Disease knowledge in a high-risk population for cystic fibrosis

Abstract Cystic fibrosis (CF) has high incidence (1/936 live births) and carrier rate (1/15 inhabitants) in Saguenay-Lac-Saint-Jean (SLSJ). One objective of a major enquiry among several subsets of individuals from this high-risk population for CF was to evaluate the knowledge of the disease and its genetic transmission. The overall score of correct answers pertaining to the clinical signs of CF among medical doctors (general practitioners and specialists) was 42.2 and 65.6%, respectively; it was 84.2% for questions regarding the genetic transmission of CF. The knowledge of the clinical signs was reasonable among CF patients and their parents (about 65% of correct answers), but it was much higher for the genetics (over 88% among parents). Aunts and uncles of CF children were poorly informed of the clinical signs (33.9% of correct answers) but well informed of the genetic transmission (73.8%). Specific subsets of the SLSJ population showed important gaps in the knowledge of the clinical signs of CF but, overall, they were well informed of its genetic transmission.