We are proud to share the results from a crucial survey on diagnostic and monitoring activities for patients with metabolic disorders, a collaborative effort between Società Italiana per lo Studio delle Malattie Metaboliche Ereditarie e lo Screening Neonatale (SIMMESN) and MetabERN Italy, led by Prof Carlo Dionisi Vici (Bambino Gesù Children Hospital, Rome, Italy). This initiative aims to gather essential data on the activities of metabolic diagnostic laboratories operating in Italy, with the objective of mapping the biochemical tests available for diagnosing and monitoring patients affected by metabolic diseases.
The survey specifically focused on tests conducted for patient diagnosis and follow-up, excluding neonatal screening and limiting the scope to analyses performed within the participating laboratories. The involvement of these laboratories was vital for the success of this initiative, allowing for a clearer understanding of the diagnostic services available in the country.
Thanks to these findings, patients will now be able to identify active laboratories and the services they offer, enabling those in need to access the relevant national network centres. This represents a significant step towards ensuring continuous and quality care for patients with metabolic disorders.
This survey signifies a major achievement for MetabERN Italy, launched in 2022, which serves as a model for implementing the objectives of the European Reference Networks (ERNs). Its goals include providing consistent care, improving regional equity, and strengthening ties between European projects and national policy frameworks. Supported by the European Commission, MetabERN Italia aims to centralise national initiatives, facilitate patient access, and promote the integration of ERNs within national healthcare systems.
