NGS fund blocked: rare disease diagnosis at risk of stalling
Rome, December 17, 2024 – The Constitutional Court has declared unconstitutional Article 1, Paragraph 557 of the 2024 Budget Law, effectively halting the NGS fund of €1 million. This fund was designed to support the diagnosis of rare diseases through Next Generation Sequencing (NGS) technology. The decision stems from a legal challenge by the Campania Region, leaving patients and families waiting for a diagnosis in uncertainty.
The Court’s ruling argues that the fund’s decree, signed by the Ministers of Health and Economy, was illegitimate due to the absence of consultation with the State-Regions Conference. This advanced technology would have offered definitive answers to complex cases, closing years-long diagnostic odysseys while opening doors to genetic counseling and potential therapeutic solutions.
“With deep regret, we have learned of this decision,” says Prof. Paolo Gasparini, President of SIGU. “The lack of funding will impact families searching for a diagnosis, denying them a critical step that not only identifies their condition but also enables appropriate care pathways and access to innovative treatments.”
Gasparini highlights the irony that Campania’s patients would have received €96,840, a significant portion of the total, based on the population size. Now, patients across all regions are left without this vital resource.
Ilaria Ciancaleoni Bartoli, Director of OMaR, adds: “One of Italy’s chronic issues is passing laws without ensuring the implementation of decrees. In this case, the decree was issued promptly, yet the process was blocked by a Region. It’s essential to find a solution quickly, perhaps leveraging the ongoing discussions on the 2025 Budget Law.”
Gasparini urges the Government and Parliament, which had previously supported the fund through an amendment introduced by Hon. Raffaella Paita, to resolve the impasse.
“We thank those who advocated for this law,” concludes Gasparini, “and we hope they will stand by patients again to overcome this stalemate that threatens rare disease support and research.”
