Criticità e prospettive nella programmazione dei servizi e degli interventi a favore delle persone con malattia rara

Rare disorders are a numerous group of pathologies, characterized by extreme heterogeneity and at the same time sharing some common characteristics, involving nearly all the ages and all the etiologies. Furthermore, rare disorders often represent chronic conditions; as regards natural history, they are characterized by adverse outcomes, in terms of disability and quality of life and in many cases lead to a long terminal illness phase. Rare disorders don't represent a defined nosological group; an exact list of these disorders shared by the majority doesn't exist, as it strictly depends on the context we refer to (geographical, legislative, epidemiological, etc.). Many countries have adopted definitions based on prevalence criteria, but the cut-off limits used to define as rare a disorder affecting the population are different. For all these reasons rare disorders represent a very complex topic from the health planning point of view of. Three main priority areas can be identified: - the planning of services/interventions and the related process of resources' allocation; - the creation of monitoring systems, allowing the collection of useful information; - the relationship existing between the clinical activities and research activities. As an example of planning strategies implemented in the first area, the process of selection of Reference Centers for rare disorders in the Veneto Region and in a Wide-Area context is presented. For what concerns the second area, due to rare disorders' extreme variability and cross-sectional age distribution, it is extremely difficult to calculate or just estimate their whole impact on the population's health. Therefore, very little can be said about the effects that new knowledge advances and research progress in this field can have at a wide population level. To tackle these questions, it is necessary to have an area wide enough to be completely monitored for all rare disorders, which is very difficult to be pursued. The Registries focused on a specific disease, or on a group of diseases, despite their importance in improving the knowledge on specific disorders, are of limited usefulness from a health care planning point of view. To properly determine the impact of the complex phenomenon "rare disorders" at a population level, area-based surveillance systems are needed, monitoring not the single conditions but the whole group of rare disorders. In enforcing the rare disorders' national law, issued in 2001, specific health policies and integrated planning strategies were developed by the Veneto Region. Since 2002 a unique computerized monitoring system allowing diagnosis recording, exemption leading to benefits - entitlement and cases - enrollment in the Register was implemented. This system connects all the identified centers of excellence, all the health districts and the local pharmaceutical services. The patient enters the surveillance system after a specific diagnosis of rare disease has been made, which is followed by the exemption issued by the local health districts. More than 12,000 patients are now enrolled in the Register. The information collected by the Register is useful for epidemiological studies, but can be also the starting point for the implementation of services for the patients. The example of the supply of diet products free of charge for metabolic patients is presented. Patients with rare disorders are burdened by extremely complex health care histories. The lack of case notification systems and the common non univocal correspondence between rare disease entity and disease code reported in the International Classification of Diseases (ICD), commonly used in current data flows, allow only estimate of affected patients. At the same time the patient's clinical history collected by the Register can be enriched with the information coming from other current data flows. Another part of the thesis focuses on the identification of rare disorders' patients and their history of hospitalisations using Hospital Discharge Records. From a health planning point of view the interactions between the three areas of interventions above mentioned need to be further studied in order to identify which tools can be used to achieve a better integration. These tools essentially belong to two dimensions: culture, which results from the combination of knowledge and attitudes, and information. For the first topic, the experience of the definition of therapeutic protocols for patients affected by neurological rare diseases is described. This agreement process implies the shift from the activity of collecting information to the elaboration of consensus guidelines, improving clinical practice standardization and progressively increasing the quality of the interventions. As regards information, this represents a very crucial issue speaking of rare disorders, since they are characterized by paucity of available sources. The patients seek information both on topics related to the disease itself as well as information on which are the laboratories performing diagnoses or the centres with the best clinical expertise. Furthermore, lack of information characterizes also the knowledge of legislative aspects, especially the ones potentially leading to benefits entitlement. Two concrete applications, aiming at improving the spreading of information, reducing the existing gap in this field are presented: the web-site and the help-line of the Veneto Region Register for Rare Disorders. Finally, the application of translational research in the field of rare disorders is discussed. Translational research refers to translating research into practice. It aims at ensuring that new treatments, devices, and research knowledge reach the patients for whom they are developed. In the context of health planning, a translational approach can be applied when population-based interventions and practice-based research bring the results of the first kind of research to the public. In the field of rare disorders both the translational approaches have to be implemented. Rare disorders' patients could benefit not only from translation of biotechnological and novel therapies, but also from interventions aimed at improving access, reorganizing and properly coordinating systems of care.