Background/Objectives: Next-generation sequencing (NGS) can explain how genetics influence morbidity and mortality in children. However, it is unclear whether health providers will perceive and use such treatments. We conducted a discrete choice experiment (DCE) to understand Italian health professionals’ preferences for NGS to improve the diagnosis of paediatric genetic diseases. Methods: The DCE was administered online to 125 health professionals in Italy. We documented attributes influencing professionals’ decisions of NGS, including higher diagnostic yield, shorter counselling periods, cost, turnaround time, and the identification of fewer variants of unknown significance. Results: Results show that factors such as higher diagnostic yield, shorter counselling periods, lower costs, and faster turnaround times positively influenced the adoption of NGS tests. Willingness to pay (WTP) estimates varied from EUR 387 (95% CI, 271.8–502.9) for 7% increase in the diagnostic yield to EUR 469 (95% CI, 287.2–744.9) for a decrease of one week in the turnaround time. Responders would reduce diagnostic yield by 7% to decrease the turnaround time by one week in both the preference and the willingness to trade (WTT) spaces. Respondents prioritised diagnostic yield (RI = 50.36%; 95% CI 40.2–67.2%) compared to other attributes. Conclusions: therefore, health professionals value NGS for allowing earlier, more accurate genetic diagnoses.

Objectives: Health technology assessment of medical devices (HTA-MDs) presents unique challenges compared to pharmaceuticals. Total MD expenditure continues to grow in Europe, and countries typically conduct their own HTA-MDs evaluations, with varying institutionalization arrangements. European Union’s (EU’s) HTA Regulation aims to establish collaborative clinical assessments across Member States, potentially expediting the path from EU safety certification of MDs to pricing and reimbursement decisions. This study aims to identify emergent configurations among institutionalizations of HTA-MDs in the EU, European Economic Area (EEA), and European Free Trade Association (EFTA) countries. Methods: Publicly available data were cross-sectionally collected for EU, EEA, and EFTA countries until August 2024 to allow a cross-country analysis of HTA-MDs institutionalizations. Countries were included if they had at least one publicly mandated body for HTA-MDs. Data sources were scientific databases, institutional websites, and HTA bodies’ documentation. A framework of 16 elements, qualitatively describing the institutionalization of HTA-MDs, was developed based on a document review and used as a dataset for agglomerative hierarchical cluster analysis to identify patterns of HTA-MDs institutionalization. Results: The 21 included countries formed three clusters: Cluster 1 featured regulatory-focused, legally bound HTA-MDs systems with mandatory assessments determining reimbursement decisions; Cluster 2 was characterized by regulatory functions, external expert collaboration, formal prioritization processes, and organized Horizon Scanning; Cluster 3 showed recommendatory functions, nonmandatory assessments, and limited impact on reimbursement decisions. Conclusions: HTA-MDs institutionalizations could benefit from implementing prioritization processes of evaluations, establishing networks of collaborative assessment centers, and ensuring links between evaluations and reimbursement decisions.

Introduction: The duration of pricing and reimbursement (P&R) negotiations is a key performance indicator formedicines agencies in universal health coverage systems. In early 2024, the Italian Medicines Agency (AIFA) underwent a major reform, including the merging of the previous Scientific-Technical Committee and Price andReimbursement Committee into a single Scientific and Economic Committee. This study evaluates the reform’simpact on time to P&R determinations for new medicines in Italy.Methods: A time-to-event analysis was conducted on 139 new chemical entities authorized by the EuropeanCommission (EC) between February 2021 and December 2023. The primary outcome was the time from marketingauthorization (MA) to publication of AIFA’s P&R determination. Kaplan-Meier curves and Cox proportionalhazards models were used to compare reclassification hazards between pre- (before March 2024) and postreformgroups of medicinal products, based on a fixed separation date, adjusting for antineoplastic therapeuticarea and pharmaceutical company size. Four sensitivity analyses tested the robustness of the results.Results: The multivariate Cox model, adjusting for antineoplastics, products from major corporations, and orphanmedicines, showed that the reform was associated with an 84% increase in reclassification hazards (HR = 1.84,95% CI 1.20-2.82, p = 0.005). Sensitivity analyses corroborated these findings, showing even greater improvementswhen focusing on national evaluation timeframes (HR = 11.57 and HR = 3.91).Conclusion: The consolidation of separate committees into a unified structure, as a part of the 2024 AIFA reform,was accompanied by accelerated P&R negotiations for new medicines in Italy, demonstrating that structural optimization of health technology assessment processes may enhance system efficiency.

This study explores the organizational aspects of whole genome sequencing (WGS) implementation for pediatric patients with suspected genetic disorders in Italy, comparing it with whole exome sequencing (WES). Health professionals’ opinions were collected through an internet-based survey and analyzed using a qualitative summative content analysis methodology. Among the 16 respondents, most were clinical geneticists performing only WES, while 5 also used WGS. The key differences identified include higher needs for analyzing genome rearrangements following WES, greater data storage and security requirements for WGS, and WGS only being performed in specific research studies. No difference was detected in centralization and decentralization issues. The main cost factors included genetic consultations, library preparation and sequencing, bioinformatic analysis, interpretation and confirmation, data storage, and complementary diagnostic investigations. Both WES and WGS decreased the need for additional diagnostic analyses when not used as last-resort tests. Organizational aspects were similar for WGS and WES, but economic evidence gaps may exist for WGS in clinical settings. As sequencing costs decline, WGS will likely replace WES and traditional genetic testing. Tailored genomic policies and cost-effectiveness analyses are needed for WGS implementation in health systems. WGS shows promise for enhancing genetics knowledge and expediting diagnoses for pediatric patients with genetic disorders.

A large body of literature showed the importance of dietary patterns (DPs) analysis in nutritional epidemiology. The objective of this research was to derive and characterize adults dietary patterns in a large Italian population-based cohort and to assess individuals’ diet adherence with...

Background & objective.: Diet is among the most significant modifiable risk factors for reducing the global burden of chronic diseases. This study aims to investigate the dietary patterns of adults in a large representative sample of the Italian population and to analyze these patterns according to sociodemographic characteristics. Methods: Adult participants of the third Italian National Food Consumption Survey (INRAN- SCAI 2005-06) were included. A total of 878 food items were classified into 24 pre-defined food groups using the FoodEx2 classification system. Dietary patterns were identified through principal component analysis, and Z-scores were calculated to assess adherence to these patterns. Associations between sociodemographic characteristics, energy intake, and dietary adherence scores were investigated using linear regression models. Results: Based on data from 2,831 subjects (median age 47, IQR 35-60), five principal components (PCs) were retained, explaining 35.6% of the overall variance. PC1 was indicative of a high-fat diet, PC2 suggested a western eating behavior, PC3 represented a health-conscious lifestyle, PC4 can be characterized as an Italian traditional diet, and PC5 represented an unhealthy dietary pattern. According to Z-scores, 42.4% of our study cohort showed high adherence to at least one of the dietary patterns. Less healthy dietary patterns were more prevalent among males and individuals from northern Italian regions. Conclusions: Our results indicate a significant regional variation in terms of dietary pattern, mirroring the general trends of Italian eating habits of the last decades, characterized by a higher tendency towards a more westernized lifestyle. These findings underscore the importance of considering region-specific characteristics when designing future public health interventions and establishing national dietary guidelines.