Nowadays, existing epidemiological data are inadequate because rare disease patients are generally not registered in databases or because registration is not done in a reliable, harmonised or reusable way. Hence, the burden of rare diseases remains invisible making optimal healthcare and social care planning difficult. A key problem in this area is the underuse of appropriate rare disease coding such as ORPHA-codes. The Central Registry of Rare Diseases aims to tackle these problems, to stimulate clinical research through the recruitment of patients for clinical trials and to allow research in a larger geographical area (European/international).
Sciensano is financed by the Belgian health authorities to implement and manage a Central Registry of Rare Diseases (CRRD) as recommended by the European Commission (2009/C 151/02). The CRRD is a population-based registry collecting a limited data set in a standardised way.
A step-by-step development of the CRRD is planned. At the moment, we are optimising the data-collection in genetic centres. The target population is the group of symptomatic rare disease patients consulting the genetic centres, receiving a rare disease diagnosis or having received such a diagnosis in the past. The registry takes into account European recommendations for rare disease registries, as well as some important national evolutions such as the objectives of the e-Health Action plan for healthcare informatisation 2013-2018.
The dataset was elaborated by a multi-stakeholder committee in order to meet their needs. The selected variables enable descriptive epidemiological studies and support studies on the demand and offer of care. This data-collection constitutes the base for more specific research in the future (for example phenotype-genotype correlation studies) and is suited for collecting data also at the European level.
A major hurdle for identification of rare disease patients in health information management systems is the underuse of an appropriate codification system. Nowadays, the Orphanet classification (ORPHA codes) is widely accepted to be the best classification system for rare diseases. It is cross-referenced to other classifications and nomenclatures, such as the ICD and OMIM, and continuously updated.
As a result, mapping from and to other systems will be possible. In a next step, new data providers should be invited to provide data to the CRRD. In accordance with this, collaboration with the haemophilia centres was initiated. The CRRD should also collect the genetic diagnoses for the registered patients, for example by linking genetic test results and/or e.g. NGS-data that are collected in separate registries. Other challenges encompass the revision of the “informed consent” procedure and the alignment with the GDPR, as well as the conditions and requirements on who can access the data under which conditions.