An Ethical Debate: Testing may be unhelpful

Abstract

Once a mutation associated with hypertrophic cardiomyopathy has been identified in a family testing children at risk becomes relatively simple. Ryan and colleagues are aware that such presymptomatic testing is regarded by some as ethically contentious but argue that there are sufficient benefits to justify it. We disagree with this position, but are not opposed to all such testing. We carry out predictive genetic testing programmes in children for some conditions. The case for genetic testing for hypertrophic cardiomyopathy in neonates has not, however, been made. Firstly, there is a potential confusion concerning the word “screening.” We believe that the term genetic screening should be restricted to mass testing of populations or specific groups when the benefits are known and should not be applied to family based testing. The ethical approval for the project will have been granted for a research study aiming at identifying genetic defects giving rise to hypertrophic cardiomyopathy. Did this approval extend to the use of genetic testing of children at risk in a carrier family? Such testing, where there is no clear benefit to the child, should be regarded as a research procedure …