Last 3 July in Rome the Italian Federation of Rare Disease Uniamo Firmr presented the 5th edition of the MonitoRare Report, a detailed overview of the rare disease patients condition in Italy.
The report offers a general framework and data on epidemiology, access to diagnosis, therapies, assistance, as well as on socio-health, legal and economic organization, and it also highlights the strong points and criticalities of the Italian system of rare diseases.
In this edition, many strenghts have been observed in 2018 in Italy. For example, new important progresses have been made in the rare diseases regional registries and regional networks, according to the new list of rare diseases of LEA - Essential levels of assistance. Also, progressive implementation of the regional neonatal screening systems have been extended in the last 3 Regions that had not yet activated it. Positive news on neonatal screening, where the Legge di Bilancio 2019 shows an additional 4 million euros, the extension to neuromuscular diseases of genetic origin, severe congenital immunodeficiencies and lysosomal storage diseases And again, a strong regional commitment to the implementation of the Fund's assistance programs for people with severe disabilities without family support, even if the results are still not sufficiently appreciated.
The other side of the coin is represented by the critical issues that persist, such as inhomogeneities territorial access to health, social-health and social services. For example, the inequalities in the geographical distribution of the Italian hospitals participating in the ERNs; the still partially uneven activation of extended neonatal screening; the different degree of regulation of the administration of drug therapies and not in a school subject to specific discipline in 9 Regions/ Public Administrations; the lack of relief programs at competent inpatient facilities not hospitals for people with rare diseases provided or in progress only in 9 Regions / Public Administrations.
Other criticalities are related to the failure to adopt the necessary administrative tools to recognize and guarantee adequate remuneration of remote consulting services by the principals / centers of competence; the failure to adopt management and administrative solutions aimed at assessing the feasibility of remuneration methods that consider the complexity of management care of the person with rare disease in the hospital and territorial setting.
Furthermore, at political level is a reluctant weakeness the delayed start of the national planning update process, the failure to evaluate the National Rare Diseases Plan 2013-2016 and the failure to set up the National Committee envisaged by the Plan itself.
Read the complete MonitoRare Report [here].