In Italy, 1 in every 30 people is 1 healthy carrier of cystic fibrosis (CF), amounting to nearly 2 million individuals. When both partners in a couple are healthy carriers (a probability of 1 in 900) each pregnancy carries a 1 in 4 chance (25%) of resulting in a child affected by the disease. Carrier status can be determined through a test that analyses DNA from a simple blood sample, conducted in specialized laboratories. The “1 in 30 and you don’t know it” project was launched in 2021 in response to a request of the CF community to raise awareness and provide future parents with information they need to make informed and conscious choices.

To date, Italy has lacked a comprehensive screening policy for cystic fibrosis carriers that includes genetic testing, public education, training for healthcare professionals, easy access to testing and post-result genetic counseling. Findings from the Health Technology Assessment (HTA) – commissioned during phase 1 of the project by FFC Ricerca to the Mario Negri Institute for Pharmacological Research (IRFMN) IRCCS and LIUC|Cattaneo University – indicate a generally positive attitude towards the introduction of widespread screening. Although the programme would require an initial investment, extending carrier testing could become economically sustainable by the sixth year of implementation.

As concerns the information dissemination, phase 4 of the project will continue with awareness raising activities on cystic fibrosis and carrier testing involving the general population (bottom-up activities). The contents of the www.testfibrosicistica.it site will be implemented, new social networks campaigns will be launched, featuring personal testimonials and informative materials aimed at highlighting the importance of carrier testing. Healthcare and institutional stakeholders will be engaged through webinars, conferences and corporate events, accompanied by the distribution of targeted informational materials.
To ensure widespread knowledge of Cystic fibrosis and carrier testing among healthcare professionals, a free Distance Training (FAD) programme will be offered to gynaecologists, general practitioners (GPs) and midwives. The aim is to provide up-to-date information on cystic fibrosis and healthy carrier testing to improve communication and counselling for young couples.
At the institutional level (top-down activities), phase 4 will also focus on further promoting the importance of carrier testing by organizing closed-door regional meetings to foster dialogue with institutional and healthcare stakeholders, thus encouraging the adoption of effective strategies and launching of a pilot project in various regions, as recommended by the Health technology Assessment (HTA).

The project builds on the work carried out in phases 1, 2 and 3.

The adoption of phase 4 of the FFC Ricerca 2024 strategic project. “1 in 30 and you don’t know it. An information and awareness campaign on cystic fibrosis carrier testing” is primarily intended for companies, banks and foundations.

The project is a continuation of Phase 1, Phase 2 and Phase 3.