“We want to make rare disease data usable for research and healthcare purposes across hospitals. Creating such a data network is particularly important for so-called orphan diseases,” says CORD-MI project leader Dr. Josef Schepers, Deputy Director of the BIH Core Unit eHealth and Interoperability, on the occasion of Rare Disease Day 2021, which this year falls on Sunday, February 28.
People with rare diseases are often invisible in the healthcare system, because the diagnoses and symptoms of their conditions have yet to be clearly documented. In addition, their health data are not accessible across institutions. Visibility and data exchange are, however, especially important for these patients, because for many rare diseases there is still no reliable diagnosis, let alone an effective treatment. Some of the diseases are also so rare that it is difficult to even find appropriate patient cohort studies at a university medical center. Digitalization therefore represents a great opportunity for research into rare diseases.
Clear documentation of rare diseases
Twenty university hospitals and other partner institutions are participating in the CORD-MI project. They are primarily working to implement the key goals of the National Action League for People with Rare Diseases (NAMSE). In the fall of 2020, NAMSE formulated requirements for digitalization in rare disease care. Central to this is the creation of precise coding for rare diseases in compliance with international standards. CORD-MI is striving to ensure that all university hospitals will be able to identify and document rare diseases consistently and unambiguously using so-called Orpha codes. To achieve this, the project is working with industrial partners who are making coding tools available to university hospitals. In the so-called data integration centers, which have been set up at university hospital sites throughout Germany as part of the Medical Informatics Initiative, patient data will be uniformly processed, linked with data from other university hospitals and analyzed in compliance with data protection regulations. CORD-MI will initially focus on two rare diseases – cystic fibrosis and phenylketonuria – to show how the data of the participating university hospitals can be evaluated across institutions.
Patient organization ACHSE e.V. is supporting the project
When it comes to analyzing data on rare diseases, research is faced with special challenges that involve not only legal and technical issues, but also ethical and social questions. In September 2020, CORD-MI therefore sought dialogue with the Alliance for Chronic Rare Diseases (Allianz Chronisch Seltener Erkrankungen, ACHSE e.V.) and affected individuals at a workshop to jointly discuss ideas on how health data can be analyzed. Dr. Christine Mundlos, Deputy Managing Director of ACHSE e.V., says: “Those afflicted and their families not only want to benefit from digitalization, but also want to play an active role in shaping it. The workshop once again showed that many researchers are not yet sufficiently aware of the potential that exists for them in working with patients with rare diseases. For example, patients are even uploading their data to international servers themselves or setting up their own patient registries. They associate great hopes and extensive knowledge gains with digitalization, and are happy to do their part.”
CORD-MI is a cross-consortia use case within the Medical Informatics Initiative (MII). Its aim is to improve research and care in the field of rare diseases. The MII strives to enable data from healthcare contexts and from clinical and biomedical research to be used and exchanged across multiple entities and sites – transcending the boundaries of individual institutions and geographical locations – in order to improve research opportunities and patient care. The Federal Ministry of Education and Research (BMBF) is providing a total of around €160 million for this initiative through 2021. All of Germany’s university hospitals have joined forces with research institutions, businesses, health insurers, and patient advocacy groups in four consortia – DIFUTURE, HiGHmed, MIRACUM, and SMITH – to create a framework across more than 30 sites that harnesses research findings to the direct benefit of patients.Data protection and data security are given the highest priority.