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Illumina - Large-Scale Gene Sequencing

How SBIR Helped Illumina Launch Large-Scale Gene Sequencing

Biomedical researchers at Illumina are developing next-generation tools to analyze genetic variation and function on a massive scale. The company’s instruments process data from human genome sequencing and turn it into medically relevant information for use in the study of genetics, disease detection, drug response, and more.


SBIR Impact

This 7,300-person company with more than $3.3 billion in annual revenue, whose instruments for genome sequencing helped launch household names like 23andMe and Ancestry, was once an enterprising startup building on technology developed at Tufts University in Boston. Shortly after the company’s founding in 1998, Illumina landed the first of what would eventually be 14 grants awarded by NCI’s SBIR program. The grant supported development and testing of a system for parallel processing of sensor arrays for analysis of biological samples. Later grants focused on developing a high-throughput methylation profiling system capable of analyzing hundreds to thousands of samples per day and generating more than a million genotypes per instrument per day, with applications including cancer classification and diagnosis, as well as identification of anti-cancer drugs.

The fledgling company quickly attracted venture capital during its first year, and later received additional rounds before going public, so SBIR was never the primary source of research funding. However, according to founder, Dr. Mark Chee, SBIR provided capital for projects that otherwise wouldn’t have been funded in the normal course of business. These projects turned out to be critical to the development of Illumina’s core product lines, including its genotyping system, pyro-sequencing project, and gene expression profiling.


Illumina Today

The company now has operations in 11 countries and serves customers working in oncology, reproductive health, genetic disease, molecular and cell biology, and agriculture. It is a global leader in DNA sequencing and microarray-based solutions, and its technology is responsible for generating more than 90% of the world’s sequencing data. As reported by the National Research Council in An Assessment of the SBIR Program at the National Institutes of Health, “The real importance of SBIR at Illumina was that it provided flexibility in pursuing projects outside the mainstream of immediate research objectives. As such, it provided a key counterbalance to the tendency to overfocus, which is perhaps inevitable in a small company. At Illumina, SBIR definitely promoted a more diverse approach to R&D.”1

And, the authors concluded, “The additional opportunities provided by SBIR almost all paid off in commercially successful, revenue-generating products.”

Learn more on Illumina's website.


Selected Reference
  1. National Research Council 2009. An Assessment of the SBIR Program at the National Institutes of Health. Washington, DC: The National Academies Press.

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