Access to large amounts of diverse data is fostering the development of amazing tools that advance the way we live and work. For example, access to large open data sources has promoted the development of travel applications that allow for daily commutes to be planned by the minute in real-time. In the health sector data is also fundamental in developing services that are more efficient and more accurately target patients needs. An important source of healthcare data, which is especially pertinent to those with rare diseases, comes in the form of patient registries.
The European Union plays a key role in facilitating the development of registries across borders within Europe, through funding, legislative support and through supportive initiatives.
A patient registry is a database of individuals/patients that have a particular condition or disease. The information collected in a registry is normally a combination of administrative, clinical and genetic data (if relevant) provided by the patient and in some instances a healthcare professional. Importantly, patient registries try to increase the uniformity of data collected about patients, which in turn allows for the development of a coherent dataset. Whilst the full data is not available to the public, anonymised data can be accessed by researchers and clinicians, which can be used to help promote research in several different areas.
The data in a patient registry can be used for several general purposes. Firstly, the information can provide estimates for the prevalence in a population (i.e. the absolute number of patients with a condition) and its incidence over a set time period (i.e. the rate at which new cases occur). Similarly the information can be used for other epidemiological research based on the observational data collected.
Another potential use for registry data is for the assessment the effectiveness of medicines in a real world setting, outside of the carefully defined parameters of clinical trials. For example, researchers have performed analysis examining the effectiveness of enzyme replacement therapy in those with Gaucher Disease, using data collected in a patient registry. Furthermore, if patients are utilizing orphan or off-label drugs for their condition, registries can inform researchers of unexpected or harmful side effects.
These databases can also provide an inventory of individuals with a particular condition that can participate in clinical trials. Registries are particularly important for recruiting participants with rare diseases, where prevalence of a condition across a whole country is small, the database allows for many individuals across a region to be contacted.
While patient registries are important for all conditions, they are especially significant for those affected by rare diseases and also rare disease research, for several reasons. As mentioned before, registries can be used to investigate prevalence of a condition and this can help a rare disease to raise awareness and become noticed by a research group or pharmaceutical company, attracting innovation and support where it was absent before.
Patient groups form a vital support network for those with a condition and when those affected by a condition are widely and thinly distributed throughout the world, as is the case for individual rare diseases, registries can provide a platform for individuals to contact one another. From a clinical perspective registries can also help to build a stronger expert network, connecting rare disease researchers, increasing collaboration.
Another important function of patient registries can be to help define the natural history of a disease. Rare diseases, due to their heterogeneity and low prevalence are often poorly understood and consequently badly defined. Additionally, with increasing accuracy and introduction of diagnostic tools, diagnoses are continually being refined and symptoms are becoming better characterised. Patient registries bring all this disparate information together and can be gathered to frame a full description of a condition. Once the natural history of a condition has been established it can provide guidance on standard care practices, highlight potential existing treatments that may help with certain symptoms, and generally increase quality of life. Indeed, the Cystic Fibrosis Foundation Patient Registry has been used to examine differences in patient outcomes of different care centers, allowing for identification of specific aspects of care that make those centres successful.
The Unique registry encompasses 17,000 individuals with rare chromosome disorders, provided by over 14,000 families from around the world, including many EU member states. The database captures the lifetime effects of specific chromosome disorders, pathogenic copy number variants (where sections of DNA are repeated) and single gene disorders. Registry entries are detailed, containing not only genotype coding and phenotypic information but also extensive information on behavioural issues, educational details and also how disorders can impact on the carers of affected individuals. The detailed information held means the registry can support several functions. Firstly, the registry, with Unique as the mediator, can act as a forum where families can gain contact with others with similar genotype of phenotypic features. The depth of information on each disorder featured in the registry, currently over 180, also allows for information to be collated into publicly available guides, drastically increasing the public information available for these rare conditions. Unique can also assist clinicians who have patients with a particular genotype, allowing for the provision of accurate information on the disorder. Thus, the registry provides help for those currently with a diagnosis and also those who are currently in the process of getting one.
Vitally, patient registries have to provide data with an adequate sample size – having enough patients providing data so that significant information can be extracted. For the rare disease population this is difficult, as a specific rare disease may only have a few affected people within a country. Thus, to get the quantity of information needed international collaboration is necessary. The EU is acutely aware of the benefits that patient registries can have for rare disease patients and has established a set of projects and initiatives to establish registries providing guidance on how they can be made most effective.
Of particular interest are the Cross Border Patient Registries Initiative (PARENT) and the RD-CONNECT project. PARENT was established by the EU to support Member States to develop cross-border patient registries, which promotes data-sharing between organisations and countries. Crucially, PARENT is advancing the way that health data can be shared throughout the EU in patient registries and also helping to streamline a Europe-wide ability to collate electronic healthcare records. RD-CONNECT’s work acts to complement PARENT by providing a ‘global platform’ that simplifies data exchange and enables cross-linking of different data types. The project is also developing tools to help establish databases and promote the interoperability of existing databases.
Patient registries are a valuable tool for gathering information, where the data collected can be used for many different research and support functions. For rare disease patients these registries are especially important as they act to connect patients, families and clinicians. The collation of health data from a limited and widely distributed patient pool allows for the construction of an accurate understanding of a condition. The support that the EU provides its member states allows for simple integration of databases promoting extensive cross-border registries allowing for vital research for treatments and medicines to be organized and executed.