Emerging Ethical Issues in Genetic Testing for Sudden Cardiac Death Syndromes: Care in the Age of Uncertainty

Michelle Mullen, Robert Gow
Paediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Canada

Aims: To report ethical, privacy and policy concerns experienced by cardiogenetics experts (geneticists, genetic counselors, cardiologists) and patients/families affected by sudden cardiac death (SCD) in the context of genetic testing for risk. To explore these concerns in the context of increasing capacity to test for SCD mutations by microarray analysis. To posit ethical practice and approaches to mitigate the moral distress which testing for SCD may elicit.

Methods and Results: Surveys of Canadian SCD health providers and patients/families affected by SCD were developed and administered electronically. The surveys consisted of four fictional ethics scenarios each involving genetic screening with each scenario followed by close-ended questions anchored by a 5-point Likert scale. Designed principally as a quantitative study, participants were invited to comment about each question and make general comments at the close of the survey, owing to the novel nature of the material.

A surprising result has been than greater than 50% of participants in each arm (both health care providers and patients/families) made detailed comments to a majority of the numeric survey questions. By contrast, while health care providers appear to be more concerned about a duty to warn (pilot at risk for SCD), patients and families are more concerned about child protection issues (child at risk for SCD). Overall results indicate that health care providers struggle with both duty to warn and child protection scenarios in their cardiogenetics practice. While these are of concern to patients/families, their unique experience raises concerns about how the prospect of genetic testing and the risk of SCD are operationalized within families.

Conclusion: Cardiogenetics holds much promise in the identification of otherwise healthy individuals at risk for SCD yet raises novel ethical concerns to be managed. These concerns are discussed within an ethical framework to offer practical guidance.