Population Genomics
Microbial Genomics Oncology Genetic & Rare Disease Complex Disease Genomics Agrigenomics Cellular & Molecular Biology Research Population Genomics Pharmacogenomics Drug Discovery & Development Immunogenomics Neurogenomics Forensic Genomics Precision Health

Population genomics for health care innovation

Advancing health with large-scale genomic integration

What is population genomics?

Population genomics is the large-scale study of genetic variation across individuals and populations, combining genomic and clinical data to improve health care.1 By analyzing biological data during routine care, population genomics programs address current patient needs and build databases that support future research.2 Successful initiatives integrate medicine, research, government, and industry to enhance outcomes, manage population health, and accelerate discovery. They also attract investment from pharma, biotech, and data sectors, leveraging diverse datasets and technologies like AI and machine learning to improve care and drive economic growth.3

Building scalable genomics programs with expertise from Illumina

Illumina brings decades of experience and global collaboration to support the success of population genomics programs worldwide. From designing clinical-grade sequencing labs to building scalable data infrastructure, we help partners navigate every step from strategy and governance to health economics and stakeholder engagement. With Illumina by your side, you gain more than technology, you gain a trusted partner to redefine what is possible in precision health.

Partnering with large national programs throughout the world

See how Illumina is continuing to grow a world-wide community of government-funded genomic medicine initiatives by promoting equity and access to next-generation sequencing (NGS).

38+ nations have national genomics initiatives 

>13 million participants enrolled globally

4-fold increase​ in non-European ancestry participation since 2015​

We are at the heart of global genomic research and partnerships

Governments, research institutions, and industry leaders around the world are joining forces to accelerate precision health through genomics. Our collaborations expand access to sequencing technologies, generate large-scale genomic datasets, and drive innovation in healthcare. Explore how these initiatives are shaping the future of medicine.

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The history of the 100,000 Genomes Project

Dr. David Bentley shares the story behind the 100,000 Genomes Project and the powerful collaboration between the NHS, Genomics England, and Illumina.

How the Generation Study is aiming to transform healthcare

Discover how the Generation Study is aiming to enroll 100,000 babies to detect rare genetic conditions early and improve lifelong care using whole-genome sequencing.

Supporting initiatives for underserved populations in Australia

Learn how Australia’s OurDNA initiative is sequencing genomes from underserved communities to close diversity gaps and advance precision medicine globally.

Illumina and Abu Dhabi boost genomic healthcare

Illumina is partnering with Abu Dhabi’s Department of Health to accelerate genomic innovation in UAE through access to sequencing technology and workforce training initiatives.

Illumina supports Germany's Model project

Learn how Illumina supported Germany’s Modellvorhaben pilot project to help expand access to whole-genome sequencing and accelerate the integration of genomics into healthcare.

Singapore and Illumina to advance genomic medicine

See how Illumina and Precision Health Research Singapore (PRECISE) sequenced 100,000 Singaporean genomes to drive precision medicine and strengthen biomedical innovation.

How the Generation Study is aiming to transform healthcare

Illumina is enabling Canada’s largest-ever human genomics project by supporting sequencing of 100,000 whole human genomes across five approved sequencing centers.

We are at the heart of global genomic research and partnerships

Governments, research institutions, and industry leaders around the world are joining forces to accelerate precision health through genomics. Our collaborations expand access to sequencing technologies, generate large-scale genomic datasets, and drive innovation in healthcare. Explore how these initiatives are shaping the future of medicine.

152,000

Industry jobs

$3.3B

Federal research

$5.2B

Direct federal tax revenue

850,000

Total jobs supported

$265B

Total economic impact

4.75 : 1.00

Federal return on investment

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Vision of NIH's All of Us Research Program

Eric Topol, MD, Director of the Scripps Research Translational Institute and Professor of molecular medicine at Scripps Research, highlights the benefits of building the largest, most diverse data resource of its kind that integrates multiple longitudinal data points, with the goal of learning more about human health and disease.

The potential of population genomics

The NHS, as the single biggest integrated healthcare system in the world, is able to link lifelong healthcare information with whole genome sequencing data. It is a combination that brings benefit to patients whilst also demonstrating the UK's competitive advantage in enhancing understanding of diseases, and developing products for earlier detection and treatment.

Professor Sir Mark Caulfield Interim Chief Executive at Genomics England and Professor of Clinical Pharmacology at Queen Mary University of London

Genomic medicine has the potential to save costs and improve quality of care by targeting treatment, maximizing benefit and reducing side effects.

Dame Sally C. Davies Chief Medical Officer England

The holy grail of the health system for the future is that we take a more prognostic and preventative healthcare approach, and this will enable us to do that, by understanding some of the genetic make-up of individuals that might predispose them to developing certain conditions.

Professor Dame Sue Hill Chief Scientific Officer England and Senior Responsible Officer for Genomics in the NHS

Our timeline of advances in genomic medicine

Discover how our work in sequencing, data analysis, and proteomics is driving breakthroughs in patient care and precision medicine through impactful public–private partnerships.

2005

UK Biobank (UKBB) launches with the goal of recruiting 500,000 individuals.

2012

UKBB releases 500,000 genotype data to researchers.

2014

Genomics England (GEL) launches the 100,000 Genomes Project to sequence NHS patients with rare diseases and cancer.

2015

GEL forms a consortium with AstraZeneca to accelerate rare disease research.
UKBB Exome Sequencing Consortium (500k WES) funded by 8 pharma partners.

2018

UKBB Genome Sequencing Consortium (500k WGS) funded by Amgen, AstraZeneca, GSK, and Johnson & Johnson.
GEL expands its project to sequence 5 million genomes in 5 years.

2019

GEL releases 100,000 genomes data to researchers.
The National Health System (NHS) begins offering WGS to children with suspected rare diseases or cancer.

2020

UKBB Pharma Proteomics Project launches to measure plasma proteins in 53,000 participants.

2021

UKBB releases 300k WES and 200k WGS data to researchers.

2022

Our Future Health launches with NHS to enroll 3 million adults.
GEL announces the Generation Study to sequence 100,000 newborns in the NHS.

2023

UKBB releases 500k WGS data to approved researchers across academia, industry, and government.
Illumina collaborates with pharma partners to analyze the data using the DRAGEN germline pipeline.

2025

Illumina launches a pilot proteomics program with UKBB and biopharma collaborators to analyze 50,000 samples.

Whole-genome sequencing with Illumina Genomics Architecture

Read this Technical Note to see how Illumina Genomics Architecture v3 provides an integrated, end-to-end framework for streamlined, production-scale WGS using the NovaSeq X Plus System.

Download Tech Note

Informatics solutions and resources for population genomics

Illumina DRAGEN secondary analysis

Illumina DRAGEN (Dynamic Read Analysis for GENomics) secondary analysis enables labs of all sizes and disciplines to maximize the value of the genome with powerful, cutting-edge data analysis tools.

Whole-genome sequencing of 490,640 UK Biobank participants

Researchers sequenced the genomes of 490,640 UK Biobank participants, uncovering insights that could lead to safer, more effective diagnostics and therapies. This large-scale study advances precision medicine and highlights the potential of genomics to improve global health.

Collaboration catalyzes breakthroughs

Discover how Illumina partners with global leaders to accelerate precision medicine. From advancing drug discovery through the Alliance for Genomic Discovery to transforming population health with initiatives like PRECISE, Illumina combines cutting-edge omics tools, AI-powered insights, and worldwide expertise to turn vision into impact. Download the brochure to explore real-world success stories and learn how collaboration can drive your next breakthrough.

Unlock insights at scale

Illumina Connected Software delivers a secure, integrated platform for managing and analyzing genomic data at scale. With AI-powered insights, learn how to move seamlessly from samples to discoveries with streamlined workflows and robust compliance. Download the brochure to see how you can accelerate your multiomic research and unlock deeper biological insights.

Get started with population genomics using the power of next-generation sequencing (NGS)

See how Illumina Genomics Architecture (IGA) can offer a standardized, modular, and flexible framework to enable DNA-to-answer workflows for research and clinical whole-genome sequencing (WGS) applications.

1
Prepare libraries
2
Sequence
3
Analyze data

A breakthrough in analysis speed, accuracy, and security with DRAGEN v4.4

Learn more about the transformative potential of DRAGEN v4.4 today, where state-of-the-art, fully-integrated technology empowers you to explore new frontiers in omic research applications with precision, scale, speed, and insight like never before.

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Multiomic applications for population genomics

Uncover deeper insights into disease biology, gene regulation, and individual health risks with multiomics. By integrating studies such as proteomics, epigenomics, and more, you can build a more comprehensive biological profile to accelerate discoveries across diverse populations.

Proteomics

By integrating proteomics to uncover how protein expression varies across diverse groups, Illumina offers solutions to help link genetic variants to biology. This multiomics approach enhances precision medicine by providing deeper biological insights beyond DNA alone.

Learn more about Illumina Protein Prep

Epigenomics

Epigenomics can reveal how environmental and lifestyle factors influence gene expression across diverse populations. This added layer of insight helps researchers better understand genomic regulation using solutions such as methylation arrays and 5-base genome analysis.

Learn more about methylation arrays
Learn more about the 5-base solution for genome and methylome sequencing

Multiomic applications resources

Findings from the Generation Scotland study

See how scientists discovered over 100 associations between blood methylation sites and common disease states in a single population from over 18,000 Scottish individuals.

Unlocking biology with multiomics

Learn how Illumina is revolutionizing multiomic research with a new portfolio spanning genomics, single-cell, CRISPR, methylation, and spatial technologies, all backed by an intuitive, multimodal analysis platform.

Featured publications on population genomics

Explore impactful studies enabled by Illumina products and technologies.

Speak with a specialist

Interested in learning more about how to get started with population genomics? Fill out the form and a specialist will be in touch with you soon.

References

  1. Van Goethem N, Van der Heyden J, Smith P, et al. From concept to approval: human genomic data integration with population observational data – insights from a Belgian pilot study. Arch Public Health 2025; 83(112). doi: 10.1186/s13690-025-01581-9
  2. Khoury MJ, Armstrong GL, Bunnell RE, et al. The intersection of genomics and big data with public health: Opportunities for precision public health. 2020; 17(10). PLoS Med 17(10). doi: 10.1371/journal.pmed.1003373
  3. National Human Genome Research Institute. Artificial Intelligence, Machine Learning and Genomics. genome.gov/about-genomics/educational-resources/fact-sheets/artificial-intelligence-machine-learning-and-genomics. Accessed October 23, 2025.