Health Technology Assessment Of The Genetic Tests For Cystic Fibrosis Carrier Screening in Italy

Introduction: Cystic fibrosis (CF) is a genetic disorder caused by mutations in the CFTR gene. In Italy, the reported prevalence is approximately 0.70 per 10,000 inhabitants. Our aim was to summarize the available evidence, using the HTA approach, on the genetic tests for cystic fibrosis carrier screening. Methods: systematic literature search was used to find the best available international and national evidence on genetic tests for CF carrier screening. We addressed health problem of disease, description and technical characteristics of tests – its analytic and clinical validity, and clinical utility. Economic evaluation of different scenarios was synthesized from literature. Ethical, organizational, and social aspects of CF and genetic screening were also considered. Results: Several screening strategies have been evaluated in the literature and screening options can be characterized by different timing, model and place of screening. The reported cost of a screening test ranged from €25 to €212. Ethical analysis emphasized that the use of these tests is an advantage in terms of the acquisition of knowledge and of responsible management of choices, but at the same time raises many ethical questions. Social considerations reported an overall positive attitude among patients and their families towards CF carrier screening. Conclusions: Advances in the molecular genetics technology have made CF carrier testing reliable and affordable. The multidisciplinary approach of this HTA provided an evidence-based evaluation of the genetic tests and offers a firm scientific background for the decision-makers to consider the implementation of a screening for cystic fibrosis carriers into the Italian health care system.