Registries and biobanks - what is the appeal?

Resources such as registries and biobanks have become increasingly valuable for the research of rare conditions, by building up a sample size from a wide range of locations, different age groups and so forth. Several charities and academic organisations are directing efforts towards the implementation of such resources.

Within the realm of rare conditions, interest in using resources such as registries and biobanks when conducting research into lesser-understood conditions has been steadily building. Several charities and academic organisations are directing efforts towards the implementation of such resources, chiefly because they facilitate the compilation of data from a wide range of locations, different age groups, varying socio-economic lifestyles, and so forth. Registries and biobanks help to tackle the challenges associated with researchers having access to enough data on patients living with rare conditions so that the results can be deemed reliable. This is because a sample size is gradually built up over a period of time, from which clinical and epidemiological research can take place on either a national or international scale; this is important as patient numbers for a rare condition within a designated region will generally be too low for investigating specific factors.

A patient registry can be defined as a collection of standardized information about a group of people who share a condition, a common experience or take the same medication. The benefits of registries include that they can uncover the natural history of disease, contribute to evidence-based practice, can replace clinical trials and improve outcomes. They are, however, limited in capacity for basic research, which is essential for furthering understanding of rare diseases. A biobank is a form of repository that stores and processes biological samples to which researchers can request access to. These have the advantages of having a considerable capacity for investigations and large sample numbers, but they do not collect comprehensive data or impact on clinical observations like rare disease registries do.

A systematic review by Monique Garcia et al was published in the Orphanet Journal of Rare Diseases, which evaluated the benefits and shortfalls of rare disease patient registries (REG) and biobanks (RDBB) and explored the advantages of using a registry and biobank together (REG+BB). 7 areas were examined: omics, epidemiology and phenotypic studies, translational science, clinical observations, clinical treatments, facilitators and barriers.

Omics refers to basic research in biology focussing on genomics, proteomics or metabolomics. It essentially revolves around the characterisation of biological molecules in terms of structure, function and dynamics. Both RDBB and REG+BB benefitted Omics studies and discoveries, such as uncovering biological pathways involved in disease and biomarker discovery and validation. The review found that this research was not possible to conduct solely in REG. Epidemiology and phenotypic studies were all shown to be effective by all three resources. From a translational science perspective, REG+BB and RDBB could both contribute to research projects in terms of biospecimens, whereas REG could not, and so this resource lacked the capacity to aid development on new tools and therapies.

REG+BB, REG and RDBB were all shown to impact rare disease research outcomes by increasing patient recruitment and novel safety monitoring approaches. REG are especially valuable for clinical trials as they offer study designs other than randomised controlled trials as there is a large cohort with no specified treatment, offering up real-world information and a longer period of observations.

In terms of clinical observations, the review stated that REG and REG+BB could provide insights into the natural history of diseases, whereas RDBB did not store that type of information. All three were useful for understanding diagnoses, survival rates and patient outcomes, as REG could observe the length of delays between symptom onset and diagnosis and establish survival rates, and RDBBs allowed retrospective diagnoses. Both REG+BB and RDBBs are able to support the development of new diagnostic testing methods, and REG and REG+BB contributed to treatment evaluation and guidelines of treatment, all three of which are key parts of clinical treatment.

Garcia et al suggested that facilitators are crucial to the setting up of patient registries and biobanks. These include stakeholders, collaboration, engagement, recruitment and proactive marketing. All three collaborated with numerous groups, such as hospitals, academic centres, patient advocacy groups and pharmaceutical groups. The added benefit of this is that it can be on a national or international scale. Engagement strategies mentioned by the resources involved an international registry, ongoing communication between the registry and participating sites, using data collection forms in place of clinical notes to ease the burden of form filling, and equal sharing of funding to enable continuation of data collection. All resources in the review employed novel methods for the recruitment of RD patients – this methodology is especially important given the small number of patients that are geographically scattered. This links to a targeted, proactive marketing approach, as the study display how even one biobank can have a considerable impact on RD research outcomes, and can contribute to key research studies throughout the world.

All three have fundamental barriers. Incomplete datasets and data inaccuracies are of regular concern within registries, mostly due to lack of follow-up data, lack of standardisation and difficulties in capturing all patient cases. If biobanks cover a broad range of diseases, they become limited in their ability to reach a critical mass for a particular disease category. REG+BB and RDBBs share difficulties in implementing next-generation sequencing (NGS) due to legal and ethical concerns. Current informed consent can be restricted to that patient's particular disease, lacking the necessary broad consent to implement NGS.

The review suggested that the combined option of REG+BB is the most attractive, as the linkage provides a strong foundation to translate basic research into clinical practice. When annexed to a biobank, a registry can identify and validate biomarkers, uncover novel genes, elucidate pathogenesis and develop new therapeutics, whilst collecting comprehensive clinical and epidemiological data. It is a unique, practical and cost-effective solution for the unmet needs of RD research.

Studies such as these are important as they can help us to understand what organisations like SRUK need to do in order to support research, and therefore accelerate benefit to patients. We recognise that many of our community's hopes for better treatments, earlier detection and eventually, a cure, lie in making sure that research is supported in the best possible way.

Although it can be a lengthy process, facilitating the set up of a nationwide registry and biobank network would be a step in the right direction towards achieving these goals.


Epidemiological research: this is the study of diseases in terms of their distribution and determinants within a population of humans or other species to understand how and why they occur.

Patient registry: a collection of standardized information about a group of people who share a condition, a common experience or take the same medication.

Biobank: a form of repository that stores and processes biological samples to which researchers can request access to.

REG: registries (in the context of this study).

RDBB: rare disease biobank (in the context of this study).

Phenotypic studies: the analysis of an organism's or a group of defined organisms' observable physical characteristics.

Translational science: the findings of medical research being translated in medical practice and meaningful health outcomes.

Genomics: study of the structure, function, evolution, and mapping of genomes.

Proteomics: the study of proteins.

Metabolics: study of chemical processes involving metabolites and metabolic processes.

REG+BB: registries and biobanks (in the context of this study).

Randomised controlled trials: a type of scientific experiment that is performed to reduce bias when testing a new treatment or theory. Participants are randomly allocated to either the group receiving the treatment under investigation or to a group receiving standard treatment (or placebo treatment) as the control.

Retrospective diagnosis: the identification of illness following death using modern knowledge or classification techniques.

Next-generation sequencing: a technology that allows the sequencing of DNA and RNA, making the study of genomics and molecular biology much more efficient.

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