In this section you can find answers to frequently asked questions about biobanking/DNA banking. Questions about what a biobank is, what it does, why they exists are answered here. The answers are a result of a collaboration between the European Genetic Alliances Network (EGAN) and Roche.
The answers given to the questions are inevitably general. They may not all apply in every detail to any particular biobank, so if you are asked to volunteer and you have specific issues you wish to resolve, you should discuss them with the sample collector or other responsible persons before proceeding.
- What is a biobank?
- Why do biobanks exist?
- What are the different types of biobanks, and where are they?
- Is a biobank the same thing as a patient registry?
- Some common aims of biobanks
- Is it safe to join a biobank?
- Where do population-based biobanks exist?
- Why does a biobank need my sample, and samples from so many people?
- How long are biobanks set up to run for?
- What happens when they close down?
- What is a "cohort study"?
- Why do some biobanks look to recruit families, some twins and some just take individuals who volunteer?
- How can I find out if I am eligible to join a biobank?
1. What is a biobank?
Sometimes a DNA sample may be taken from you in the course of your treatment. These samples are often stored to do other research as well, if you give your consent for this to be done.
Stores of biological material are called 'DNA Banks' or 'Bio Banks'. There are many biobanks of different kinds around Europe, and as an example, you can visit the website for the UK biobank.
Information on European biobanks can be found http://www.biobanks.eu.
If you donate a DNA sample to a biobank, it only involves donating a small amount of biological material, and is not usually a serious or invasive procedure.
A sample could take the form of a swab of your saliva, it could be a small blood sample, it could be a scraping of skin cells, or it could be a small sample, or 'biopsy' of a tumour or affected part of the body.
A sample might be taken for a test as part of a regular medical procedure, or you may simply have been asked if you would be prepared to donate a biological sample for research.
Virtually all medical specialties, not just genetics, store and analyse human biological material in order to advance knowledge and develop new treatments.
So, 'biobanking' is not really a new development. It has been brought into view particularly in recent years, partly as a result of the high-profile work done in the decoding of the human genome.
There are also biobanks created specifically for research, instead of from samples from patients who are already receiving treatment. Some countries even have biobanks developed on a national scale for this purpose.
2. Why do biobanks exist?
Biobanks are set up so that researchers can examine DNA and try to establish how faults in DNA cause diseases.
Once research programs can work out the cause of different diseases and conditions, they can use this knowledge to begin to develop treatments or cures that can improve or save the lives of those affected.
Biobanks may also be set up for storing biological samples such as bone marrow from an individual, so that in the event that they develop a serious disease - Leukaemia for example - the healthy stored cells can be used for transplant in order to help them overcome the disease.
3. What are the different types of biobanks, and where are they?
There are many different types of biobanks, found in different kinds of institutions depending on what kind of research the organization carries out.
Some biobanks can be found in places such as university hospitals. Often the collections of material will have grown naturally from samples being taken from patients in the course of treatment.
Other biobanks are set up by independent research companies or drug companies, who are carrying out research and development into new treatments.
More recently, several countries have set up national biobanks, holding the biological data of up to several hundred thousand people. These biobanks try to encourage members of the public to donate samples, instead of just taking their samples from patients who are being treated.
If you have been asked if you would like to donate a DNA sample to a biobank, those asking you will be able to tell you what the purpose of their biobank is.
Tumor tissue, cells, blood, DNA, or DNA array results
Purpose / intended use
Research, forensics, transplantation, source for therapeutics (e.g. umbilical blood, stem cell biobanks for individual or community use), or diagnostics
Academic & research institutions, hospitals, biotechnology & pharmaceutical companies, and stand-alone biobank companies and foundations may hold biobanks. Ownership may be private, public or in partnership across sector boundaries
Public, managed in partnership with government
Volunteer group / group of participants
Population-based, such as all newborns, adults, or pregnant women
Disease-based, including only those with a specific disease
Disease group, regional, statewide, or national
4. Is a biobank the same thing as a patient registry?
No, a biobank is not the same thing as a patient registry. They can be complementary as they contain information that can be mutually helpful in carrying out research.
A biobank contains human tissue samples, and/or a variety of body fluids.
A patient registry has no body material. Instead, it contains information and data on patients, patient populations, patient groups and sub-groups as well as general health care information, mortality and hereditary data.
Information between a patient registry and a biobank can usually only be shared following patient consent and under the limitations imposed by proper ethical review.
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5. Some common aims of biobanks
Treatments for the most common genetic disorders:
Some genetic diseases are quite common and affect large numbers of people, for example, some forms of cancer. Research is carried out into how to treat or cure these common types of disease.
This is treatment that is tailored to the particular genetic make-up of the individual receiving it. Humans are all similar, but there is a lot of genetic variation between individuals. Treatment that works well for one person, may not work so well for somebody else. Further research is needed in how to develop personalised medicine.
Stem cell research:
Stem cells possess significant potential for the treatment and curing of a wide range of genetic conditions. Some people may wish for their stem cells to be stored in case they need to use them in the future as a treatment, should they develop a genetic disorder. Further research is needed to unlock the full potential of stem cells.
We need to understand better how genetic diseases affect people as their illness progresses. To be able to develop treatment depends on carrying out research with comprehensive collections of DNA samples, collected from those affected by specific disorders.
Many diseases have an 'environmental' factor that can influence how a disease will affect an individual. Asthma and diabetes are two examples of conditions such as this. It is important to examine how things like background air pollution, or use of alcohol, affect the development of diseases in different individuals, and how these things interact with genetics.
Age demographic databases:
Many countries have an 'ageing population', where a greater proportion of society is elderly. Healthy ageing is an important area of research to improve the lives of elderly people, and because they are economically inactive, but heavy users of healthcare.
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6. Is it safe to join a biobank?
There is only a tiny physical risk because sample taking is a very simple procedure. The procedure carries the same risk as, for example, any minor cut which punctures the skin and carries a very small chance of an infection being introduced into the body.
7. Where do population-based biobanks exist?
There are precedents around the world for large public population-based biobanks. National population-based biobanks now exist, or are being developed, in Estonia, Canada, Iceland, Japan, Latvia, Singapore, Sweden and the United Kingdom, among others.
Whereas some of these biobanks involve the compilation of genetic, life style and genealogical information, other biobanks are more extensive, with links to individual medical records. These large biobanks range in size, seeking from 60,000 to as many as a million volunteers.
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8. Why does a biobank need my sample, and samples from so many people?
This is done in order to ensure the accuracy of results.
The number of samples necessary depends on the research question that scientists seek to answer. All medical research results depend on appropriate statistical analysis. To arrive at conclusions that are reliable and not likely to be a coincidence or due to chance, it is always necessary to examine a number of key samples in each group. This will allow the identification of shared or common characteristics, such as a biomarker that is typical for a disease.
Generally, the more complex a question asked is, the larger the group of research participants will need to be. Commonly, study sizes range from less than 100 to many thousand participants. A biobank that contains samples that will allow a number of such studies to proceed may therefore reach considerable size.
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9. How long are biobanks set up to run for?
Most biobanks are established with the intention of lasting for a long period of time, usually many years.
However, it is possible that some tissues will deteriorate after prolonged periods of storage. This deterioration will mean that the samples are no longer of any value to researchers.
The biobank is likely to have a policy of disposing of material after storage for a period of, for instance, 10, 20 or 30 years. In some countries legislation exists on the period of time that samples and data can be stored.
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10. What happens when they close down?
If a biobank was created for a specific purpose that no longer has relevance, or if the establishment hosting the biobank closes, then the samples stored in the biobank should all be destroyed.
In some cases, samples would be transferred to another host organisation. In such cases the accepting organisation must continue to protect the privacy of the sample donor, and ensure that they comply with the terms of consent given by participants that originally donated their tissues.
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11. What is a "cohort study"?
A Cohort Study is a study in which patients who have a certain condition and/or receive a particular treatment are followed over time and compared with another group who are not affected.
For instance, the effect of smoking on health could be studied by following two groups, the first of people who smoke and a second of people who do not. The study would then follow both groups over time to see what health problems, if any, they develop.
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12. Why do some biobanks look to recruit families, some twins and some just take individuals who volunteer?
Genetic information has provided the key to unlocking the mysteries of many diseases.
The study of one single family can reveal important information on genetic differences. Since the genetic differences within one family are relatively small, this increases the chance of identifying important differences that lead to some people having the condition.
Identical twins have identical genes. So any biological differences between twins must be the result of environmental factors, such as their diet. Twins therefore provide a powerful tool to study the impact of nature versus nurture for many conditions.
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13. How can I find out if I am eligible to join a biobank?
There is an increasing number of biobanks now being established.
Generally, you will be asked directly to participate in this research by your health care provider, often in the context of participating in a drug trial or other clinical research which you are contributing to. If you wish to proactively volunteer, then the best source of information on biobanks operating in your local area is the internet. Examples of weblinks to some biobanks are given in the 'links' section. However, consultation with a physician is advisable in any case.