Cystic fibrosis carrier screening

Abstract

Carrier screening for cystic fibrosis (CF) has been available since the early 1990s, yet there are few programs, and none funded as part of a national health care strategy. The aim of this paper is to provide a description of carrier screening for CF and examine the progress that has been made towards the establishment of universal population-based carrier screening programs. This is an evidence based commentary on population-based carrier screening for CF. Peak body recommendations were examined and existing programs for CF carrier screening are reviewed. The attitudes from the non-CF community, CF healthcare professionals and people with CF were studied. Data from health economic assessments is examined. The future of carrier screening for CF in the context of advancing genetic technologies and potentially curative therapies is considered.

Keywords: Carrier screening; Cystic fibrosis.