The biobank journey: from patients to papers
by Guest Author on 27 Jan 2017
From blood and saliva to tumours and teeth, donated human tissue samples take a variety of forms. But why would anyone be interested in storing these samples? And what do they do with them? Dr Emma Lawrence, Project and Engagement Manager at the UK Clinical Research Collaboration (UKCRC) Tissue Directory and Coordination Centre, describes the biobank sample journey, from patients to scientific discoveries.
Human tissue samples can be taken for a number of reasons. But most frequently they are used for diagnosing disease. Often, the entire sample is not needed for this purpose and patients can be asked if they want to donate the tissue for medical research.
Sometimes healthy people are recruited to take part in studies, such as UK Biobank. As part of these studies participants are often asked to donate tissue, like blood or saliva.
Finally, there are options to donate tissue after death, including brain tissue. In this case either the donor or family express an interest and give consent for some, or all, of the body to be used for research purposes.
“Sadly, only 1 per cent of people actually die in a way in which they can be organ donors. However, 99 per cent of people can donate tissue for research,” says research nurse Joanne Mullarkey from the Ethical Tissue biobank.
Once donated, the sample is often collected or passed to someone who works at a biobank. Biobanks are places that store human biological samples for future use. At this point samples are anonymised so that all the personal details of the donor are kept confidential.
Samples often need to be processed in a particular way before they can be stored or used for research. This could mean separating out the different blood components, adding a fixative to tissue or snap freezing tissue in liquid nitrogen.
Biobanks are also known as bio-repositories, bio-resources or tissue banks. Although biobanks can take many forms, they are typically made up of large rooms of storage containers, such as freezers.
Samples can be stored at temperatures as low as -80°C or even in liquid nitrogen, which is under -200°C. Samples can remain in storage for years, so it’s important they have an uninterrupted electricity supply and are incredibly organised.
A medical researcher will sometimes need human tissue in order to study how the body works, what goes wrong in disease or how to treat disease. When this is the case they contact the biobank with a specific request.
Dr Ana Rio-Machin works on familial acute myeloid leukaemia (AML) – an aggressive type of inherited cancer affecting white blood cells – and uses a biobank at Barts Cancer Institute.
“My whole project is completely based on biobanked samples. The only way for studying familial AML is using blood or bone marrow samples taken directly from the patients,” says Ana.
Biobanks are helpful when studying rare diseases like familial AML as they allow a sufficient number of samples to be collected and used in research. Locating these tissue samples can sometimes be difficult for researchers; this was the main reason for establishing the online UKCRC Tissue Directory. The directory contains the details of biological samples and data taken from UK individuals, and held across more than 70 biobanks in the UK.
Ana screens groups of families for shared genetic mutations, to identify potential inherited mutations predisposing patients to AML. But samples can be used for a whole variety of different research studies.
“Samples can help develop early diagnostic tests, better treatments and cures for life-limiting diseases such as cancer, diabetes, Alzheimer’s disease, heart, lung and skin disease,” says Joanne from Ethical Tissue.
There are lots of scientific findings resulting from research using biobanked samples. Recent examples include the influence of genes on birth weight, identification of a gene involved in tooth development, a potential method for classifying Alzheimer’s disease, and a diagnostics test for blood cancer.
We really want to make the most of these samples as they are such a precious gift; that’s why we’re asking tissue custodians to register them in our directory. Who knows the research potential that could be unlocked if the samples become more accessible to researchers.
The MRC part-funds the national directory of biobanks. It aims to make it easier for medical researchers to locate and contact relevant resources in the UK.
The MRC launched a funding call this week for capital investment in human tissue banking and linked data, in partnership with charities. It aims to support the establishment of a focused number of world-class human tissue banks and associated linked-data repositories, to enable new research into disease mechanisms, diagnosis and treatment. The deadline for outline proposals is 27 March 2017.
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