working with perlegen
Perlegen partners with a variety of organizations to deliver high-value genetic tests to healthcare providers, patients and payers.
Print this pageFrom DNA to diagnosis
Next-generation technologies and millions of patient records improve the chances for high-quality data and meaningful clinical results.Genetic intelligence for treatment decisions
Our mission is to apply the world’s most advanced genetics technologies to the improvement of human healthcare on an entirely new scale. Our vision is to enable physicians to treat patients more reliably and safely by matching genetic signatures to existing medications and to actionable disease risks. This approach could also improve the likelihood of success for clinical trials and potentially lead to breakthrough therapies by focusing studies on patients who are most likely to benefit from a particular treatment. The implications are enormous for clinical development, discovery research, marketing, reimbursement, and the practice of medicine itself.
Translating genetic information into action
Each of our programs is designed to provide physicians and patients with reliable, accurate, and medically actionable results.
A high-throughput engine for discovery and validation
The first step to realizing our vision was to establish technology capable of reading DNA faster and less expensively than any then-existing approach. From 2000 to 2003, starting with high-density microarray technology originally developed at Affymetrix, Perlegen’s scientists began working on significantly larger and denser chip formats, combining this massively-parallel technology with novel approaches to DNA sample preparation, optical scanning and computational analysis. The result was a system that could read single nucleotide polymorphism (SNP) genotypes in DNA over 100 times faster and cheaper than the capillary-gel electrophoresis technology used by the Human Genome Project to sequence the first copy of the human genome. Currently, we are extending this work by using next-generation sequencing technology to catalog nearly all genetic variations—not just SNP genotypes—associated with a particular clinical situation.
A critical path through a complex world
One copy of the human genome does not provide the information needed to determine how genetic differences impact health. Therefore, at Perlegen, we’ve used our technology to “re-sequence” not just one but dozens of human genomes, in order to identify and catalog the basic genetic variations commonly present throughout the human population. The most common form of genetic variation, a single nucleotide polymorphism (SNP), occurs in roughly one in every 1,000 bases of the human genome. By identifying where these SNPs are located, Perlegen can analyze them in large case and control populations in order to quickly hone in on the precise locations of common genetic variations that give rise to specific phenotypic traits.