Biobanks – The Cornerstone of Precision Medicine

In 1985, American scientists proposed the Human Genome Project, aiming to map the base sequence information contained in the human genome to create a human genome map and explore the mysteries of human life. In 1990, the Human Genome Project was officially launched, with scientists from the United States, the United Kingdom, France, Japan, and China collaborating to carry out this monumental project in the history of human scientific development. After costing $3 billion and taking more than 10 years, in June 2001, the draft of the human genome map was officially published, marking the successful completion of the Human Genome Project. The successful implementation of the Human Genome Project also gave birth to a new discipline: genomics.

Genomics is the study of all the genes in an organism, encompassing research on gene structure, function, evolution, and location. The human genome contains 25,000 genes, totaling over 3 billion base pairs, distributed across 46 chromosomes. These base pairs, arranged in specific sequences, form genes, creating three-dimensional structures and performing various functions, thus generating trillions of biological information. Starting with the Human Genome Project, biological sequencing technology rapidly advanced from first-generation sequencing to high-throughput sequencing (also known as next-generation sequencing or second-generation sequencing), ushering in the era of high-throughput omics in the field of biotechnology, and leading to an explosion of biological information and data.

With the maturation of gene sequencing technology, genomic data has become increasingly massive. Scientists have developed various techniques to analyze and mine this data, attempting to decipher the mysteries of human health and disease from this vast and complex dataset. It is precisely because of the accumulation of genomic data that medicine has entered the era of precision medicine. Against this backdrop, scientists in related research have realized that massive omics data, when combined with corresponding population information, such as disease information and demographic information, is necessary to accurately identify pathogenic factors and thus more precisely treat and prevent diseases.

However, traditional biological samples, including blood, urine, feces, and postoperative pathological tissue blocks, are primarily collected for clinical testing and auxiliary diagnosis, and their quality often fails to meet the needs of more diverse testing purposes. Furthermore, the accompanying information on these biological samples, including gender, ethnicity, age, disease diagnosis, and medication records, is often incomplete, hindering their full study. Therefore, standardized biobanks have emerged.

A biobank is a standardized collection, processing, storage, and application system for biomolecules, cells, tissues, and organs from healthy and diseased organisms. This includes human organ tissues, whole blood, plasma, serum, biological fluids, or processed biological samples, as well as clinical, pathological, treatment, follow-up, and informed consent data related to these biological samples, and their quality control, information management, and application systems.

In short, biobanks have the following characteristics: they possess a large number of devices for storing biological samples, such as ultra-low temperature freezers at -80°C and liquid nitrogen tanks, for storing various biological samples, including the aforementioned blood and urine, as well as their derived biological macromolecules such as proteins and DNA. The total storage capacity can reach tens of millions of standard tubes.

A crucial characteristic of biobanks is standardization. This means that the collection, processing, preservation, and use of biological samples all follow standardized operating procedures. Standardization ensures the quality of biological samples, preventing issues such as DNA breakage, protein denaturation, and RNA degradation, thus enabling sustainable use. Equally important is ensuring the comparability of information from biological samples collected by different institutions, guaranteeing their circulation and maximizing their sharing. Furthermore, standardization allows for anonymization of biological samples through appropriate workflows, maximizing the privacy of donors.