Genetic diseases as rare diseases: A European policy view

Abstract

All genetic diseases are individually rare but collectively are frequent, so justifying a Public Health approach • Research on genetic diseases requires collaboration between teams from different disciplines and access to data and biological material gathered at International level to ensure adequate sample size • Research and development was unattractive for Industry, as the rarity of the diseases implies a restricted potential market, until a specific regulation in the USA (1983) and in the EU (1999) provided a set of incentives to convince Industry to invest. Orphan drugs for rare diseases now represent 20% of all innovative products. • The development of European collaboration for the delivery of health care and medical services in the field of rare diseases has major potential for bringing benefits to European citizens as no single country can provide the full range of expertise to its citizens • Easily accessible and validated information is a key element to improve quality of health care delivery. Orphanet, the European portal of rare diseases and orphan drugs, has been set up to provide information on each rare disease and on the relevant health care services in Europe and surrounding countries, based on the assumption that, not only are these diseases rare, but the experts are rare as well. All this information is freely accessible on the website http://www.orpha.net