Using Big Data to Combat Major Diseases

Collecting blood, taking a swab, receiving urine or stool samples – all of these routine tests are carried out in clinics many times each day. Few patients will guess that their samples contain a hidden treasure. If these samples are stored together with thousands of other samples under controlled conditions, they will be extremely valuable to modern medical research. This process is known as biobanking.

Biobanks are state-of-the-art, often robot-controlled, ultra-deep freezing storage facilities in university clinics and research facilities. Here, large numbers of biological samples are collected and processed, and subsequently stored in accordance with strict quality criteria. Frequently, these are samples that are collected in clinics within the scope of routine medical care, for example, tissue removed during tumor surgeries, or blood samples taken from patients for routine tests that are no longer needed. Some biobanks also collect specific donations; for example, citizens are contacted based on information held by government registration offices and asked to donate blood for the purpose of isolating DNA. Researchers may then query the collected bio-samples and use these for studies geared towards, among other purposes, the development of novel medications for cancer. While in some cases an administration fee may be charged, samples may not be sold.

Strict regulations apply to highly sensitive data
What may sound easy at first is in fact a complex issue. Biobanking is strictly regulated, says Dr. Christian Röder, Operative Head of TRIBanK at the University Hospital Schleswig-Holstein (UKSH) and Kiel University. “The legal framework for biobanking and the distribution of samples to researchers is governed by privacy legislation at the state and federal levels as well as by the European Data Protection Regulation.” As such, patients must be informed, and they must consent, in writing, to the use of their samples and associated medical data for research purposes. The samples may be stored in the biobank only in a pseudonymized manner, meaning, without information that could identify a person. The medical data of patients which are associated with the samples are stored separately within the clinics.

In addition, biobanks must meet stringent requirements when it comes to the actual handling of the samples. “There are detailed standard operating procedures which determine how biological samples are collected, processed and stored”, explains Röder. Even during long-term storage, samples must remain as stable as possible; therefore, they are stored in ultra deep freezers at minus 80 degrees Celsius or in liquid nitrogen tanks at approximately minus 160 degrees Celsius. To this end, the biological material will be distributed over multiple aliquots, ensuring that the main sample does not have to be thawed and frozen multiple times if it is requested by researchers. This, too, serves quality assurance.

The purpose determines sample release
“TRIBanK in Kiel stores a six-digit number of aliquots which originate from more than 10,000 cancer patients”, says Operative Head Röder. TRIBanK is one of twelve biobanks at the UKSH campus in Kiel which have joined to form the PopGen 2.0 network (P2N). Among its members is the comprehensive biobank popgen in Kiel, a biobank supplying a worldwide demand for samples from healthy test subjects as well as samples from patients with inflammatory conditions. Christian Röder also holds the position of managing director of the P2N network and is thus responsible for application processes concerning the distribution of samples to researchers. “P2N with its biobanks is not an online store where everything on the shelf is for sale to just anyone”, he says. “Every application is individually considered with respect to which samples and data may be released, and for which purpose.”

Researchers who require these samples for their scientific work must complete an application using an online portal; subsequently, this application will be subject to several rounds of review: the respective biobank will check the availability of samples and data; an ethics review board will evaluate the application based on scientific merit; and finally, a use and access committee will verify the scientific content of the application. In most cases, researchers request biological samples together with associated medical data. It is only this combination of data and samples that will permit the discovery and assessment of novel scientific connections.

If, for example, a researcher suspects that a certain component in the blood may be connected to the development of cancer, they are able to validate their hypothesis with the help of a large number of biological samples. “It is mostly correlative studies such as these that are based on biobanking”, says Röder. Many studies of this kind would not be possible without biobanks as individual research projects cannot generate the necessary amount of data.

Who will get sick, and who will not?
This is especially true for genetic studies, explains the expert: “One has to analyze large patient cohorts in order to be able to detect, for example, a genetic predisposition for certain diseases.” Such expansive resources in terms of both samples and data are available only in biobanks. Artificial intelligence is gaining in significance when it comes to searching for patterns within these collections of “big data”: who will get sick, and who will not?

Some diseases are so rare within the population that individual biobanks cannot provide enough samples from affected patients. This is another reason why biobanks in Germany have joined forces to form the German Biobank Alliance (GBA). Together, they have millions of biological samples at their disposal which they make available to institutions across Europe. In turn, at the level of the pan-European research infrastructure BBMRI-ERIC, 20 European countries have thus far come together to bundle their biobanking resources and increase their visibility, as well as availability, across Europe. Christian Röder: “When it comes to biobanking, your strength lies in community.”

Furthermore, biobanks play a critical role in the continuous development of precision medicine which develops custom therapies. Patients with colon cancer, for example, could receive individual treatments in the future, depending on their gene mutations. Which medications are most effective for an individual case can be determined through research using biological samples. Biobanking starts small – blood, urine, skin – and at the same time, it holds the key to the future of medical research.