A biorepository for translational diabetesJanuary 6, 2020
Diabetes is a major disease with preventable complications that are known to contribute to significant mortality and morbidity. Diabetes management is still a clinical challenge, and identifying new biomarkers that have the potential to predict disease progression for monitoring therapeutic interventions will aid clinicians in better management.
Blood or peripheral blood samples (PBMCs) are frequently used in diabetes research for developing better diagnostic and treatment regimes. Clinically well-annotated blood samples are used in developing new treatment methods, assessing diabetes risk and predicting associated complications at an early stage. They also help in the identification of high-risk populations for disease occurrence and progression. Access to high-quality, well-characterised biospecimens, including PBMCs to bring new therapies to patients in need, will accelerate diabetes research. Much of the research on the pathophysiology of the disease and its complications are done on animal models.
At present, specialised biobanks to validate discoveries made in animal studies do not exist in India. At the same time, developing and building a disease-specific biobank for diabetes can facilitate basic and clinical research and will allow us to better understand chronic disease like diabetes. A carefully designed and established biobank with a large cohort of patients diagnosed with different diabetes subtypes and covering different geographical areas will serve as a valuable resource to study risk factors for the disease, including molecular biomarkers for disease progression and complications.
Depending on the type of sample stored, specialized biobanks — including disease centric, genome biobank (genetic or DNA/RNA), tissue/multiple specimen type biobanks etc. are developed. Population-based biobanks are huge repositories created to collect, analyse and store phenotypic and genotypic information on the representative samples of source populations. Such repositories have been developed by countries including the UK, Denmark, Canada, South Korea, Japan, Singapore, USA and Iceland. These types of repositories require widespread collaborations for funding, governance and maintenance. Population-based biobanks are best suited to study rare diseases and genetic variants with small effects.
Hospital-based biobanks or single institutional biobanks are developed by investigators for their research projects and include a smaller collection of samples, or samples from multiple studies with common storage and governance. When the biospecimen and data is dispersed in biobanks in multiple locations, virtual biobanks designed to connect biobanks through specialised software or web portals are established for broad-based sharing of these resources. Disease-specific biobanks are generally developed in hospitals for epidemiological studies and focus on amassing a large population of samples from persons with specific disease conditions like AIDS, cancer, diabetes etc..
A diabetes disease-specific biobank will serve as a resource for investigating many clinically relevant research questions. Only a repository with complete and accurate clinical data linked to biospecimen will have the potential for future scientific utility. Several working models for biospecimen repositories exist and specimen collection can be done retrospectively or prospectively, according to study needs. India is a country with diverse ethnic population and a very high burden of communicable and non-communicable diseases. Therefore, the Indian population is an important resource for research material. Building India as an Innovation nation is a national priority and the Indian government has supported the development of translational research facility including biobanks. India already has a commercial biobank established as a joint venture between Apollo hospitals and Saarum Innovations.With strong support from the Indian government, translational cancer research has progressed with the establishment of regional biobanks and their linkage with the overarching national cancer biobank. The establishment of the national cancer grid has enabled a high quality and uniform diagnosis and treatment protocol for cancer across the country. However, India still lacks a disease-specific population biobank for diabetes. With more than half of the world’s diabetes population, the absence of a major diabetes-specific research biorepository in India is a major concern.
The author is medical scientist and former director of SGRF, Bangalore