THE INFLUENCE OF GENETIC-COUNSELING IN THE ERA OF DNA TESTING ON KNOWLEDGE, REPRODUCTIVE INTENTIONS AND PSYCHOLOGICAL WELL-BEING

Subjects of reproductive age at risk of having an affected child with a severe single gene disorder such as Duchenne muscular dystrophy (DMD ) or cystic fibrosis (CF) were surveyed to ascertain: their views on g enetic counselling and antenatal testing; their knowledge of their ris k of having an affected child; and their psychological wellbeing. Ques tionnaires were posted to 209 individuals at 130 addresses; a 65% resp onse rate was achieved. The majority of those surveyed were under 40 y ears of age (91%), half of them had received genetic counselling only once and for 47% the first encounter was after the diagnosis of their affected child. Most patients expressed their intention to use prenata l testing. However, less than 50% of those counselled knew their risk of having an affected child. Knowledge of risk was associated with the type of disease in the family (p<0.001) (inheritance of DMD was poorl y understood by relevant subjects) and was positively associated with the participant's level of education (p<0.05). We did not detect a sig nificant association between the number of intended children and the r isk of having an affected child. In terms of family relations, genetic counselling appears to be beneficial for the nuclear family, the coup le and their children, but some counsellees reported a deterioration i n relations with other relatives. The results indicate that couples at risk of having a child with a severe genetic disorder value the couns elling provided, but many of them do not remember important facts in r elation to their risk status.