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Illumina Providing Genomic Analysis for Precision Medicine

Genetic testing illustration

(National Institute of General Medical Sciences, NIH)

1 February 2016. Illumina Inc., a developer of genetic systems, is analyzing genomic data at four medical centers to integrate with patients’ electric health records for precision medicine. The San Diego company’s analytical services are expected to sequence and characterize the genomes of more than 200,000 individuals in the U.S. and Canada.

Medical centers taking part in the initiative are Vanderbilt University in Nashville, University of Colorado in Denver, Partners HealthCare in Boston, and Montreal Heart Institute in Quebec, Canada. Vanderbilt is providing 100,000 patients for the project, with the other medical centers offering between 25,000 and 50,000 participants.

The medical centers plan to use the data to discover underlying genetic factors contributing to heart disease, cancer, Alzheimer’s disease, bipolar disorder, and Crohn’s disease, among others. Each facility has a biobank, where specimen samples are collected and will be analyzed by Illumina. Each medical center also uses electronic records for storing patients’ clinical data as well as the genomic analyses.

Illumina will conduct its analysis with genotyping systems that the company says identify mutations and variations quickly. The company also expects to offer methylation sequencing, useful for identifying epigenetic factors, those outside the genome that influence gene expression.

Vanderbilt University, providing about half of the samples, will add the Illumina analyses to its BioVu collection of de-identified blood samples offered by patients with their consent. The university says it has some 150 research studies underway making use of BioVu. Nancy Cox, director of Vanderbilt’s Genetic Institute, says in an Illumina statement that BioVu “is at the core of a vision that will combine genome variation, biomarker data, patient electronic medical record information and pharmacogenomic data to advance personalized medicine.”

Montreal Heart Institute, offering about a quarter of the samples, will use Illumina’s multi-ethnic genotyping services to identify genetic predictors of responses to drugs for treating cardiac and metabolic disorders. A part of those samples, says the institute, will also be included in a study following a group of patients over time who took part in an earlier clinical trial.

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