Jonathan McCormick

Cystic Fibrosis Diagnosed After 2 Months of Age Leads to Worse Outcomes and Requires More Therapy

OBJECTIVE. Newborn screening for cystic fibrosis remains controversial because improved pulmonary function has not been established. Studies to date have not accounted for differences in treatments delivered to clinically diagnosed children and newborn-screened controls. Here, we compare outcomes and treatment of patients clinically diagnosed within the newborn-screening reporting window (early-clinically diagnosed), those presenting after this period (late-clinically diagnosed), and patients diagnosed by newborn screening. PATIENTS AND METHODS. In a cross-sectional analysis of cohorts retrospectively ascertained, patients who were homozygous ΔF508 with cystic fibrosis, attending specialist cystic fibrosis centers, and 1 to 10 years of age between 2000 and 2002 were identified from the United Kingdom Cystic Fibrosis Database and stratified into newborn-screened, early-clinically diagnosed, or late-clinically diagnosed cohorts. Two analyses were performed: (1) after restricting to the most recent year of data collection, early-clinically diagnosed and late-clinically diagnosed cohorts were matched to newborn-screened patients by patient age and year of data collection (133 patients per cohort were identified); and (2) for all years of data collection, annual sets of data for early-clinically diagnosed and late-clinically diagnosed patients were matched to newborn-screened patients by patient age and year of data collection (291 data sets per cohort were identified). Median height and weight z scores, proportion of patients with height and weight <10th percentile, prevalence of chronic Pseudomonas aeruginosa infection, Shwachman-Kulczyki morbidity scores, percent predicted forced expiratory volume in 1 second, and numbers of long-term therapies were compared. RESULTS. In both analyses, newborn screening was associated with higher height z score, higher Shwachman-Kulczyki score, lower likelihood of height <10th percentile, and fewer long-term therapies compared with late-clinically diagnosed patients. No other differences were found. CONCLUSIONS. Newborn screening was associated with improved growth, reduced morbidity, and reduced therapy, yet generated equivalent pulmonary outcome compared with late clinical diagnosis, suggesting that newborn screening may slow cystic fibrosis lung disease progression.

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

Demographics of the UK cystic fibrosis population: implications for neonatal screening

. FINDINGS Cost of therapy for patients diagnosed by newborn screening was significantly lower than equivalent therapies for clinically diagnosed patients: mean (

Oxygen saturation targets in infants with bronchiolitis (BIDS): a double-blind, randomised, equivalence trial

7228 vs

An observational study of matrix metalloproteinase (MMP)-9 in cystic fibrosis

12 008, 95% CI of difference -6736 to -2028, p<0.0001) and median (

Comparative demographics of the European Cystic Fibrosis population: does EU membership confer an advantage?

352 vs

WS09.7 The CF CARE programme for adherence training in the CF multidisciplinary team

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 (

Comparative demographics of the European cystic fibrosis population: a cross-sectional database analysis

3,397,344) or median (

Neonatal screening for cystic fibrosis is beneficial even in the context of modern treatment

947,032) drug cost savings could have offset the estimated cost of adding cystic fibrosis to a UK national newborn screening service (

Comparative analysis of Cystic Fibrosis Registry data from the UK with USA, France and Australasia

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.