title: Knowledge of nephrologists and patients about autosomal dominant polycystic kidney disease (ADPKD).
abstract: Because of the availability of presymptomatic testing for autosomal dominant polycystic kidney disease (ADPKD), we assessed the response of nephrologists, patients, and at-risk relatives to the introduction of a genetic counselling program for ADPKD. Fifty-six of seventy-six nephrologists responded. Ninety-eight percent reported 'generally' telling their patients that the disease was hereditary, but fewer reported screening relatives (81% for children and 70% for siblings and parents). Ninety percent were interested in referring patients to the service. Fourteen of the 24 patients in one renal clinic and 18 of their at-risk relatives were interviewed. Ten of the patients but only five of the relatives stated that the disease was hereditary. The precise mechanism of inheritance was poorly understood by most patients and relatives. Of 21 patients offered genetic counselling, nine made appointments to see the genetic counsellor. There remains a large gap between advancing technology and the delivery of information to at-risk populations.
authors.affiliation: Division of Clinical Epidemiology, Montreal General Hospital, Quebec.
authors.forename: E E
authors.initials: EE
authors.lastname: Rosenberg
authors.forename: T N
authors.initials: TN
authors.lastname: Tannenbaum
authors.forename: S D
authors.initials: SD
authors.lastname: Miller
authors.forename: E M
authors.initials: EM
authors.lastname: Lamothe
authors.forename: D S
authors.initials: DS
authors.lastname: Rosenblatt
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D005817:Genetic Counseling; D007722:Health Knowledge, Attitudes, Practice; D006801:Humans; D008297:Male; D008875:Middle Aged; D010353:Patient Education as Topic; D010819:Physician's Role; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics*