Communication challenges in newborn screening: what the public knows (and doesn’t)

Objective: Extended newborn screening (ENBS) is a worthwhile public health program for the early detection of inherited metabolic disorders, facilitating timely diagnosis and treatments that have significantly decreased the morbidity and mortality associated with these conditions. Despite its importance, public awareness of ENBS remains limited. All families deserve access to clear, accurate, and relevant information to help them navigate the newborn screening system. To assess whether the level of knowledge and perceptions of NBS among the general population are appropriate, a public engagement initiative was conducted. Subjects and Methods: A public engagement initiative was realized in the city of Naples (Italy) to involve passers-by in the completion of a survey titled “Extended neonatal screening – how much do you know?”. The questionnaire was distributed as a paper-based or online form, including 15 items focused on demographics and knowledge of ENBS, with the option to share personal experiences and feedback on the dissemination activity. Results: We interacted with approximately 600 people, and half completed the questionnaire. The study population was heterogeneous in terms of sex, age, and educational background, with around half belonging to the biomedical/healthcare field. Globally, only 33% of respondents were aware of ENBS. Despite this, appreciation of the outreach activity and the materials provided was high regardless of the knowledge attained. Conclusions: The data collected in this study reveal a concerning lack of awareness, particularly among those who have already had children. These findings indicate that sporadic recognition or outreach efforts, although beneficial, are insufficient on their own. More sustained and structured schemes are required within clinical settings, where healthcare personnel should be deliberately trained and supported to enhance education and communication with parents.