title: Carrier screening for cystic fibrosis: costs and clinical outcomes.
abstract: OBJECTIVE
  To evaluate the costs and clinical effects of 16 alternative strategies for cystic fibrosis (CF) carrier screening in the reproductive setting; and to test the sensitivity of the results to assumptions about cost and detection rate, stakeholder perspective, DNA test specificity, chance of nonpaternity, and couples' reproductive plans.
  
  
  METHODS
  Cost-effectiveness analysis.
  
  
  RESULTS
  A sequential screening strategy had the lowest cost per CF birth avoided. In this strategy, the first partner was screened with a standard test that identifies 85% of carriers. The second partner was screened with an expanded test if the first partner's screen was positive. This strategy identified 75% of anticipated CF births at a cost of $367,000 each. This figure does not include the lifetime medical costs of caring for a patient with CF, and it assumes that couples who identify a pregnancy at risk will choose to have prenatal diagnosis and termination of affected pregnancies. The cost per CF birth identified is approximately half this figure when couples plan two children.
  
  
  CONCLUSIONS
  The cost-effectiveness of CF carrier screening depends greatly on couples' reproductive plans. CF carrier screening is most cost-effective when it is performed sequentially, when the information is used for more than one pregnancy, and when the intention of the couple is to identify and terminate affected pregnancies. These conclusions are important for policy considerations regarding population-based screening for CF, and may also have important implications for screening for less common diseases.
authors.affiliation: Veterans Affairs Medical Center, Philadelphia, Pennsylvania, USA. asch@wharton.upenn.edu
authors.forename: D A
authors.initials: DA
authors.lastname: Asch
authors.forename: J C
authors.initials: JC
authors.lastname: Hershey
authors.forename: M L
authors.initials: ML
authors.lastname: Dekay
authors.forename: M V
authors.initials: MV
authors.lastname: Pauly
authors.forename: J P
authors.initials: JP
authors.lastname: Patton
authors.forename: M K
authors.initials: MK
authors.lastname: Jedrziewski
authors.forename: F
authors.initials: F
authors.lastname: Frei
authors.forename: R
authors.initials: R
authors.lastname: Giardine
authors.forename: J A
authors.initials: JA
authors.lastname: Kant
authors.forename: M T
authors.initials: MT
authors.lastname: Mennuti
mesh_terms: D003362:Cost-Benefit Analysis; D003550:Cystic Fibrosis / Q000235:genetics / Q000517:prevention & control*; D003663:Decision Trees; D005260:Female; D006580:Genetic Carrier Screening; D005820:Genetic Testing / Q000191:economics / Q000592:standards; D017048:Health Care Costs; D006801:Humans; D010298:Parity; D011247:Pregnancy; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity