Global Biobanking

By Erik Bongcam Rudloff *, Swedish University of Agricultural Science, Department of Animal Breeding and Genetics, Bioinformatics, Tomas Klingström, Department of Animal Breeding and Genetics; Department of Animal Breeding and Genetics, Bioinformatics

To improve cancer care in low- and middle-income countries (LMICs), it is important that biobanks are embedded throughout the healthcare system, providing fine-grained data and guidance for precision medicine. Currently such data is sparse and much information is lost from LMICs as there is a lack of capacity to aggregate and analyse data in such a way that it can be shared at a national, regional and global level.

Aims of workshop

• Develop ideas on how to embed biobanking within the landscape of clinical services and encourage collaboration across disciplines.

• Identify long-term funding opportunities to bring biobanks in LMICs into international collaborations.

• Find mechanisms for strengthening local control over samples and data while encouraging international collaboration.

By understanding the molecular mechanisms of cancer and why it occurs, we can improve the precision of medical care and deploy more efficient diagnostics, treatments and preventive measures against it. Ten years ago, Time Magazine recognized the potential of biobanks to achieve these objectives and listed them as one of the top 10 ideas changing the world. Since then, significant investments have been made to establish biobanks and improve existing ones, enabling precision medicine to be merged with high-throughput omics technologies. As a result, new tools for healthcare, such as the STHLM3 test which identifies 20 % more aggressive prostate cancers and halves the number of biopsies necessary to diagnose prostate cancer, are making their way into the healthcare system. By providing the infrastructure necessary to handle the samples and time scales necessary for the development of new products and verifying their value in clinical trials, biobanks are an important partner of the industry and the healthcare system.

Certain regions have emerged as of special interest to the global research community. Iceland, with its carefully kept family records spanning a full millennium, and Finland, with its recent genetic bottleneck followed by rapid population growth, are two such examples where small populations and detailed population records make it possible to understand small but important genetic variations within a relatively homogenous population.

For cancer research and healthcare, LMICs offer many significant areas of interest. Africa, as the ancestral home of our species, offers unique opportunities as its unparalleled genetic variation provides a unique insight into the many variations of cancer and genotype-phenotype connections. LMICs in other regions such as South America also offer important insights as their colonial history provides a mixture of African variation with ancestry from the small population(s) that left Africa some hundred thousand years ago, creating a fascinating mixture of high and low linkage disequilibrium between genes. In addition to genetic factors, LMICs are exposed to distinct environmental and lifestyle factors and have a high burden of infectious diseases that contribute significantly to cancer development.

Strengthening the biobanking capacity of LMICs across the globe is also a matter of national interest for them. Improving living standards means that the cancer incidence rate is growing rapidly in LMICs as other, more easily treated, causes of death are prevented. Improved diagnostics and new cancer treatments significantly improve the quality of life and also provide long-term economic benefits as the average number of productive years increases with increased longevity. Cancer is however an extremely burdensome disease both for the healthcare system and sufferers.  Patients remain under care for long periods and require continuous monitoring by doctors to optimize the treatment regime, meaning that even high-income countries are struggling to handle the ever-increasing healthcare costs. In LMICs, where resources are limited and treatment is not affordable, there is great benefit from developing cancer prevention and control programmes. Biobanks play a key role in this research as they provide results and the evidence to develop effective prevention programmes in these settings.

Precision medicine refers to the tailoring of medical treatment to the individual characteristics of each patient by classifying them into subgroups likely to respond favourably to different treatments and is seen as one of the most promising ways to improve cancer treatment. Just as blood typing is a prerequisite for blood transfusions, a similar approach can be taken to optimizing treatment regimens for cancer. Precision medicine is however highly dependent on large-scale biologic databases, powerful omics methods for characterizing patients and computational tools for characterizing disease profiles and the populations suffering from them[1].

Even with a more traditional “blockbuster” approach, it has been realized that many drugs and treatments may require revisions between different populations [2]. With precision medicine, this need for local adaptions becomes even more vital to the development of effective treatments and the establishment of biobanks and research infrastructures for the characterization of populations as well as of their ailments will be necessary to provide modern healthcare in the coming years.

Building the biobanks we need

Medical and research biobanks are complex operational entities that must be embedded within the healthcare infrastructure and aligned with local research capacity[3]. Healthcare staff must be trained to obtain consent, quickly stabilize samples when they are extracted, process samples and transfer them to a suitable location for long-term storage. From a technical perspective, it is important that biobank operations are supported by a robust and comprehensive data management platform. Medical professionals, molecular biologists, bioinformaticians and computer scientists are all specialists vital to the large-scale research projects enabled by biobanks and must all be able to access study data (Figure 1). For daily operations, it is also important that samples can be tracked throughout the process and that sensitive personal data are tracked, updated and, if necessary, deleted from the system when requested. Establishing such an infrastructure requires a significant upfront investment and there are usually several years between when a project is initiated and when the first impact can be assessed.

In LMICs, there are several factors that prevent governments from committing funding for long-term biomedical research infrastructures. This disadvantage has resulted in an ethically doubtful practice, referred to as “helicopter research”, where researchers from high-income countries arrive, collect and leave. As a consequence, there is no consistent quality control over the entire research process and follow-up studies become hard or impossible to carry out as no sustainable infrastructure is created. Another destructive outcome from this practice is the growing reluctance from LMICs to share data and bio-resources. Mandatory consent forms are becoming increasingly restrictive with regards to how samples or data may be transferred or used for multiple purposes. As a result, biomedical research international collaborations can be negatively affected and consequently, new discoveries to improve human health are delayed.

International cooperation, investments and co-funding, are necessary to empower research capacity building in LMICs. Without control over data and the ability to analyse it, increased restrictions for sharing are a natural response as countries struggle to avoid exploitation where valuable data leave the country and generate innovations that are then sold back, at a high price, to the countries that made them possible. Empowering local research institutions allows countries to better assess the benefits, as well as the risks of international collaboration, and thereby limits the need for general restrictions against sharing and collaboration. This increases and enables collaboration while limiting the risk of nationally important research projects being completed outside the country without returning any tangible benefits to the national healthcare system. Longitudinal studies could be carried out in those countries as well as monitoring of sample donors and improvement of quality of the research process. Empowering research capacity building in LMICs will also contribute to building trust and stimulating global biobanking and global research collaboration.

Initiatives such as the Human Heredity and Health in Africa (H3Africa) initiative, Bridging Biobanking and Biomedical Research Across Europe and Africa (B3Africa) and Biobank and Cohort Building Network (BCNet) are therefore important contributions to global research as well as the implementation of national cancer care. The projects provide access to funding and training for healthcare staff and researchers that are necessary for the implementation of National Cancer Control Programmes while also bringing together stakeholders for the development of regulatory frameworks regarding the management of samples and associated data.

Current status of biobanks in LMICs

Biobanking is dominated by the West even if other regions, especially Asia Pacific, are rapidly gaining ground (Astrin and Betsou, 2016). In South America, many countries have a relatively high number of medical professionals per capita compared to other LMIC regions but lack the biobanks and modern infrastructure to run large-scale biobank-based research projects (Hernández-de-Diego et al., 2017). In comparison, Africa, despite its genomic significance on a global scale, is severely underdeveloped in respect to healthcare as well as research capacity. Investments in several flagship institutions for biobanking by the H3Africa project and capacity building by BCNet [4]and the Pan African Bioinformatics Network for H3Africa (H3Abionet) are however rapidly expanding the capacity of biobanks and associated research on the continent.