Population Biobanks: A Remarkable Tool to Investigate the Impact of Genetic Variants in Human Diseases

Population Biobanks: A Remarkable Tool to Investigate the Impact of Genetic Variants in Human Diseases

The term “biobank” refers to an organized collection of biological samples stored at low temperatures, donated by groups of people. Along with the information regarding donors, this tool serves as an invaluable and remarkable resource for research on genetic factors and molecular mechanisms involved in the occurrence of pathological conditions. A population-based biobank has become a vital tool in discovering disease genes in this modern age. Multiple traits and diseases can be investigated simultaneously with a biobanking system, and relationships between unrelated phenotypes may be discovered.1

Biological samples are collected and stored at optimal storage temperature and the fundamental purpose of these biological sample banks is to store different kinds of biological samples that can be used for future research.2

Over the past 30 years, approximately more than 120 biobanks have been established all over the globe. There is a wide range of collections, from small biorepositories mainly maintained by universities to larger repositories supported by the government and private organizations. In addition to collecting and storing samples, these laboratories also provide research information on pathology and cellular biology.3

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Nowadays, the development of biobanks is accelerating. The tools help researchers analyze more biological samples to identify disease mechanisms and identify patients who may benefit from particular treatment approaches. Over the past few years, population biobanks have become an increasingly important tool for studying disease genes. Through the use of biobanks, a wide range of traits and diseases can be examined simultaneously, as well as the relationship among previously unconnected phenotypes.

A recent revolution in genetic science has been spurred by the discovery that many common diseases are multi-factorial in nature. It is now possible to collect data and tissue from individuals across whole populations in large-scale biobanks. It is useful to understand the role of genes in the prevention of disease and the development of health. It is imperative that biobanks serve as a valuable resource in understanding how genetic factors relate to disease outcomes.4

A population-based biobank collects biological tissue from an individual or group of individuals who may or may not have any kind of specific disease. The goal of genetic databases is to analyze DNA exclusively in order to determine the genetic determinants of common or uncommon diseases, regardless of whether these biological specimens were obtained from the general population or not.5

In general, population-based biobanks are designed to analyze biomarkers in conjunction with medical history and lifestyle. A single gene mutation causes rare diseases; thus, this link can provide a powerful tool to help us understand the genetic factors that contribute to diseases such as Alzheimer’s disease, diabetes, cancer, and schizophrenia, and as well as adverse outcomes such as congenital defects and preterm birth.6

Biobanks hold an enormous amount of genetic information and can be accessed by scientists for a wide variety of research purposes. Each biobank focuses on a specific application that has a different genotyping strategy and relies on a different source of sample and data from volunteers.

The UK Biobank, for instance, has compiled genetic information from approximately 500,000 consenting participants from the National Health Service of the United Kingdom, along with blood and urine samples, as well as complete medical histories. The UK Biobank has access to all of the patients’ medical records through the whole system and the data can be accessed by any researcher looking for information about the wide range of diseases and traits.7

The advantage of population-based biobanks is that they provide information about allele or gene frequency (for example, the proportion of individuals with particular sequences of DNA at specific sites in the genome) in the population from a large number of participants.

In addition, it is not understood in enough detail the genomic factors that play a key role in most common diseases to affect patient care or public health initiatives. By providing access to biobanks about genetic and modifiable risk factors, population-based research may somehow effectively contribute to disease prevention. The integration of whole-genome sequencing and deep phenotyping into clinical assessments could prevent or treat many diseases that are underdiagnosed today. 8

In this domain, researchers are slowly moving from a discovery phase to an implementation phase. It’s not easy translating vast amounts of information at a reasonable price into widespread use. There are a lot of uncertainties about the future of biobanks, but it seems likely that this tool will become more prominent and longer-lasting and will be more helpful to provide the opportunity to investigate health and disease in the near future.9



  1. Sun, B. B., Kurki, M. I., Foley, C. N., Mechakra, A., Chen, C. Y., Marshall, E., … & Runz, H. (2022). Genetic associations of protein-coding variants in human disease. Nature, 1-8.
  2. Coppola, L., Cianflone, A., Grimaldi, A. M., Incoronato, M., Bevilacqua, P., Messina, F. … & Salvatore, M. (2019). Biobanking in health care: evolution and future directions. Journal of translational medicine, 17(1), 1-18.
  3. Artene, S. A., Ciurea, M. E., Purcaru, S. O., Tache, D. E., Tataranu, L. G., Lupu, M., & Dricu, A. (2013). Biobanking in a constantly developing medical world. The Scientific World Journal, 2013.
  4. Ma”n, H. Z., Knoppers, B., & Thorogood, A. (2014). Population biobanking and international collaboration. Pathobiology, 81(5-6), 276-285.
  5. Wang, Q., Dhindsa, R. S., Carss, K., Harper, A. R., Nag, A., Tachmazidou, I., … & Petrovski, S. (2021). Rare variant contribution to human disease in 281,104 UK Biobank exomes. Nature, 597(7877), 527-532.
  6. Garcia, M., Downs, J., Russell, A., & Wang, W. (2018). Impact of biobanks on research outcomes in rare diseases: a systematic review. Orphanet journal of rare diseases, 13(1), 1-13.
  7. Swede, H., Stone, C. L., & Norwood, A. R. (2007). National population-based biobanks for genetic research. Genetics in medicine, 9(3), 141-149.
  8. Sun, B. B., Kurki, M. I., Foley, C. N., Mechakra, A., Chen, C. Y., Marshall, E., … & Runz, H. (2022). Genetic associations of protein-coding variants in human disease. Nature, 1-8.
  9. Doucet, M., Yuille, M., Georghiou, L., & Dagher, G. (2017). Biobank sustainability: current status and future prospects. Journal of Biorepository Science for Applied Medicine.