Population Genomics

What Is Population Genomics?

Population genomics programs seek to innovate in health care and accelerate discovery by combining clinical information with genomic data at scale in a learning health system.1 By assaying more of the underlying biology during routine clinical care, such programs can not only deliver on the immediate needs of today’s patient, but also build a database that can be mined for insights to help tomorrow’s patient.2-4

A successful population genomics program joins the medical and research communities, along with governments and industry, into a cohesive strategy to deliver improved outcomes, more efficient population health management, and an accelerated pace of discovery through translation.

Population genomics also provides a platform for industry engagement and investment, specifically in the pharmaceutical, biotechnology, and data sectors. By integrating large, diverse data sets and using advanced computing technology (such as artificial intelligence or machine learning), health systems and partners are optimally positioned to unlock the power of the genome even further, while improving quality of life and care and fostering economic growth.

learn about foundational population genomics

Population Genomics as an Innovation Engine

Innovation is one of the key objectives across population genomics programs, as modeled by Genomics England with the 100,000 Genomes Project. Its main goals were: to realize the benefits of whole-genome sequencing (WGS) to improve patient care, provide a foundation for research, transform health care in the National Health Service (NHS), and stimulate economic growth by managing cost and realizing the promise of precision medicine.

Read Article Learn More
genomic england logo
The 100,000 Genomes Project

An innovative pilot program that demonstrated the clinical utility of WGS in rare, undiagnosed genetic disease and oncology, transforming the NHS.

View Video
The History of the 100,000 Genomes Project

Dr. David Bentley, VP and Chief Scientist at Illumina, describes the history of the 100,000 Genomes Project and the complementary and synergistic relationship between the NHS, Genomics England, and Illumina.

View Video
Dr. David Bentley headshot

The Impact of Genomics on Population Health Care

The growth of genomic medicine has had a significant impact on both the NHS in England and the global research community.5-9

icon centralized genomic test
Centralized Genomic Test Directory

Creation of a national genomic infrastructure to help incorporate genomics in health care and deliver more personalized medicine solutions to patients

icon 100 plus companies
100+ Companies in Discovery Forum

An aligned and standardized interface for public–private partnership, catalyzing industry growth in the pharmaceutical, data, and biotechnology sectors

icon 3030 researchers worldwide
3030 Researchers Worldwide

A global research community actively accessing and making discoveries from the data

icon 500000 genomes in 5 years
500,000 Genomes in 5 Years

Continuing in a global leadership position, the UK has made commitments to expand to 500,000—or possibly even 5 million—genomes in the next 5 years

How Genomics Inspired a National Vision

Generation Genome

Professor Dame Sally C. Davies’ annual update on the NHS discusses the role of genomics, the 100,000 Genomes Project, and the potential to improve clinical care.

Life Sciences Industrial Strategy

This strategic vision for the UK includes scientific support, industry growth, improved patient care, digitalization, and promotion necessary to meet the future demands of health care innovation.

NHS Long-Term Plan

This forward-looking plan describes the initiative across the NHS to promote better patient care, including plans to sequence more patients and incorporate WGS into primary clinical care.

The Topol Review

Dr. Eric Topol highlights future trends in the NHS, with recommendations to help prepare the health care system for the digital future.

app note Illumina genomics architecture

Illumina Genomics Architecture for Population Genomics

Read the Application Note to see how IGA and Illumina DNA PCR-Free Prep for WGS enable a flexible, automated NGS workflow for robust and reliable performance.

Download App Note

Global Population Genomics Programs

The 100,000 Genomes Project in the UK is joined by other similar population genomics programs in development worldwide.

Figure adapted from: Stark Z, Dolman L, Manolio TA, et al. Integrating genomics into healthcare: a global responsibility. Am J Hum Genet. 2019;104(1):13-20.

world map showing development of population genomics
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.

View Video
Eric Topol headshot

Population Genomics in the News

Genomics England to Sequence 5 Million Genomes

With the success of the 100,000 Genomes Project, Genomics England announced its goal to sequence 5 million genomes within five years.

Read Article
Australia Announces AUS $500M for Genetic Research

The Australian government will invest $500 million over 10 years for research into better disease testing, diagnosis, and treatment.

Read Article
Updates from NIH's All of Us Research Program

The initiative began in 2015 and has recruited > 175,000 participants as of July 2019, 80% of whom are from historically underrepresented populations in research.

Read Article

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 headshot
Dame Sally C. Davies headshot

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

“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 headshot
DRAGEN Bio-IT Platform
Process Population Genetics Data with the DRAGEN Bio-IT Platform

The DRAGEN platform offers a simplified workflow for cohort analysis, delivering highly accurate population call sets in a flexible and efficient manner.

This technical note outlines the process and results of evaluating joint genotyping performance using the DRAGEN Platform in three use cases that are common for large-scale PopGen projects.

Download Reference Guide

Your Partner in Population Genomics

We bring the collective expertise of Illumina and the global community together to advise on best practices, align stakeholders and partners, and ensure the overall success of population genomics efforts around the globe.


Illumina provides leading next-generation sequencing solutions. We have a wealth of experience in designing and building factory-scale, clinical-grade sequencing operations and downstream data architectures. Given our experience with global population genomics programs, we can also advise on program governance, stakeholder engagement, economics, and other non-technical factors of a successful program. Our advisory services include (but are not limited to) laboratory workflow design, informatics infrastructure and data architecture, health economics, industry engagement, program governance, and clinical research strategy.

Global Community

Population genomics programs are part of a global dialogue around standards and data accessibility. We support this dialogue by fostering collaborations and opportunities to address key learnings through global and regional events, and international consortia such as the Global Alliance for Genomics and Health.

Partnership Ecosystem

We have experience working with numerous partners in programs around the world. We can connect you with a set of industry partners who can provide technical capabilities and components for a genomics learning health system or help with implementation and accreditation needs to operate a system at scale.

Interested in learning more about population genomics?
We can help.

Email populationgenomics@illumina.com to connect with an Illumina representative.

  1. Stark Z, Schofield D, Alam K, et al. Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement. Genet Med. 2017;19(8):867-874.
  2. Jaitovich Groisman I, Hurlimann T, Shoham A, Godard B. Practices and views of neurologists regarding the use of whole-genome sequencing in clinical settings: a web-based survey. Eur J Hum Genet. 2017;25(7):801-808.
  3. Stavropoulos DJ, Merico D, Jobling R, et al. Whole genome sequencing expands diagnostic utility and improves clinical management in pediatric medicine. NPJ Genomic Medicine. 2016;pii:15012. doi: 10.1038/npjgenmed.2015.12.
  4. Willig LK, Petrikin JE, Smith LD, et al. Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings. Lancet Respir Med. 2015;3(5): 377–387.
  5. Davies SC. Annual report of the Chief Medical Officer 2016: generation genome. July 4, 2017. Accessed May 30, 2019.
  6. Gallagher P. NHS genomic testing service 'will transform patients' lives'. iNews. September 19, 2018. Accessed September 16, 2019.
  7. Prime Minister's Office, 10 Downing Street. DNA tests to revolutionise fight against cancer and help 100,000 NHS patients. December 10, 2012. Accessed May 30, 2019.
  8. Couzin-Frankel J. U.K. unveils plan to sequence whole genomes of 100,000 patients. Science. December 10, 2012. Accessed May 30, 2019.
  9. Rabesandratana T. U.K.'s 100,000 Genomes Project gets £300 million to finish the job by 2017. Science. August 1, 2014. Accessed May 30, 2019.
  10. Russell P. How routine genomic medicine 'will change people's lives.' Medscape. July 11, 2018. Accessed June 27, 2019.