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Illumina is striking a vein
SAN DIEGO—Will a customized chip called IBC help pinpoint genetic links to vascular disease? Illumina Inc., is providing its iSelect Infinium Custom Genotyping BeadChip to a growing consortium of researchers who hope the collaboration's large scale will generate information valuable to discovery science.
The name "IBC" recognizes consortium leaders: I for Institute of Translational Medicine and Therapeutics (ITMAT) at the University of Pennsylvania, B for the Broad Institute of MIT and Harvard, and C for the Candidate-gene Association Resource (CARe) Consortium, supported by the National Heart, Lung, and Blood Institute of the National Institutes of Health.
The consortium examined a variety of technology platforms for about a year before choosing Illumina. "We made our choice based on track record of reliability, flexibility—the ability to add on genes—and price," says Garret FitzGerald, ITMAT's director. The IBC chip, FitzGerald believes, is particularly relevant to this study because of its density of SNP coverage. Chip content includes CYPs, drug metabolizing enzymes, and genes whose variants may influence drug response to cardiovascular disease. FitzGerald says the most common cardiovascular diseases—high blood pressure, heart attack, and heart failure—are most represented.
IBC will analyze over 55,000 SNPs in more than 2,1
00 genes selected for cardiovascular and other phenotypes. The goal of analyzing 120,000 samples from population studies and clinical trials is rapidly expanding, according to FitzGerald. "This reflects the buy in from the academic investigators whom we have contacted and who have bought into the program. This consortium continues to grow."
IBC's content came together through the efforts of Brendan Keating, a postdoc in FitzGerald's lab. Stacey Gabriel, director of the genetic analysis platform at the Broad Institute, who also works under a CARe grant, says Keating identified genes and built a database, then collaborated on SNP selection with Joel Hirschhorn, associate member, and coordinator of metabolism initiative at the Broad.Although some targeted panels with SNPs haven't been successful because they lacked certain genes, Gabriel sees value in this project, which she says is unique in scale and specificity. "This is a very large panel, and a lot went into curating the list," she says, adding that relevant genes identified later can be added to a second-generation chip. She notes that IBC's deep SNP coverage also incorporates blood and sleeping disorders.
IBC's appeal to researchers is clear. "The idea," says FitzGerald, "is that everyone who enrolls can use the resource for their own studies—to pursue their own discovery science." Many of the studies enlisted are randomized trials of drug effects providing phenotypic information on drug efficacy and adverse effects, says FitzGerald. "In some situations, we will be able to look across these studies at drugs which are distinct members of the same class," he says.
At Illumina, Carsten Rosenow, senior marketing manager, DNA analysis, says the IBC chip underlines Illumina's dedication to working with academic researchers and validating a technology released in 2006. "I think for one, it clearly shows the importance of our iSelect program and the customizable subcontent, and this emphasizes the flexibility of our Infinium assay," says Rosenow. The project is one of the largest ever undertaken with iSelect.
Illumina expects the collaboration will last several years. "We are essentially in design process," says Rosenow, with a goal of commercializing IBC by year end.