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In addition to the undisputable medical benefits (1) it was the economic considerations in particular that have persuaded many health authorities to introduce neonatal screening for cystic fibrosis (CF). In England, the cost savings for drug consumption alone were calculated to be considerably higher than the costs of neonatal screening (2). The authors of this study therefore request that screening should be introduced internationally, since the benefits are important not only for the children and their parents, but also economically.

In Switzerland, screening costs are reimbursed at 5 Swiss Francs (SFr.) per child. For 83 198 screened children and 31 diagnosed cases of CF in 2011, this equates to 13 419 SFr. per treatable CF patient. Economically, this is a small amount if one assumes that due to neonatal CF screening early therapy can be initiated, and prevent unnecessary visits to doctors, expensive antibiotic therapies, and cost intensive hospital admissions (reimbursed at a cost of 21 186 SFr. for 14 days) in case of delayed clinical diagnosis.

For each screening procedure, the aim is to achieve high sensitivity while keeping the number of false-positive cases as low as possible. In neonatal CF screening, the cut-off for the initial test (immunoreactive trypsinogen) and the selection of CF mutations that are being screened for are the deciding factors. The more CF mutations are included in the screening, the more often asymptomatic CF carriers will be detected, or children with mild variants of the disease, who may not need treatment for many years. Therefore, it has to be the aim of each neonatal CF screening program to avoid capturing children with mild forms and to keep the number of asymptomatic carriers low. In Switzerland this is done by screening only for the seven most common mutations, and only looking for further mutations in children with a positive sweat test. This approach was evaluated carefully before the start of the screening program (3). Furthermore, according to our prospective study (5) and a French study (4) the parents’ fears are minimal and short-lived, if a sweat test has to be undertaken subsequent to a false-positive screening result.

DOI: 10.3238/arztebl.2013.0676b

PD Dr. med. Jürg Barben
Ostschweizer Kinderspital
Abteilung Pneumologie/Allergologie
CH-9006 St. Gallen
juerg.barben@kispisg.ch

Financial support
The two-year pilot project of neonatal screening for cystic fibrosis is supported by the Swiss Cystic Fibrosis Society (Schweizerische Gesellschaft für Cystische Fibrose, CFCH), The Lung Leagues of the Cantons of St. Gallen, Bern, Solothurn, Vaud, Zurich, and Ticino, the Telethon Foundation, the Dr. Pierluigi Crivelli Foundation, the Swiss Federal Office of Public Health, and the Novartis, Abbott, Glaxo, AstraZeneca, Vifor, and Solvay companies. The evaluation of the pilot project was financed by the Swiss Cystic Fibrosis Society and the Swiss Federal Office of Public Health.

Conflict of interest statement
PD Dr Barben received support for this study from the above parties. He has received partial reimbursement of conference and travel expenses from Abbott, is the head of the Swiss CF Screening Task Force, and participated in setting up and conducting the CF Neonatal Screening Program.

1.
Balfour-Lynn IM: Newborn screening for cystic fibrosis: evidence for benefit. Arch Dis Child 2008; 93: 7–10 CrossRef MEDLINE
2.
Sims EJ, Mugford M, Clark A, et al.: Economic implications of newborn screening for cystic fibrosis: a cost of illness retrospective cohort study. Lancet 2007; 369: 1187–95 CrossRef MEDLINE
3.
Barben J, Gallati S, Fingerhut R, et al.: Retrospective analysis of stored dried blood spots from children with cystic fibrosis and matched controls to assess the performance of a proposed newborn screening protocol in Switzerland. J Cyst Fibros 2012; 11: 332–6 CrossRef MEDLINE
4.
Beucher J, Leray E, Deneuville E, et al.: Psychological effects of false-positive results in cystic fibrosis newborn screening: a two-year follow-up. J Pediatr 2010; 156: 771–6 CrossRef MEDLINE
5.
Rueegg CS, Kuehni CE, Gallati S, Baumgartner M, Torresani T, Barben J: One-year evaluation of a neonatal screening program for cystic fibrosis in Switzerland. Dtsch Arztebl Int 2013; 110(20): 356–63 VOLLTEXT
1. Balfour-Lynn IM: Newborn screening for cystic fibrosis: evidence for benefit. Arch Dis Child 2008; 93: 7–10 CrossRef MEDLINE
2. Sims EJ, Mugford M, Clark A, et al.: Economic implications of newborn screening for cystic fibrosis: a cost of illness retrospective cohort study. Lancet 2007; 369: 1187–95 CrossRef MEDLINE
3.Barben J, Gallati S, Fingerhut R, et al.: Retrospective analysis of stored dried blood spots from children with cystic fibrosis and matched controls to assess the performance of a proposed newborn screening protocol in Switzerland. J Cyst Fibros 2012; 11: 332–6 CrossRef MEDLINE
4. Beucher J, Leray E, Deneuville E, et al.: Psychological effects of false-positive results in cystic fibrosis newborn screening: a two-year follow-up. J Pediatr 2010; 156: 771–6 CrossRef MEDLINE
5.Rueegg CS, Kuehni CE, Gallati S, Baumgartner M, Torresani T, Barben J: One-year evaluation of a neonatal screening program for cystic fibrosis in Switzerland. Dtsch Arztebl Int 2013; 110(20): 356–63 VOLLTEXT

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