Economic implications of newborn screening for cystic fibrosis: a cost of illness retrospective cohort study.

Background: Newborn screening for cystic fibrosis might not be introduced if implementation and running costs are perceived as prohibitive. Compared with clinical diagnosis, newborn screening is associated with clinical benefit and reduced treatment needs. We estimate the potential savings in treatment costs attributable to newborn screening.

Methods: Using the UK Cystic Fibrosis Database, we used a prevalence strategy to undertake a cost of illness retrospective snapshot cohort study. We estimated yearly costs of long-term therapies and intravenous antibiotics for 184 patients who were diagnosed as a result of screening as newborn babies, and 950 patients who were clinically diagnosed aged 1-9 years in 2002. Costs of adding cystic fibrosis screening to an established newborn screening service in Scotland were adjusted to 2002 prices and applied to the UK as a whole. Costs were recalculated in US$.

Findings: Cost of therapy for patients diagnosed by newborn screening was significantly lower than equivalent therapies for clinically diagnosed patients: mean ($7228 vs $12 008, 95% CI of difference -6736 to -2028, p<0.0001) and median ($352 vs $2442, -1916 to -180, p<0.0001). When we limited the clinically diagnosed group to only those diagnosable with a 31 cystic fibrosis transmembrane regulator mutation assay and assumed similar disease progression in the clinically diagnosed group as in the newborn screening group, we showed that mean ($3,397,344) or median ($947,032) drug cost savings could have offset the estimated cost of adding cystic fibrosis to a UK national newborn screening service ($2,971,551).

Interpretation: Including indirect costs savings, newborn screening for cystic fibrosis might have even greater financial benefits to society than our estimate shows. Clinical, social, and now economic evidence suggests that universal newborn screening programmes for cystic fibrosis should be adopted internationally.