by Chiara Facciotto and Tiia Pelkonen
Have you ever heard of biobanks? Do you know what they are and how they can benefit research and patients? Would you like to know how you can help make personalized medicine a reality? We discussed all these topics with Olli Carpén, professor of pathology at the University of Helsinki, scientific director of the Helsinki biobank and a research group leader in the HERCULES consortium.
What is a biobank?
A biobank is a place where you can store biological samples for research. Samples and patients’ clinical data are collected in hospitals and then transported to biobanks. There they are catalogued and can later be accessed by researchers interested in investigating specific medical questions.
Altogether, Finland has 11 biobanks, of which six are hospital-integrated large-scale biobanks. Currently, the Helsinki biobank (part of the Helsinki University Hospital) is the largest one, employing about 30 people. The Helsinki biobank is also coordinating the FinnGen sample collection, aiming to genotype ~10% of the Finnish population (i.e., about half a million people). Samples and data collected from the HERCULES patients who have signed a biobank consent will instead be deposited in the Auria Biobank (read also the post on HERCULES sample collection).
What exactly can you store in a biobank and for how long?
Depending on its focus, a biobank might collect different types of samples. Cohort biobanks, for instance, store biological samples (usually blood) collected from a certain group of (typically) healthy people. These biobanks follow certain age groups and, starting from a healthy person, can see how diseases evolve. Hospital biobanks, on the other hand, store blood but also tissues, urine or other types of samples collected from patients during hospital visits.
Samples are processed so they can be stored indefinitely. Raw samples like blood have to be stored at -80°C or in liquid nitrogen, or their DNA has to be extracted: this allows for them to be used for a very long time. Tissue slides can also be archived for several decades: the pathology archive of the Helsinki biobank includes samples from the 1950s that can still be used. Moreover, since 1982 the diagnostic reports of the pathology samples have also been stored in electronic format, which simplifies the search of any specific tissue type or disease entity.
It is also fundamental to pair each sample with the clinical data of the person who donated it. It has been said that a sample without associated data is of no value. So, according to the Finnish biobank law, we can link health related data to the biobank samples. In Finland this is even more beneficial since the national registry has been collecting data for more than 50 years and hospital medical records have been in electronic form for more than 10 years.
If researchers are granted permission to analyze certain samples, the research results must also be returned to the biobank after the project has ended. For instance, the FinnGen project is now starting to return its results to the biobank. So about 50,000 new genotypes will be returned to the biobank every six months. Once these data are stored in biobanks, researchers can also use them for other projects.
How is access to biobank material and data granted?
First of all, all samples must be collected and utilized with the informed consent of the patient donating them. And we know that, here in Finland, more than 90% of the patients who are asked to donate samples give their consent. People know that samples are collected for research purposes.
Researchers who want to use samples for their research have to submit a request to an ethical committee. If the committee grants the request, the researchers and the biobank sign a contract defining how the samples can be used based on the research plan.
In order to ensure the privacy of the patients and to encourage them to donate their biological material, information acquired by the biobank cannot be released to law enforcement officials or to insurance companies. Moreover data are stored in secure environments, behind firewalls. Every patient’s ID is also protected by pseudonymization, so no researcher will get any personal identification for the samples.
How has GDPR affected biobanks?
GDPR (the General Data Protection Regulation in EU) promotes the rights of a person to know what is done with their personal data, which is a positive thing. However, GDPR has definitely created some uncertainty. It doesn’t prevent researchers and doctors from doing what they have been doing so far, but figuring out how this new legislation works has slowed things down. Moreover, GDPR has also been used by certain parties to put the handbrake on personalized medicine.
How are biobanks related to personalized medicine?
Well, the whole idea of biobanks, and especially hospital biobanks, is to link research to health care. There are really interesting projects ongoing to promote personalized health. For instance, lots of efforts are currently directed to defining genetic risk scores for certain common disorders. Combining such scores with lifestyle factors might actually become the way to promote public health in the future, taking public health policies to the next level.
If you really want to establish a personalized medicine platform, you cannot do that without biobanks. In the future, the goal is to provide every patient the possibility to become a research patient. Therefore, in the coming years, biobanking will become part of the normal activities of any hospital or any health care provider. That’s how we will be able to get enough information to move from the current reactive medicine to the future of personalized medicine.
If you want to help medical research by donating a sample to a Finnish biobank you can find the information at this link.
Olli Carpén, the expert interviewed for this post, is a professor of pathology at the University of Helsinki, scientific director of the Helsinki biobank and a research group leader in the HERCULES consortium.