Clinical Genetics

Abstract

Clinical genetics is a relatively young specialism in the field of medicine. Recent advances in the knowledge of the clinieal and molecular aspects of genetics have led to an increased of diagnostic, prognostic and in some cases even therapeutic possibilities. This progress has also entered cardiology. However, some physicians do not give sufficient information to patients prior to performing a genetic test and not aB other physicians have yet the skills or knowledge to interpret results of genetic tests correctly, as was Recently shown in a study of patients with a hereditary form of colorectal cancer, familial adenomatous polyposis [1]. Because genetic aspects of health and disease are substantial to an individual, both in a physical and psyehologieal way, it is important for physieians to be aware of these elements. They have to be properly trained to be able to handle both “ technicallmedieal” and “ emotionallpsyehosoeial” elements of genetic (aspects of) disease in their patients. Besides it is important that cardiologists and physicians are able to recognise their limitations so that co-operation with clinical geneticists can be established. There is an inereasing awareness that cardiologieal disorders can be familial. This not only holds true for some disorders following an established, so called monogenie or mendelian inheritance pattern like long QT syndrome (LQTS), hypertrophic and dilated cardiomyopathy (HCM, DCM) or arrhythmogenic right ventricular cardiomyopathy (ARVC), but also more common for multifactorial or polygenic inherited diseases in cardiology like coronary heart disease, coagulation disorders, hypertension etc.