Genetic advances in cystic fibrosis: to screen, to treat or both?

Abstract

Since the identification of the cystic fibrosis (CF) gene in 1989 there have been considerable advances in treatment and fierce debate concerning CF screening programmes. Cystic fibrosis imposes a burden of suffering, of onerous treatment and of reduced lifespan. New emerging treatments are very expensive but are expected to improve survival and quality of life. Treatments and screening programmes should not be played off against one another in choices for funding. This paper presents an argument for the appropriate use of newer treatments which could be funded from savings arising from the effects of widespread implementation of newborn and active cascade carrier detection programmes. Newborn screening delays the need for expensive treatments reserved for those with advanced disease, by reducing pre-diagnosis tissue damage and the rate of progression of the disease. Carrier screening has the capacity to decrease the numerical burden of affected children born and increases the number of children born free of disease. For the present, carrier screening in the absence of a family history could be funded by the individuals who wish it or by those prepared to buy this service. All types of screening presume quality control, an existing laboratory and counselling infrastructure and an established method of communicating results.