by Chiara Daina
Funded with 50 million euros for the next two years, the new Plan has among the objectives to reduce the average time to diagnosis and facilitate access to therapies
The new Plan on rare diseases for 2023-2026 aims to give more concrete answers to the over 2 million rare disease patients living in Italy. The challenges it poses are: increasing access to genetic counseling, genetic tests and pre-conception pathways, decreasing average diagnosis times, facilitating the timely and equitable provision in the regions of drugs and all other therapeutic options (such as rehabilitation, foods for special medical purposes and devices), ensure continuity of care between the hospital, territory and home and, at the same time, encourage the training of healthcare personnel and reorganize the national network of reference centres.
Allocated 50 million in two years
The new Plan was approved on 24 May by the State-Regions Conference, filling a gap of seven years (the last one expired in 2016), and was financed with 50 million euros for the next two years. By October we expect to define the decree for the distribution of resources among the Regions, which will be necessary to implement the objectives, declares Stefano Lorusso, director general of Programming of the Ministry of Health. The Plan is the result of a journey that starts from afar and of a common political will. Not the battle of a party but of the whole community – underlines Marcello Gemmato, undersecretary of the Ministry of Health with responsibility for rare diseases -. With this programme, we provide people with rare diseases with a tool for a therapeutic approach, taking charge and a homogeneous care pathway throughout the country.
Prevention
The first chapter of the Plan concerns access to tools for the prevention of rare diseases (it is defined as rare when it affects no more than 5 people out of 10,000), still judged to be deficient. Given that 80% of these pathologies have a genetic origin, the Regions are called to make the offer of genetic counseling and genetic testing services homogeneous (already envisaged by the new essential levels of assistance of 2017), increasing the staff dedicated, to reduce waiting times, and making them known to citizens through information campaigns. Another equally fundamental objective is to reduce the potential risk factors of rare diseases (increase in maternal and paternal age, infectious agents, obesity and anorexia, vitamin imbalances, smoking, alcohol and drugs during pregnancy, exposure to heavy metals) by promoting correct lifestyles and preconception care (for women with diabetes, epilepsy and other chronic diseases).
Diagnosis
Today, rare patients experience an average diagnostic delay of at least four years, Annalisa Scopinaro, president of Let’s unite
, the Italian Federation of Rare Diseases. The second chapter defines the objective of achieving shorter times for the formulation of the diagnostic suspicion through greater awareness and training of general practitioners, paediatricians of free choice, specialists of each branch and of all other health and social health figures, so that the patient’s referral to the referral center is more timely. The new Plan also calls for the inclusion in the Lea (the essential levels of assistance guaranteed by the National Health Service) of the services for the new generation DNA sequencing analysis (NGS test), a technique that allows more precise diagnoses, in faster times and at lower costs.
Today the criticality linked to the use of Ngs tests lies in the bioinformatics analysis of the results and their clinical interpretation. therefore it is necessary to adequately train the personnel and to structure a strong collaboration between the clinician responsible for the pathology, the geneticist, the genetics laboratory and the bioinformatics expert. The Plan also provides for free and uniform access on the national territory to prenatal diagnoses through genetic tests (including pre-implantation tests for all couples with a personal or family genetic risk who resort to medically assisted procreation techniques), with analysis of the damage present and evolutionary of the person.
Medicines
Our country has 122 so-called orphan drugs (that is, indicated for rare pathologies) already available out of the 130 authorized by the European Medicines Agency, second only to Germany. 80% of these are reimbursed by the State Currently only category A and H drugs are included. The new National Plan for Diseases provides that even those in category C (normally paid for by the citizen), off-label (i.e. used outside the indications for which they were authorized) or not on the market in Italy, if prescribed by the specialist of the reference center through the individual therapeutic plan, are paid by the State. Other objectives are to facilitate and simplify access to all the therapeutic options indicated in the therapeutic plans and to start real-world monitoring projects of the efficacy of off-label drugs, ie through the data collected during normal clinical practice for a more appropriate use.
Non-pharmacological treatments
According to the new national programme, the Regions will have to provide free of charge all the other essential tools for taking care of the rare patient: foods for special medical purposes, supplements, parapharmaceuticals and cosmetics, principals, medical devices, prostheses, aids, rehabilitation. In many cases these non-pharmacological treatments are the only possible intervention options.
National network of centers for rare diseases
The reorganization of the network of diagnosis and treatment centers is essential. The Plan establishes the functions that the regional (or interregional) coordination centres, the reference centers and those of excellence which participate in the network of European centers must have. The Regions will have to evaluate whether the centers they have already identified on their territory comply with the tasks set out in the document – clarifies Lorusso -. The plan also contains indicators to measure the level of implementation of all the actions envisaged by the Plan. To ensure continuity of care between the various care contexts, it is necessary to strengthen the connection between reference centers and local health services (including community homes and community hospitals) and for remote care it will be necessary to activate telemonitoring services.
A criticality to be overcome linked to the epidemiological detection of rare diseases. The IT systems of some regional registers are incompatible with that of the national register, with the consequence that the data sent centrally cannot be read explains Marco Silano, acting director of the National Center for Rare Diseases of the Higher Institute of Health ( Iss).
Information
There are several information and guidance services on rare diseases: the institutional portal malattierare.gov.it, launched in 2020, which generates a fortnightly newsletter (Rarely); the website of the ISS rare disease center, where the toll-free number 800896949 is available to patients, family members and doctors; the helplines of the associations; sites and regional information points (16 Regions have developed an information center with telephone and email contacts); the international Orphanet database; the Farmaciline service of the Italian Medicines Agency, which offers independent information on authorized medicines; the Uniamo listening and information service (which can be used by sending an email to [email protected]) and the website malatirari.it.
July 11, 2023 (change July 11, 2023 | 11:06)
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