Rare Diseases

Rare diseases (RDs) are serious, often chronic, progressive, degenerative and associated with comorbidities, substantially affecting quality of life. Integrated care is essential to ensure the transfer of scarce expertise on RDs, the needed coordination between care providers, and to ultimately improve care pathways, guaranteeing the continuous and holistic care delivery that people with RDs need. Studies and pilots conducted so far have shown that integrated and holistic care provision leads to important quality of life improvements for those living with RDs and their families, while being cost-effective and improving the coordination among care providers. Despite this growing evidence, much remains to be done to achieve integrated care for people living with RDs in Europe. In 2016, the Commission Expert Group on Rare Diseases recommended that European Member States should implement measures to facilitate multidisciplinary, holistic, continuous and person-centred care to people living with RDs. In 2019, EURORDIS-Rare Diseases Europe, published an important set of recommendations to support the implementation of integrated care for RDs in Europe. These refer measures to create a supporting environment at national level, specific mechanisms to ensure integrated care and concrete actions to support the dissemination of essential knowledge and good practices. Various methods can and should be used simultaneously to promote integrated care for RDs, including: Centres of Expertise and resource centres for RDs; case managers; care pathways and standards of care; individual care plans; networking and training programmes for service providers; eHealth; European Reference Networks; and the integration of RDs into national functionality/disability assessment systems.