Background: The use of neonatal screening for cystic fibrosis is widely debated in the United Kingdom and elsewhere, but the evidence available to inform policy is limited. This paper explores the cost-effectiveness of adding screening for cystic fibrosis to an existing routine neonatal screening programme for congenital hypothyroidism and phenylketonuria, under alternative scenarios and assumptions.
Methods: The study is based on a decision model comparing screening to no screening in terms of a number of outcome measures, including diagnosis of cystic fibrosis, life-time treatment costs, life years and QALYs gained. The setting is a hypothetical UK health region without an existing neonatal screening programme for cystic fibrosis.
Results: Under initial assumptions, neonatal screening (using an immunoreactive trypsin/DNA two stage screening protocol) costs 5,387 pound sterling per infant diagnosed, or 1.83 pound sterling per infant screened (1998 costs). Neonatal screening for cystic fibrosis produces an incremental cost-effectiveness of 6,864 pound sterling per QALY gained, in our base case scenario (an assumed benefit of a 6 month delay in the emergence of symptoms). A difference of 11 months or more in the emergence of symptoms (and mean survival) means neonatal screening is both less costly and produces better outcomes than no screening.
Conclusion: Neonatal screening is expensive as a method of diagnosis. Neonatal screening may be a cost-effective intervention if the hypothesised delays in the onset of symptoms are confirmed. Implementing both antenatal and neonatal screening would undermine potential economic benefits, since a reduction in the birth incidence of cystic fibrosis would reduce the cost-effectiveness of neonatal screening.