsarian; J Peter van Tintelen; Jodie Ingles

doi:10.1016/j.hrthm.2021.03.037

Global approaches to cardiogenetic evaluation after sudden cardiac death in the young: A survey among health care professionals

Heart Rhythm. 2021 Oct;18(10):1637-1644. doi: 10.1016/j.hrthm.2021.03.037. Epub 2021 Mar 27.

Authors

Affiliations

¹ Department of Clinical Genetics, Amsterdam UMC, AMC/University of Amsterdam, Amsterdam, The Netherlands; Netherlands Heart Institute, Utrecht, The Netherlands; Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, University of Sydney, Sydney, Australia; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.
² Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, University of Sydney, Sydney, Australia.
³ Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, University of Sydney, Sydney, Australia; Faculty of Medicine and Health, The University of Sydney, Sydney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia.
⁴ Data Coordinating Center for the Sudden Death in the Young (SDY) Registry, Michigan Public Health Institute, Okemos, Michigan.
⁵ Division of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.
⁶ Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.
⁷ Cardiac Inherited Disease Group, Auckland, New Zealand; Heart Centre for Children, Sydney Children's Hospital Network, Sydney, Australia.
⁸ Netherlands Heart Institute, Utrecht, The Netherlands; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.
⁹ Faculty of Medicine and Health, The University of Sydney, Sydney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia; Cardio Genomics Program at Centenary Institute, The University of Sydney, Sydney, Australia. Electronic address: j.ingles@centenary.org.au.

PMID: 33781984
DOI: 10.1016/j.hrthm.2021.03.037

Abstract

Background: 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.

Objective: The purpose of this study was to explore practices of postmortem genetic testing and attitudes of health care professionals worldwide.

Methods: A survey was administered among health care professionals recruited through professional associations, social media, and networks of researchers. Topics included practices around postmortem genetic testing, level of confidence in health care professionals' ability, and attitudes toward postmortem genetic testing practices.

Results: There were 112 respondents, with 93% from North America, Europe, and Australia/New Zealand, and 7% from South America, Asia and Africa. Only 30% reported autopsy as mandatory, and overall practices were largely case by case and not standardized. North American respondents (87%) more often perceived practices as ineffective compared to those from Europe (58%) and Australia/New Zealand (48%; P = .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 of participants 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, which is critical in ascertaining a cause of death in many cases, must be guided by well-resourced, multidisciplinary teams.

Keywords: Health care professionals; Postmortem genetic testing; Procedures; Sudden cardiac death; Survey.

Publication types

Multicenter Study
Research Support, Non-U.S. Gov't

MeSH terms

Attitude of Health Personnel*
Autopsy / methods*
Cross-Sectional Studies
Death, Sudden, Cardiac / epidemiology
Death, Sudden, Cardiac / pathology*
Genetic Counseling
Genetic Testing
Global Health
Health Personnel / psychology*
Humans
Incidence
Pathologists / psychology*
Surveys and Questionnaires*