While progress has indeed been made in the area of patient registries and data – notably through the adoption of the basic principles delineated in the EUCERD Recommendations on Rare Disease Patient Registration and Data Collection and the upcoming establishment of the European Platform of Rare Diseases Registration, which will also subscribe to these principles, there is still a need for cultural change. As Hanns Lochmüller, coordinator for the RD-Connect project (an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research, of which EURORDIS is a partner), pointed out, "While competition between different research groups and drug development companies is a driving force to advance science and innovation, harmonisation and sharing of data is ultimately required to compare, combine and make best use of the results. This is especially true in rare diseases, where individuals with the conditions may be scattered across the world".
Other outstanding issues also remain: Technically, the collection and sharing of patient data represents a major challenge: how to create interoperability between geographically and structurally dispersed entities and 'siloed' sources of data? There are also legal challenges, particularly the anticipated impact of the proposed European legislation on data protection. Socially & ethically, it is still not completely understood how to achieve a comfortable balance for patients between sharing data and protecting privacy and confidentiality.
