Cystic fibrosis (CF) has high incidence (1/936 live births) and carrier rat
e (1/15 inhabitants) in Saguenay-Lac-Saint-Jean (SLSJ). One objective of a
major enquiry among several subsets of individuals from this high-risk popu
lation for CF was to evaluate the knowledge of the disease and its genetic
transmission. The overall score of correct answers pertaining to the clinic
al signs of CF among medical doctors (general practitioners and specialists
) was 42.2 and 65.6%, respectively; it was 84.2% for questions regarding th
e genetic transmission of CE The knowledge of the clinical signs was reason
able among CF patients and their parents (about 65% of correct answers), bu
t it was much higher for the genetics lover 88% among parents). Aunts and u
ncles of CF children were poorly informed of the clinical signs (33.9% of c
orrect answers) but well informed of the genetic transmission (73.8%). Spec
ific 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 ge
netic transmission. (C) 2001 Elsevier Science Ireland Ltd. All rights reser
ved.