Early Assessment of expansion of New Born Screening panel in the Italian context
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Agenzia Nazionale per i Servizi Sanitari Regionali, Italy
Istituto Superiore di Sanità, Italy
Publication date: 2023-04-26
Popul. Med. 2023;5(Supplement):A1865
Background and Objective:
Newborn screening (NBS) is the test that detects potential fatal or disabling conditions during the first days of neonatal life. As the number of conditions assessable by NBS is increasing it is necessary to identify criteria which can inform health decision-maker. Under the Italian legislation, which in 2016 established the extended NBS as an Essential Level of Care and a periodic update of screened diseases, we piloted an early assessment model on which conditions to add to screening panels for decision making process.

Eight diseases were included in the early assessment model according to the MoH request. A Strengths/Weaknesses, Opportunities/Threats (SWOT) and a Multicriteria Decision (MCDA) analysis were performed. Two expert panel groups were established. The former identified the issues from a predefined list that were relevant to the four categories according to the SWOT, the latter assigned the score according to SWOT results. Scores were weighted according to different perspectives (health professionals, decision-makers, and citizens/patients) represented in the second panel and presented in a scatter plot-type graph showing the positioning of technology according to the potential value and the perceived risk associated with the screening of the single proposed disease.

All the eight diseases resulted in the area associated with a low risk and a high value (defined as a Comfort Zone). Two out of the eight had all the SWOT issues marked as strengths and opportunities. Over the remain six diseases, some weakness and threats issues were associated to effectiveness and costs domain due to the specific disease characteristics.

The proposed model is a useful tool to support the Italian MoH in decision making process on the early assessment of introduction of proposed diseases in the NBS panel and related coverage.