Comparison of the background, needs, and expectations for genetic counseling of adults with experience with Down syndrome, Marfan syndrome, and neurofibromatosis

Abstract

We describe an analysis of the responses of 605 adults with experience with Down syndrome, Marfan syndrome, or neurofibromatosis (NF) to the BNE Scale, a scale specifically designed to assess the background, needs, and expectations (BNE) of genetic counseling patients. Significant group differences were found. Specifically, the respondents in the Down syndrome group reported more favorable beliefs about the condition and the availability of social support than the respondents in the other groups. Respondents in the NF group reported more unsureness about their condition and a greater need for genetic information than members of the other groups. Notably, having positive feelings about the condition was negatively correlated with support group interest for respondents of the Marfan syndrome group (r = -0.159, P < 0.01). Having an affected child was associated with interest in health provider input (t = -3.4; P = 0.001) and the desire to talk about psychosocial issues (t = -2.9; P = 0.004). However, previous experience with genetic counseling was not found to affect BNE. These results support the usefulness of the BNE Scale to compare the BNE of patient groups, as well as provide important insight into the BNE of individuals seeking counseling about Down syndrome, Marfan syndrome, and NF.