Skip to main content
Premium Trial:

Request an Annual Quote

Illumina, Genomas Partner to Develop Panel of SNPs for Metabolic Syndrome


Taking its first step out of the incubator, startup Genomas this week announced a partnership with Illumina to co-develop SNP- and haplotype-based gene marker panels for metabolic syndrome — the group of conditions associated with cardiovascular disease.

Genomas, a four-person startup founded last September by Genaissance Pharmaceuticals founder Gualberto Ruano and based out of Hartford Hospital in Hartford, Conn., centers its business model around a concept Ruano calls physicogenomics. “Physicogenomics is an attempt to utilize physiological pathways and physical measures to guide the development of predictive models of response,” that the body has to exercise, diet, drugs, or other complex phenomena, Ruano told Pharmacogenomics Reporter. “This requires de facto that you sample for variability in hundreds of genes related to those pathways at the same time.”

Under the collaboration, Genomas will use Illumina’s Beadstation 500GX SNP genotyping systems to identify potential diagnostic markers and Illumina has the rights to commercialize any panel of markers the two develop for metabolic syndrome.

Not only is this Genomas’ debut, it is also a major step into a new direction for Illumina, which has until now focused solely on selling its genotyping products and services (see related story, p. 1).

“It’s really the first diagnostic-oriented deal,” said Jay Flatley, Illumina’s CEO. “We have had some [collaborations] where we got rights to use the content we developed but not the discoveries that came out of the study. This is the first where we really have rights to the discoveries, [or] a portion of the discoveries that happen in the study.” Flatley added that the company would “probably” sign additional deals like it in the future.

“If you look forward a few years, we think one of the real large opportunities is going to be the use of biomarkers in clinical and diagnostic settings,” he said, whether these biomarkers are expression patterns, SNP markers, or protein markers. “And we think creating products with that [type of content] is going to be a big market opportunity going forward. So we are exploring more and more the ability to get back certain diagnostic rights to markers that get discovered by potential customers that use our system.” Deals with companies, he said, could include ones in which rights are shared, with the company retaining therapeutic or medical use of the discoveries, and Illumina obtaining diagnostic rights.

In this collaboration, Genomas will look at 1,500 SNPs in pathways related to cholesterol and lipoproteins, insulin and the metabolism of glucose, and inflammation, Ruano said.

These pathways are all implicated in metabolic syndrome, which is characterized by obesity in the abdominal area, blood fat disorders such as high triglycerides and low HDL cholesterol, high blood pressure, insulin resistance or glucose intolerance, a prothrombic state including high fibrinogen or plasminogen activator inhibitor, and a proinflammatory state, such as elevated high-sensitivity C-reactive protein in the blood, according to the American Heart Association.

“Our interest here is prevention. We are trying to use the technology to find out what is the best way to prevent the progression of metabolic syndrome to diabetes,” said Ruano. “For you, it may be a low-carb diet and endurance exercise. For me it may be weight lifting and a low-fat diet. The question is, ‘what do we do for you? What is the best plan for you?’” This way of personalizing patients’ preventative prescriptions based on genomic data is what Genomas calls a PhysioType. The company’s market for this PhysioType technology will be doctors, said Ruano. But the initial market, he said, is “what Illumina does” — provide tools for research, which in this case is research on metabolic syndrome.

This research market, said Ruano, is likely not only to include academics doing work on metabolic syndrome, but also pharma companies conducting clinical research in this area. “There are several drug companies now beginning to work on different aspects of treatment for metabolic syndrome — different kinds of drugs and combinations.” These companies, he said, “may desire to use this panel for their clinical studies on their pipeline.”

In the short term, Genomas has a collaboration with researchers at the University of Connecticut to do genomic analysis on samples, in studies related to diet and genotype. He said the company plans to release more information on this collaboration in the near future.



Filed under

The Scan

New Study Investigates Genomics of Fanconi Anemia Repair Pathway in Cancer

A Rockefeller University team reports in Nature that FA repair deficiency leads to structural variants that can contribute to genomic instability.

Study Reveals Potential Sex-Specific Role for Noncoding RNA in Depression

A long, noncoding RNA called FEDORA appears to be a sex-specific regulator of major depressive disorder, affecting more women, researchers report in Science Advances.

New mRNA Vaccines Offer Hope for Fighting Malaria

A George Washington University-led team has developed mRNA vaccines for malaria that appear to provide protection in mice, as they report in NPJ Vaccines.

Unique Germline Variants Found Among Black Prostate Cancer Patients

Through an exome sequencing study appearing in JCO Precision Oncology, researchers have found unique pathogenic or likely pathogenic variants within a cohort of Black prostate cancer patients.