A global perspective on newborn screening for cystic fibrosis

Purpose of review: Cystic fibrosis screening in newborns is occurring in an increasing number of countries, but protocols vary across regions, borders and continents. This review describes recent advances in the rationale for newborn screening and then suggests solutions to the hurdles that need to be overcome by clinicians to ensure long-term clinical outcomes can be measured robustly whilst retaining the confidence of the funding authorities who have many calls on limited budgets. The review is written to address the concerns of the sceptics.

Recent findings: Beneficial evidence for screening for cystic fibrosis in newborns is accumulating and will be highlighted to aid those about to introduce screening for cystic fibrosis in competition with other diseases. Future approaches are described to minimize the amount of DNA-based information held but without compromising screening efficacy. Finally, guidelines for a pilot dataset of information that must be collected on each screened infant will be proposed.

Summary: Standardization of international programs for newborns has not yet been achieved. Progress towards this goal is being made but many differences remain. Solutions to the practical difficulties of implementation of screening for newborns are described to help cystic fibrosis clinicians convince their colleagues of the merits of this practice.