title: Cystic fibrosis carrier screening in a North American population.
abstract: OBJECTIVE
  The aim of this study was to compare the mutation frequency distribution for a 32-mutation panel and a 69-mutation panel used for cystic fibrosis carrier screening. Further aims of the study were to examine the race-specific detection rates provided by both panels and to assess the performance of extended panels in large-scale, population-based cystic fibrosis carrier screening. Although genetic screening for the most common CFTR mutations allows detection of nearly 90% of cystic fibrosis carriers, the large number of other mutations, and their distribution within different ethnic groups, limits the utility of general population screening.
  
  
  METHODS
  Patients referred for cystic fibrosis screening from January 2005 through December 2010 were tested using either a 32-mutation panel (n = 1,601,308 individuals) or a 69-mutation panel (n = 109,830).
  
  
  RESULTS
  The carrier frequencies observed for the 69-mutation panel study population (1/36) and Caucasian (1/27) and African-American individuals (1/79) agree well with published cystic fibrosis carrier frequencies; however, a higher carrier frequency was observed for Hispanic-American individuals (1/48) using the 69-mutation panel as compared with the 32-mutation panel (1/69). The 69-mutation panel detected ~20% more mutations than the 32-mutation panel for both African-American and Hispanic-American individuals.
  
  
  CONCLUSIONS
  Expanded panels using race-specific variants can improve cystic fibrosis carrier detection rates within specific populations. However, it is important that the pathogenicity and the relative frequency of these variants are confirmed.
authors.affiliation: Department of Molecular Genetics, Center for Molecular Biology and Pathology, Laboratory Corporation of America, Research Triangle Park, North Carolina, USA.
authors.forename: Val V
authors.initials: VV
authors.lastname: Zvereff
authors.affiliation: Department of Molecular Genetics, Center for Molecular Biology and Pathology, Laboratory Corporation of America, Research Triangle Park, North Carolina, USA.
authors.forename: Hawazin
authors.initials: H
authors.lastname: Faruki
authors.affiliation: Department of Molecular Genetics, Center for Molecular Biology and Pathology, Laboratory Corporation of America, Research Triangle Park, North Carolina, USA.
authors.forename: Marcia
authors.initials: M
authors.lastname: Edwards
authors.affiliation: Department of Molecular Genetics, Center for Molecular Biology and Pathology, Laboratory Corporation of America, Research Triangle Park, North Carolina, USA.
authors.forename: Kenneth J
authors.initials: KJ
authors.lastname: Friedman
mesh_terms: D001741:Black or African American / Q000706:statistics & numerical data*; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D006630:Hispanic or Latino / Q000706:statistics & numerical data*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D014481:United States / Q000453:epidemiology; D044465:White People / Q000706:statistics & numerical data*
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator