Active management in Serious Genetic Disorders

Abstract

Twenty years ago we were taught to classify the cause of any medical condition into those that were 'genetic' and those that were 'acquired'.  Subsequently the acquired group could be subdivided according to aetiology. Either directly or by implication we were told that genetic disorders were untreatable and that they were always rare, making up an insignificant proportion of medical practice. This article gives a personal view of the field of medical genetics and is based on two established facts, firstly that genetic diseases are now so frequent that every doctor should be conversant with basic genetic principles. Secondly many genetic conditions if not amenable to curative treatment, are at least responsive to careful management which can prolong and increase the quality of life. At this stage we should emphasise one other aspect, which concerns the philosophy behind genetic counselling. Such counselling is not just the calculation of empiric or theoretical risks that a disease will recur, followed by telling the family and then leaving them to come to terms with unpleasant probabilities. In genetic counselling the range of options open to different members of a family can be fully explained in the light of their risks. At the same time counselling of a wider nature can be offered providing emotional support to many members of the family. By allowing individuals within a family to come to terms with the emotional aspects of an inherited condition, counselling, not necessarily provided by a genetic counsellor alone can be actively therapeutic. Let us now select some severe disorders with a major genetic component and examine the therapeutic approaches available.