What is a biobank?
A biobank is a large and organised collection of biological materials that can be used for both scientific research and medical treatment. The biological materials collected in a biobank are typically human samples such as blood or tissue, and have been donated by patients and healthy volunteers. Samples are catalogued and stored along with data relating to their donor and their donor’s characteristics such as their age, gender, blood type, ethnicity, their clinical condition and their lifestyle.
Biobanking plays an important role in biomedical research including genomics and personalised medicine, and is increasingly used in clinical trials for new medicines. Linking large quantities of samples to other types of data like this this can enable researchers to better understand why certain individuals develop diseases and others don’t, and why individuals might vary in their response to treatment. Biobank developments are making it possible to examine how genes and other factors interact with each other, increasing our knowledge about particular conditions and supporting the development of targeted therapies to treat them.
Biobanks can be led by different types of organisations – within both the public and private sectors – including academic medical institutions, biotechnology companies, and stand alone independent organisations. Their role is to recruit donors and support them through the consent process; work with clinicians and other medical professionals to collect the samples and transport them to the biobank; provide systems to collect other types of data and information from the donor in a secure way and provide researchers with secure and non-patient identifying access to the samples and data.
In the UK, a large national biobank was established by a group of health charities, research councils and other public bodies. UK Biobank aims to improve the prevention, diagnosis and treatment of a wide range of serious and life-threatening illnesses and has recruited 500,000 people aged between 40 and 69 to take part. Some biobanks are being set up internationally, to increase the data available for research. For example, the EuroBioBank network, set up by patients and researchers, is operating to support research on rare diseases.
What is a patient registry?
A patient registry holds data and information on patients and patient populations, usually on those with a specific diagnosis or those with risk factors for a particular condition. The information that is stored in a registry might include a patient’s personal characteristics, details about the patient’s condition and information relating to medicines they have taken and the outcome of the treatment. This data is gathered over time and can be made available for research studies.
Patient registries are used in healthcare research; they can be used to gain an overview of a particular condition and its basic characteristics, generate new knowledge about the natural course of the condition and evaluate the effectiveness of treatments in ‘real world’ settings. They can also be used to quickly identify and contact patients who may wish to take part in a clinical trial.
Like biobanks, registries can be funded and managed by a variety of organisations including government agencies, charities or patient organisations and commercial bodies. Usually, participants volunteer to be part of a registry. More information about condition specific registries can normally be provided by your healthcare team or by a relevant patient organisation.
Why are registries important for rare disease research?
Patient registries are particularly important in the case of rare conditions; they are key to gathering enough patient data to make clinical research possible. Rare disease registries can be used to investigate how many people have a condition, how to improve patient care, assist healthcare planning and facilitate the planning of clinical trials.
A list of rare disease registries in Europe was published by Orphanet in 2016.
The National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) records information about individuals with congenital abnormalities and rare diseases in England. The registry, which was established by Public Health England, will be a resource for patients (and their families), clinicians, researchers and commissioners. The registration service has permission from the government to collect information but families can choose to opt out.