Health Technology Assessment of the cystic fibrosis carrier screening

This Health Technology Assessment (HTA) project - funded by the Fondazione per la ricerca sulla fibrosi cistica - aims to answer the health policy question: "Is there an advantage in conducting cystic fibrosis carrier screening?".

Cystic fibrosis (CF) is an autosomal recessive genetic disease: people with the disease are born to parents who are both carriers, who have a 25% risk of having a child with CF with each pregnancy. The Italian National Health Service (NHS) currently offers testing for carriers of variants of the CFTR (Cystic Fibrosis Transmembrane Regulator) gene to people considered to be at high risk of giving birth to a child with CF. This offer concerns people with relatives with CF and sometimes couples undertaking medically assisted procreation.

The project takes the NHS perspective and a multidisciplinary and multidimensional view, applying an established European methodology (EUnetHTA model).The following dimensions were assessed: relevance of CF, in terms of incidence and prevalence, and current offer of carrier testing; description of available testing procedures and test characteristics; effectiveness and safety of different screening offers; pathway costs, economic evaluation and budget impact; ethical and social aspects; organisational impact. These aspects were analysed using different approaches: systematic review of the scientific literature; health economics tools for the economic valuation of processes and for budget impact analysis; qualitative evaluation: questionnaires to health professionals (geneticists, gynaecologists...); interviews with people with CF and family members and general population.