An Ethical Debate: Genetic testing for familial hypertrophic cardiomyopathy in newborn infants: Clinicians' perspective

Identification of genes for hypertrophic cardiomyopathy has made preclinical diagnosis possible in families with a mutation. As yet, however, no treatment prevents the development of myocardial hypertrophy, and medical intervention has not been shown to improve prognosis. A team from Hammersmith Hospital carrying out research into genetic causes of the disease report that they were asked by a couple to screen their daughter at birth. The couple also give their view of screening. We asked two medical geneticists, a cardiologist, and a paediatrician with an interest in ethics to comment on the implications.

Hypertrophic cardiomyopathy is inherited as an autosomal dominant but has considerable genetic and phenotypic heterogeneity.1 2 Clinical screening is inaccurate. Several patients from affected families in whom the diagnosis had previously been excluded by electrocardiography and echocardiography have since been shown to have a mutation of the cardiac β myosin heavy chain gene MYH7.3 Once a mutation of MYH7 has been identified in a family genetic testing is relatively …