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It is estimated that they are approx two million Italians who suffer from a rare disease, so defined by the European Union because it affects less than 5 people out of 10,000; each with its own storyall with the same needs for timely access to diagnosis, treatment, care, wherever there are. But how can patient care be improved? They are working European Reference Networks (ERN) that connect the centers of excellence for rare diseases, also thanks to the use of technological tools and telemedicine? What prospects does the EU4Health Action Programmeone of the main tools for giving life to theEuropean Health Union? These and other topics will be discussed General status of rare diseases in program in Padua on 23 and 24 Februaryon the occasion of the World Day which occurs on February 28.

Diagnostic odyssey and the role of clinical genomics

During first day experts will discuss, among other things, on how to lead the clinical genomics revolution. One of the problems shared by patients affected by rare diseases (of genetic origin in 70-80 percent of cases, ndr) l’diagnostic odysseythat is, they migrate from one hospital center to another because they are unable to get a precise diagnosis, and the time lost also has consequences on the probability of finding a cure – he explains George Perilongo, full professor of pediatrics at the Department of Women’s and Children’s Health and coordinator of the Functional Department of Rare Diseases of the University Hospital of Padua, promoter of the initiative –. The new DNA sequencing techniques they’re opening new horizons with respect to the ability to make precision and personalized diagnoses, thus reducing the diagnostic odyssey of patients. However, it is necessary to know how to interpret the many data that is obtained, for which there is a need for expensive machinery, bio-informatics, artificial intelligence algorithms, collaboration with clinicians to formulate a precise diagnosis – Professor Perilongo points out -. And it is necessary that the revolution of clinical genomics be given a sort of regulation also at the political level.

Transition from childhood to adulthood

During the first workshop, the February 23rdwe will also talk about cHow to facilitate the patient’s transition from childhood to adulthoodProfessor Perilongo anticipates: 70 percent of rare diseases begin in childhood; today, thanks to scientific advances, these children live and become adults, so we need to make sure that guarantee them the continuity of assistance. The stage of transition it cannot be entrusted to the good will of the individual doctor but must be addressed at the level of health organization and also of political directives. We will also discuss this to identify possible solutions.

Information “travels”, not patients

To make the fight more effective rare diseases, characterized by scarcity of both patients and dedicated resources and by the fragmentation of skills, in 2017 were initiated by the EU European Reference Networks (ERN).), already provided for by the Community Directive on the rights of patients to cross-border care. Instead of having patients travelso that they have access to quality care – wherever they reside – information is circulatedthey put on hospitals of excellence online for rare diseases, data, experiences, knowledge are shared – clarifies Perilongo -. To make this cooperation possible it’s new communication technologies and data digitization of a health nature, and not only.

Innovative healthcare model: does it work?

Five years after the launch of the ERNsthe European Union is considering whether this works innovative model of health carewhich goes beyond national borders. Certainly, observes Professor Perilongo, Europe continues to believe in their potential having destined substantial resources for the development of the European reference networks, within the framework of the EU4Health action programmelaunched in 2021 in response to the pandemic (the total investment of €5.3 billion in the period 2021-2027, ndr). The European Union, then – continues the specialist – has set up a commission to evaluate whether this model can be applied to other more common diseases. We will also discuss this during the workshop.

Supranational cooperation, because it is important

The second day of the States General, the February 24thwill be dedicated to path to take to reach the European Union of health.
Professor Perilongo explains: One of the reasons why we promoted a workshop on this topic which, as Covid has also demonstrated, there are problems that need to be addressed at the supranational levelfor example, the effects of climate change eh costs of new biological drugs. In fact, they already exist supranational cooperation interventions for rare diseases and tumours, but they have gone a bit under the radar. The process to achieve the European Health Union he must start from the bottom and, by that, we mean raise awareness on the topic doctors, patients, citizens.

What rules?

It is not enough. Adds Perilongo: We understand that working together added value for rare diseasesma collaborating in the field of health requires rules, laws, a European health policy. This is why the first part of the workshop is dedicated to rediscover the roots of the European Union (from there various collaborations were born, also in the field of health, ndr) but also acopen up the political difficulties, for example how to harmonize the laws between the various countries in order to effectively collaborate. They will discuss these issues experts in law, international politics, economics. Our intent understand what actions we can implement, “from below”, to contributeeach with its own competences, a achieve the goal of the European Health Union concludes the specialist.