Main Menu

Illumina To Conduct Large-Scale Genotyping

Study Designed to Understand Genetic Susceptibility, Mechanisms of Disease Progression, and Cancer Therapy Management


Tuesday 8 November 2005


Illumina, Inc. (NASDAQ: ILMN) announced today that it has signed a multi-phase genotyping services agreement to support colorectal cancer researchers funded by Cancer Research UK, the world’s leading independent charity dedicated to cancer research.  The multi-million dollar agreement extends over several years and includes two major phases.  In the first phase of the project, Illumina’s service group will conduct dense, whole-genome genotyping (>500,000 single nucleotide polymorphisms, or SNPs, per sample) for at least 4,000 well-classified colorectal patients and controls.  In the second phase, Illumina will genotype over 10,000 samples using a custom, multi-sample BeadChip that will enable analysis of 20,000 SNPs per sample.   Both phases will use Illumina’s Sentrix® Arrays and Infinium™ Assay with the option to employ related assay methods.  


Illumina’s genotyping services group will support work being driven scientifically by a collaboration comprising two major Cancer Research UK-funded research groupings in the UK investigating the genetic basis of colorectal cancer.  One of the research groups in Edinburgh is led by Professor Malcolm Dunlop and Professor Harry Campbell of the Edinburgh University Colon Cancer Genetics Group and is based in the MRC Human Genetics Unit.  The London research group comprises teams led by Professors Richard Houlston and Ian Tomlinson, at the Molecular and Population Genetics Team of The Institute of Cancer Research and the Molecular and Population Genetics Laboratory at the Cancer Research UK London Research Institute, respectively.  The aim of the work is to investigate the role of common genetic variation in the etiology of large bowel cancer.   From the work, it is hoped that it will be possible in the future to design and validate biomarkers associated with colorectal cancer susceptibility and disease progression, as well as to facilitate development of improved therapeutic approaches.


Cancer of the large bowel and rectum (colorectal cancer) is the most common cause of cancer-related early death among non-smoking males and females.  Yet when detected early, the disease can be treated effectively 90% of the time. Almost every patient who develops colorectal cancer requires surgery as part of the treatment.  So there is significant incentive to understand the genetic basis of the disease with the aim of developing improved preventive strategies in addition to more enlightened treatments for optimized clinical outcomes.


Harpal Kumar, Chief Operating Officer of Cancer Research UK, describes the study as “fully consistent with our organizational objective of conducting world-class research into the biology and causes of cancer. 


“We’re very keen to work with Illumina on this project and we believe that the results will help Cancer Research UK pave the way for better understanding of cancer and improved quality of life for cancer patients,” Kumar stated.


Phase I of the project will include at least 4,000 well-classified colorectal patients and controls.  Each sample will be genotyped with the Sentrix HumanHap-1 BeadChip and the Sentrix HumanHap-1S BeadChip using Illumina’s Infinium assay.  SNP content for the two BeadChips is derived largely from high-value TagSNPs identified in the recently completed HapMap Project.  Together, the two BeadChips will enable genotyping of over 500,000 SNPs per sample, with comprehensive genomic coverage and industry-leading data quality.  Phase I will focus predominantly on: 1) finding candidate genes that may confer susceptibility to colorectal cancer; 2) charting the prevalence of genetic mutations and associated risk factors in these genes; and 3) understanding how these factors affect the epidemiology, or progression, of the disease. 


Following analysis of Phase I data, Illumina will develop a custom, multi-sample BeadChip that enables the study of 20,000 SNPs per sample using the Infinium assay.   Research teams will analyze data from over 10,000 samples genotyped on the custom BeadChip with the goal of identifying  low-prevalence, high-effect markers and functionally important SNPs exhibiting unequivocal association to colorectal cancer and disease predisposition.


 “We’re very pleased to be working with Cancer Research UK to help their research teams gain insight into the genetic basis of colorectal cancer,” said Jay Flatley, Illumina President and CEO.  “To our knowledge, this will be the largest and most informative genotyping study of its kind ever conducted.  The study design is made possible by the HapMap-derived tools that will allow Illumina to perform very efficient whole-genome genotyping, providing the Edinburgh and London Research teams the statistical power for significant cancer discovery.”


- ends -


For further information please contact:

Jay Flatley

President & CEO


[email protected] 


William Craumer

Director, Corporate Communications


[email protected]


Notes to Editors:

  • Cancer Research UK (, is the world's leading independent charity dedicated to research on the causes, treatment and prevention of cancer.  Cancer Research UK’s vision is to conquer cancer through world-class research, aiming to control the disease within two generations. With an annual scientific budget of nearly $380 million, which is raised almost entirely through public donations, Cancer Research UK supports the work of over 3,400 scientists, doctors and nurses working across the UK.  Initiatives funded by Cancer Research UK include cancer epidemiology studies conducted at The Institute of Cancer Research (, a College of the University of London.
  • Illumina ( develops and markets next-generation tools for the large-scale analysis of genetic variation and function. The Company's proprietary BeadArray technology -- used in leading genomics centers around the world -- provides the throughput, cost effectiveness and flexibility necessary to enable researchers in the life sciences and pharmaceutical industries to perform the billions of tests necessary to extract medically valuable information from advances in genomics and proteomics. This information will help pave the way to personalized medicine by correlating genetic variation and gene function with particular disease states, enhancing drug discovery, allowing diseases to be detected earlier and more specifically, and permitting better choices of drugs for individual patients.
  • “Safe Harbor” Statement under the Private Securities Litigation Reform Act of 1995: this release may contain forward-looking statements that involve risks and uncertainties.  Among the important factors that could cause actual results to differ materially from those in any forward-looking statements are the costs and outcome of Illumina’s litigation with Affymetrix, the Company’s ability to scale and integrate CyVera technology, the ability to further scale oligo synthesis output and technology to satisfy market demand deriving from the Company’s collaboration with Invitrogen,  Illumina’s ability to further develop and commercialize its BeadArray technologies and to deploy new gene expression and genotyping products and applications for its platform technology, to manufacture robust Sentrix® arrays and Oligator® oligonucleotides, and other factors detailed in the Company’s filings with the Securities and Exchange Commission including its recent filings on Forms 10-K and 10-Q or in information disclosed in public conference calls, the date and time of which are released beforehand.  Illumina disclaims any intent or obligation to update these forward-looking statements beyond the date of this release.
  • Note:  How Illumina Is Helping Scientists Understand the Genetic Basis of Cancer.  Illumina markets a broad portfolio of integrated array-based solutions for understanding the genetic basis of cancer.  In addition to the breakthrough Infinium assay, Illumina has also developed the DASL® assay, which enables cancer researchers to generate reproducible gene expression profiles from degraded RNAs such as those found in paraffin-embedded samples.  Over 500 million such samples are estimated to exist globally for cancer alone.  Illumina is also developing novel assay technologies to help scientists identify and analyze molecular mechanisms -- including DNA methylation and loss of heterozygosity -- that affect gene regulation and epigenetic activity associated with cancer phenotypes and disease progression.   In September 2005, Illumina installed a production-scale BeadLab at the National Cancer Institute (NCI) for large-scale, array-based research into the genetics of breast and prostate cancer.


comments powered by Disqus