CARRIER SCREENING FOR CYSTIC-FIBROSIS - COSTS AND CLINICAL OUTCOMES

Objectives. To evaluate the costs and clinical effects of 16 alternati ve strategies for cystic fibrosis (CF) carrier screening in the reprod uctive setting; and to test the sensitivity of the results to assumpti ons about cost and detection rate, stakeholder perspective, DNA test s pecificity, chance of nonpaternity, and couples' reproductive plans. M ethod. Cost-effectiveness analysis. Results. A sequential screening st rategy had the lowest cost per CF birth avoided. In this strategy, the first partner was screened with a standard test that identifies 85% o f carriers. The second partner was screened with an expanded test if t he first partner's screen was positive. This strategy identified 75% o f anticipated CF births at a cost of $367,000 each. This figure does n ot include the lifetime medical costs of caring for a patient with CF, and it assumes that couples who identify a pregnancy at risk will cho ose to have prenatal diagnosis and termination of affected pregnancies . The cost per CF birth identified is approximately half this figure w hen couples plan two children. Conclusions. The cost-effectiveness of CF carrier screening depends greatly on couples' reproductive plans. C F carrier screening is most cost-effective when it is performed sequen tially, 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 consideration s regarding population-based screening for CF, and may also have impor tant implications for screening for less common diseases.