Early evaluation of the clinical and economic effects of the Cystic Fibrosis Newborn Screening Programme

Lead Researcher:

Dr Patricia Fitzpatrick

Award Date:

1 January 2013

Host Institution:

University College Dublin

Scheme:

Health Research Award

Summary:

This is a programme of research which addresses key outcomes in the newly established Cystic Fibrosis (CF) Newborn Screening programme. Ireland has the highest prevalence of CF in the world, with almost 3 cases per 10,000 of the population. Newborn screening for CF was introduced in 2011. The study aims to evaluate important clinical and economic early parameters of the screening programme by comparing those children detected by the screening programme with children diagnosed after they present with symptoms in terms of the following: (i) health outcomes, including growth, weight and height, lung function, infection rates, number of admissions to hospital in the early years of life; (ii) timing of onset of early respiratory complications in children diagnosed through Newborn Screening; (iii) the effect of gender and presence of specific genes on early development of the disease; (iv) comparisons of screen-detected children’s early health with results from European and Australian CF registries; (v) health costs incurred by parents and by the health services, both prior to diagnosis and following diagnosis, including travel, time off work, GP and hospital visits, tests, hospital admissions and medications. The proposed research on the CF Newborn Screening Programme will utilise both data collected by the National Cystic Fibrosis Registry and complementary additional data required for this very early evaluation. An early follow-up evaluation of the Cystic Fibrosis Newborn Screening programme is both timely and necessary and will provide important information across clinical and economic parameters for this significant disease.