Variables influencing parental perception of inherited metabolic diseases before and after genetic counselling

Abstract

The present study was undertaken to characterize the variables that influence parental perception of metabolic disorders and their genetic origin before and after genetic counselling, the effect of counselling on parental attitudes towards prenatal diagnosis and pregnancy termination, and the factors affecting parental coping with burden.

Parents of children with metabolic diseases from 32 Arab-Muslim families were interviewed, answering a pre-structured questionnaire. These interviews indicate the following. (1) Traditional belief and religious commitment are more important determinants than education in parental perception of inherited metabolic diseases. (2) The number of affected children has a greater impact on parental evaluation of the burden than the number of healthy children. The social component, i.e. the way families are viewed by society, is the most significant factor of the burden. (3) Parents use different techniques to divide responsibility regarding reproduction. Having a healthy child and the availability of prenatal diagnosis and pregnancy termination were the two most important factors in parental reproductive decision making. In the absence of a healthy child and when the burden was perceived as too heavy, parents tended ‘not to decide’. (4) Parental attitude to pregnancy termination was dependent on two factors: religious commitment (leading to objection) and severity of disease (leading to flexibility and approval). (5) In almost all families, genetic counselling altered parental perception of the disease and its hereditary origin.

We conclude that genetic counselling and population education may be helpful in the prevention of consanguineous marriages and in family planning, even in a society that values traditional beliefs very highly.