Rare Diseases and the Italian Public Health System

Domenica Taruscio, Moges Seyoum Ido, Paolo Salerno, Elvira Agazio

National Center for Rare Diseases, Istituto Superiore di Sanità, Viale Regina Elena, 299 – Roma; e-mail: taruscio@iss.it

Rare diseases (RD) started to receive the recognition as a major health problem since the United States approved the orphan drug act in 1983. Diseases are labelled rare and grouped together on the basis of their occurrence frequency among the general population. According to the European definition a disease is rare when affects not more than five persons per 10,000 in the EU Community (CE 141/2000). Rare diseases affect different organs and systems and they have different aetiopathogenesis. Nevertheless, most of them are difficult to diagnose and, they have a chronic and debilitating course, and/or are cause early mortality. The main problems that RD present are lack of adequate information, lack of timely and appropriate diagnosis and adequate treatment and, lack of interest in clinical and basic research and, development of new therapy. National health systems of the European Union member states are expected to respond to all these major problems. This has been focused by the European Parliament and Council decision no. 1295/99 (Official Journal L. 155, 22/06/1999 p. 0001) which launched a five year rare diseases Community action programme within the framework of action in the field of public health. Since its reorganisation in 1978, the Italian National Health Service System (Law 23 December 1978), has registered a remarkable achievement in ensuring the well-being of the population. In fact, in a recent evaluation, WHO has put the Italian health system organization among the best in the world. The system is based on the principle that citizens have the right to access to the health services. Recently, a major shift, in terms of responsibility and authority, is made in the social sector with devolution of power from the centre to the periphery. Accordingly, Regions have taken the responsibility and authority to decide on all health issues, while the Ministry take interregional coordinations and major policy decisions. Regarding nation wide rare diseases, the government has taken policy and legislative measures to undertake actions to alleviate the rare diseases problem. The two consecutive three years national health plans, 1998-2001 and 2002-2004, have outlined the importance of supporting research on rare diseases, and the need for timely diagnosis and appropriate treatment and preventive measures promotion. Accordingly, in 2001 the Ministry of Health has established the National Network of Rare Diseases. Centres, with a documented experience and capacity, have to be identified by the Regions to serve as regional referral centres of specific rare diseases. These centres have to be reorganised functionally in a network to provide appropriate health services to patients affected by RD in the territory. The Ministry decree has instituted a National Register of Rare Diseases at the National Health Institute (Istituto Superiore di Sanità), that will co-ordinate the regional registers and the whole epidemiological flow. The decree has also exempted patients affected by rare diseases and their families from health service cost sharing. This is expected to facilitate the activity of disease registration. Obviously, to address the problems related to more than 5000 diseases as a group entails a huge amount of resource and persistent commitment. The struggle has already started, and it is difficult to foresee how long and how much it will take. It needs the active participation of all stakeholders – patients and their families, health professionals and their associations, scientists, public and private health service delivery institutions, research centres, voluntary and no profit organisations, and pharmaceutical industries – that are expected to do their part in a concerted manner.