title: Cystic fibrosis carrier screening in a high-risk population. Participation based on a traditional recruitment process.
abstract: OBJECTIVE
  Recent advances in molecular genetic (DNA) technology have permitted identification of previously undetectable cystic fibrosis (CF) carriers. Although research has been initiated in the general population, to our knowledge no published studies have looked at the utilization of DNA-based carrier screening in the high-risk CF population (family history of CF).
  
  
  METHODS
  Cross-sectional, diagnostic open trial.
  
  
  METHODS
  Carrier testing was offered to a high-risk CF population via adult patients with CF or parents of pediatric patients with CF attending two regional CF clinics over a 3-year period.
  
  
  METHODS
  Consecutive sample of virtually all patients with CF (n = 118) from a population of 1 million.
  
  
  RESULTS
  Despite free services, written follow-up, and counseling for 99% of patients attending the CF clinic, there was less than 10% participation from high-risk family members (168 blood relatives and 26 spouses of identified carriers or patients with CF; 38 and 156 persons from the adult and pediatric clinic families, respectively). Nevertheless, we identified 91 CF carriers among the 168 high-risk relatives. This is comparable to the number of carriers detected in general population carrier screening that has tested substantially more individuals (> 3000 per study).
  
  
  CONCLUSIONS
  Our results suggest that research concerning CF carrier screening not only focus on data about fundamental program resources and numbers of carriers detected but also investigate how information about the availability of carrier screening is disseminated, the motivation behind testing, and the perceived relevance of test results by those tested in the high-risk population. These issues are increasingly relevant as screening becomes feasible using DNA testing for far more prevalent disorders (such as breast cancer and diabetes).
authors.affiliation: Division of Genetics, Children's Hospital of Eastern Ontario, Ottawa.
authors.forename: L C
authors.initials: LC
authors.lastname: Surh
authors.forename: M
authors.initials: M
authors.lastname: Cappelli
authors.forename: N E
authors.initials: NE
authors.lastname: MacDonald
authors.forename: G
authors.initials: G
authors.lastname: Mettler
authors.forename: R E
authors.initials: RE
authors.lastname: Dales
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002170:Canada / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012307:Risk Factors
chemical_list: D004247:DNA