Large scale data and biobanks

Whether we wish to understand how our genome works, or to identify which changes in our genome cause different genetic conditions or other diseases, the power of genomics comes from comparing the genomes of different people, and often comparing their health records. This way, we can start to understand what genomic characteristics people have in common and what is different.

This enables us to learn more about the significance of specific parts of the genome, as well as the influence of those parts on a specific health condition. However, because we all have many variations in our genomes, we need to combine as many genomes as possible to identify the specific changes which are most likely to be causing our health conditions. We also need to make sure these large datasets are as representative of the global population as possible – a challenge which we will return to discuss in more detail in the step on Equity.

This means that large-scale genomic studies usually involve the collection of large numbers of people’s physical samples (blood, saliva, and/or tissue), with permission to extract and sequence the DNA within these samples. These samples are then typically put into long term secure storage facilities for future use by researchers. These are known as ‘biobanks’.

With advances in data science over the past 15 years, researchers are able to analyse increasingly complex datasets, and to make discoveries about parts of the genome that were previously unknown. Advances in how researchers view and manage the genomic information, such as cloud computing techniques, mean this genomic data may no longer be stored in physical buildings. This means multiple researchers can analyse the same data at once, from different parts of the world. However, despite these advances, the fundamental contributions remain unchanged: the unique genetic and health information provided by people who have consented to share it. This precious data deserves to be treated with great care, with the highest ethical standards applied to its use. (We will discuss ethics and access in more detail in a further step on Ethics.)

National political and scientific ambitions have combined to drive growth in the number and size of biobanks and large scale health data initiatives around the world. Many such initiatives are now underway, collecting genome (or exome) data and associated health information from many thousands of people. Some of these initiatives are focussed on specific types of health conditions (for example rare diseases or cancer), or specific types of people (for instance military veterans). Many others are seeking a broad range of ‘healthy’ volunteers so that more can be learned about general health of a population. Some nations have set an ambition to sequence the genomes of a significant proportion of their whole population (for example Estonia, Qatar). Others are collaborating as part of intercontinental networks such as H3 Africa, EU 1+M Genomes.

Here is an illustration of the variety of types, sizes and ambitions of different genomics programmes/datasets around the world:

Estonian Biobank: 212,000 people (roughly 20% of the adult population) from healthy volunteers. First recruitment 2002. April 2025 paper (Nature Communications) celebrates 25 years of the Estonian Biobank: “The Estonian Biobank was founded a quarter of a century ago, and its biological specimens, clinical, health, omics, and lifestyle data have been included in over 800 publications to date.” (Whole genome and whole exome data only available for a small proportion of those participants though).

Qatar Genome original aim of sequencing the whole population (2.7m people) seems to have been scaled back in recent years but the Qatar Biobank currently holds 40,000 whole genomes, and is aiming for 100,000. (patient info leaflet here.)

National Genomic Research Library, UK: began as the repository for 100,000 Genomes Project (first recruitment 2015); now receiving whole genomes and health data from NHS patients who give consent to share via Genomic Medicine Service. According to the website, the library currently has over 140,000 whole genomes.

USA ‘All of US’ programme: aiming to enrol over 1m volunteers from the general population, focussing on underrepresented groups within USA. Health data and whole genomes. First recruitment in 2018. Paper in 2024 presented summary findings from over 245,000 whole genomes collected so far.

Kadoorie Biobank, China: 512,000 adults, recruited from 2004 and resurveyed periodically. Looking at public health in general, e.g. impact of smoking on death rates. DNA sampling began in 2012. WGS of 400,000 samples completed in 2024 (partnership between Chinese researchers and University of Oxford, some funding from UK Medical Research Council)

USA Million Veterans programme: health information has been collected from “over one million veteran volunteers. The data include genes, lifestyles, military experiences, and exposures that may impact health and wellness”. Established 2011.

Our Future Health, UK: aiming to enrol 5m adult volunteers from across the general population. First recruitment 2022; 1 millionth recruit late 2023; now over 2 million recruited and 1m in biobank so far. Their data bank (genetic and associated health data) was opened to researchers Jan 2025. Aiming to understand and prevent common diseases.

As increasing volumes of genomic data are generated and stored, the demand for analytical tools continues to grow accordingly. As in many areas of healthcare and research, Artificial Intelligence (AI) is becoming increasingly important in genomics. The next step explores some of the implications of this for patient advocates.