Genetic screening for cystic fibrosis: An overview of the science and the economics

Abstract

The aim of this paper is to provide an overview of the current scientific and economic thinking on the use of genetic technologies for cystic fibrosis (CF) screening. The paper takes a public health genetics viewpoint and gives an overview of the genetics behind CF, then describes current practices in screening for the disease. We then discuss the current literature on the economic evaluations of screening for CF. As the "wet" science improves, there are direct implications for health service. Therefore, it is important to keep examining both clinical practice and economics behind the technologies.

One-Year Evaluation of a Neonatal Screening Program for Cystic Fibrosis in Switzerland

“…The genetic confirmation of the diagnosis was available, on average, on the 34 th day of life. Screening met with high acceptance among parents and physicians; the number of refusals of NBS was comparable to that observed in previous years, before CF screening was added (5 versus 6.4 refusals per year in 2006 to 2010; range, [4][5][6][7][8][9][10][11]. None of the refusers mentioned the new CF screening as a reason for refusal.…”

“…The first newborn screening (NBS) programs for CF were introduced in New Zealand and Australia in 1981 (3). The timely diagnosis and treatment of CF improves the affected infants' food intake and digestion, growth, brain development, and lung function and lowers the frequency of CF exacerbations and hospitalizations (4,5).…”

Recommendations to Improve Physical Activity Prescription for the Cystic Fibrosis Population: An Irish Perspective

“…Cystic brosis (CF) is an autosomal recessive disorder characterized by the abnormal functioning of the CF transmembrane conductance regulator (CFTR) protein that is essential for the regulation of transmembrane chloride reabsorption (1). It is a multisystem disorder involving abnormal function of chloride channels in secretory epithelial cells lining the airways, digestive system, reproductive system, and the skin and results in increased morbidity and mortality (2).…”

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

“…The first nationwide NBS for CF began in New Zealand and New South Wales (Australia) in 1981 [6]. With the detection of the CF transmembrane regulator (CFTR) gene in 1989, a two step screening was introduced with measurement of IRT being the first and the confirmation of a CFTR mutation being the second step [7][8][9]. Since then, many European regions and countries have introduced NBS for CF, however, more than 25 screening programs have been developed, with quite marked variation in protocol design [7].…”