About Illumina Inc
Illumina, Inc. provides sequencing- and array-based solutions for genetic and genomic analysis worldwide. The company’s customers include leading genomic research centers, academic institutions, government laboratories, and hospitals, as well as pharmaceutical, biotechnology, commercial molecular diagnostic laboratories, and consumer genomics companies. The company sells its products to a number of customers outside the United States, including customers in other areas of North America, Latin America, Europe, China, and the Asia-Pacific region.
The company’s portfolio of integrated sequencing and microarray systems, consumables, and analysis tools is designed to accelerate and simplify genetic analysis. This portfolio addresses the range of genomic complexity enabling customers to select the best solution for their research or clinical application.
On August 18, 2021, the company acquired GRAIL, Inc. (GRAIL), a healthcare company focused on early detection of multiple cancers. GRAIL’s Galleri blood test detects various types of cancers before they are symptomatic.
Principal Markets
The company targets the markets and customers outlined below.
Life Sciences
Historically, the company’s core business has been in the life sciences research market. This includes laboratories associated with universities, research centers, and government institutions, along with biotechnology and pharmaceutical companies. Researchers at these institutions use the company’s products and services for basic and translational research across a spectrum of scientific applications, including targeted, exome, and whole-genome sequencing; genetic variation; gene expression; epigenetics; and metagenomics. Next-generation sequencing (NGS) technologies are being adopted due to their ability to sequence large sample sizes quickly and accurately, generating vast amounts of high-quality data. Both private and public funding drive this research, along with global initiatives to characterize genetic variation.
The company’s products also serve various applied markets, including consumer genomics and agrigenomics. For example, in consumer genomics, the company’s customers use its technologies to provide personalized genetic data and analysis to individual consumers. In agrigenomics, government and corporate researchers use the company’s products and services to explore the genetic and biological basis for productivity and nutritional constitution in crops and livestock. Researchers can identify natural and novel genomic variation and deploy genome-wide marker-based applications to accelerate breeding and production of healthier and higher-yielding crops and livestock.
Clinical Genomics
The company focuses on enabling translational and clinical markets through the introduction of best-in-class sequencing technology. Further, the company is developing sample-to-answer solutions to catalyze adoption in the clinical setting, including in reproductive and genetic health and oncology. In reproductive health, the company’s primary focus is driving noninvasive prenatal testing (NIPT) adoption globally through its technology, which identifies fetal chromosomal abnormalities by analyzing cell-free deoxyribonucleic acid (DNA) in maternal blood. The company’s NGS technology is also accelerating rare and undiagnosed disease research to discover the genetic causes of inherited disorders by assessing many genes simultaneously.
Customers in the translational and clinical oncology markets use the company’s products to perform research that may help identify individuals who are genetically predisposed to cancer and to identify molecular changes in a tumor. The company’s technology is being used to research the implications of circulating tumor DNA (ctDNA) in treatment determination, treatment monitoring, minimal residual disease, and asymptomatic screening. For example, GRAIL’s Galleri blood test for early-stage cancer detection is enabled by the company’s sequencing technology.
Principal Products, Services, and Technologies
The company’s unique technology platforms support the scale of experimentation necessary for population-scale studies, genome-wide discovery, target selection, and validation studies. Customers use the company’s products to analyze the genome at all levels of complexity, from targeted panels to whole-genome sequencing. A large and dynamic Illumina user community has published hundreds of thousands of customer-authored scientific papers using the company’s technologies.
Most of the company’s product sales consist of instruments and consumables, which include reagents, flow cells, and microarrays, based on its proprietary technologies. The company also performs various services for its customers. In 2021, instrument sales represented 17% of total revenue; consumable sales represented 71% of total revenue; and services represented 12% of total revenue.
Sequencing
The company’s portfolio of sequencing platforms represents a family of systems that set the standard for productivity and accuracy among NGS technologies. Customers use the company’s platforms to perform whole-genome, de novo, exome and RNA sequencing, and targeted resequencing of specific gene regions and genes.
The company’s DNA sequencing technology is based on its proprietary reversible terminator-based sequencing chemistry, referred to as sequencing by synthesis (SBS) biochemistry. SBS tracks the addition of labeled nucleotides as the DNA chain is copied in a massively parallel fashion. The company’s SBS sequencing technology provides researchers with a broad range of applications and the ability to sequence even large mammalian genomes in a few days rather than weeks or years.
The company’s sequencing platforms can generate between 500 megabases (Mb) and 6.0 terabases (Tb) (equivalent to approximately 48 human genomes) of genomic data in a single run, depending on the instrument and application.
Illumina informatics products play a critical role in supporting the company’s sequencing applications and customers’ needs across a range of activities, including sample preparation, instrument control and management, and post-run analysis.
The company’s BaseSpace Informatics Suite integrates directly with its sequencing instruments, allowing customers to manage their biological sample and sequencing runs, process and analyze the raw genomic data, and derive meaningful results. It facilitates data sharing, provides data-storage solutions and streamlines analysis through a growing number of applications developed by the company and the bioinformatics community. The company’s DRAGEN Bio-IT Platform is used for secondary analysis and analyzes sequencing data from a variety of experiment types, including whole genomes, whole exomes, germline and somatic datasets, and RNA sequencing experiments with industry leading accuracy, speed and efficiency. Additionally, Illumina Connected Analytics is an integrated bioinformatics solution that provides a comprehensive, private, cloud-based data platform that empowers customers to manage, analyze, and explore large volumes of multi-omic data in a secure, scalable, and flexible environment. In 2021, total sequencing revenue consisted of 91% of total revenue.
Arrays
Arrays are used for a broad range of DNA and RNA analysis applications, including single nucleotide polymorphism (SNP) genotyping, copy number variation (CNV) analysis, gene expression analysis, and methylation analysis, and enable the detection of millions of known genetic markers on a single array. Arrays are the primary technology used in consumer genomics applications.
The company’s BeadArray technology combines microscopic beads and a substrate in a proprietary manufacturing process to produce arrays that can perform many assays simultaneously. This facilitates large-scale analysis of genetic variation and biological function in a unique, high-throughput, and flexible manner. Using the company’s BeadArray technology, it achieves high-throughput analysis via a high density of test sites per array and the ability to format arrays in various configurations. To serve the needs of multiple markets and market segments, the company can vary the size, shape, and format of the substrate into which the beads self-assemble and create specific bead types for different applications. The company’s iScan System and its NextSeq 550 System can be used to image arrays. In 2021, total array revenue consisted of 9% of total revenue.
Consumables
The company has developed various library preparation and sequencing kits to simplify workflows and accelerate analysis. The company’s sequencing applications include whole-genome sequencing kits, which sequence entire genomes of any size and complexity, and targeted resequencing kits, which can sequence exomes, specific genes, RNA or other genomic regions of interest. The company’s sequencing kits maximize the ability of its customers to characterize the target genome accurately and are sold in various configurations, addressing a wide range of applications.
Customers use the company’s array-based genotyping consumables for a wide range of analyses, including diverse species, disease-related mutations, and genetic characteristics associated with cancer. Customers can select from a range of human, animal, and agriculturally relevant genome panels or create their own custom arrays to investigate millions of genetic markers targeting any species.
Services
The company provides whole-genome sequencing, genotyping, NIPT, and product support services. Human whole-genome sequencing services are provided through the company’s CLIA-certified, CAP-accredited laboratory. Using the company’s services, customers can perform whole-genome sequencing projects and microarray projects (including large-scale genotyping studies and whole-genome association studies). The company also provides NIPT services through its partner laboratories that direct samples to it on a test send-out basis in its CLIA-certified, CAP-accredited laboratory. In addition, the company offers support services to customers who have purchased its products.
GRAIL
GRAIL’s multi-cancer early detection test, Galleri, is designed as a screening test for adults with an elevated risk for cancer, such as those aged 50 or older, and was commercially launched in 2021 as a laboratory developed test.
Intellectual Property
As of January 18, 2022, excluding GRAIL, the company owned or had exclusive licenses to 1,019 issued U.S. patents and 789 pending U.S. patent applications, including 43 allowed applications that have not yet issued as patents. The company’s issued and pending patents cover various aspects of its arrays, assays, oligo synthesis, sequencing technology, instruments, digital microfluidics, software, bioinformatics, and chemical-detection technologies, and have terms that expire between 2022 and 2042.
As of January 3, 2022, GRAIL had exclusive licenses to more than 400 issued or granted patents and more than 190 pending patent applications globally, including 36 issued U.S. patents. GRAIL also owned or co-owned more than 390 pending patent applications globally, including more than 110 pending U.S. non-provisional and provisional patent applications. GRAIL’s patent portfolio includes patents and patent applications related to sequencing, library preparation and enrichment, marker panels, methylation profiling, and bioinformatic techniques and classifiers. GRAIL’s licensed patents and patent applications will begin to expire in 2028. The patent applications that GRAIL owns, if issued as patents, would be expected to expire at the earliest in 2037.
Research and Development
For the year ended January 2, 2022, the company’s research and development expense included $1,185 million.
Marketing and Distribution
The company markets and distributes its products directly to customers in North America, Europe, Latin America, and the Asia-Pacific region. In addition, the company sells through life-science distributors in certain markets within Europe, the Asia-Pacific region, Latin America, the Middle East, and Africa.
Segments
The company operated through two segments, Core Illumina and GRAIL, as of January 2, 2022.
Core Illumina
Core Illumina’s products and services serve customers in the research, clinical and applied markets, and enable the adoption of a variety of genomic solutions.
GRAIL
GRAIL is a healthcare company focused on early detection of multiple cancers.
Trademarks
24sure, Ampligase, Assign, BaseSpace, BlueBee, BlueFish, BlueFuse, BlueGnome, Clarity LIMS, CSPro, CytoSeq, COVIDSeq, DesignStudio, DRAGEN, Durascript, Enancio SAS, Genetic Energy, GenomeStudio, Globin-Zero, GoldenGate, HiSeq, iSeq, iHope, Illumina, Illumina Propel Certified, IllumiNotes, Infinium, iScan, iSelect, MiniSeq, MiSeq, MiSeqDx, NextBio, Nextera, NextSeq, NovaSeq, Powered by Illumina, Ribo-Zero, SeqMonitor, SureCell, TruGenome, TruSeq, TruSight, Understand Your Genome, UYG, Verifi, Verinata, Verinata Health, VeriSeq, the pumpkin orange color, and the Genetic Energy streaming bases design are trademarks or registered trademarks of the company.
Government Regulation
CLIA mandates that, for high complexity labs, such as its, to operate as a lab, the company must have an accreditation by an organization recognized by CLIA, such as the College of Pathologists (CAP), which it has obtained and must maintain. Certain of the company’s products are available through laboratories that are certified under the Clinical Laboratory Improvements Amendments (CLIA) of 1988. The usually shorter 510(k) clearance process, which the company used for the FDA-cleared assays that are run on its FDA-regulated MiSeqDx instrument, generally takes from three to six months after submission, but it can take significantly longer. The longer premarket approval (PMA) process, which the company used for its FDA-cleared RAS panel that is also run on its MiSeqDx instrument, is typically much more costly and uncertain. In the U.S., the products the company develops for oncology and non-invasive prenatal testing will be regulated by the PMA process.
History
Illumina, Inc. was founded in 1998. The company was incorporated in California in 1998 and reincorporated in Delaware in 2000.
