RICHMOND, Va.—Global Genomics Group (G3) and Illumina Inc. have announced the establishment of a partnership for the investigation of novel biomarkers and biological pathways associated with the development and diagnosis of cardiovascular disease. The partnership will be centered around the Genetic Loci and the Burden of Atherosclerotic Lesions (GLOBAL) clinical study, and per the terms of the agreement, Illumina will conduct whole-genome sequencing (WGS) while G3 will be responsible for enrolling patients, collecting samples, imaging and imaging analysis.
“Consistent with Illumina’s strategy of partnering with clinical thought leaders, we are excited to expand our footprint in cardiovascular genomics with G3,” Matt Posard, senior vice president and general manager of Illumina’s Translational and Consumer Genomics business, said in a press release. “The GLOBAL study will be one of the largest patient studies involving genomic sequencing and will be the largest pan-omic WGS study Illumina has participated in to date. The sequencing data will be a critical component in deciphering the complexities of the development and diagnosis of atherosclerosis.”
GLOBAL reportedly represents the largest pan-omic study, uniting genomics, epigenomics, transcriptomics, proteomics, metabolomics, lipidomics, lipoprotein proteomics and glycomics with coronary computed tomographic (CT) angiography, an advanced imaging technology used in phentoyping for exact disease classification in patients. The international, multicenter study seeks to characterize novel disease networks and biomarkers for coronary artery disease. G3 is funding the study, which is being conducted together with strategic partner Health Diagnostic Laboratory. Participating patients will undergo coronary CT angiography to enable an accurate examination of their disease and disease status, which will be combined with pan-omic analysis and systems biology-based bioinformatics technology to identify biomarkers as well as potential therapeutic targets.
Dr. Szilard Voros, CEO and co-founder of G3, says this initiative is “anchored in three pillars: next-generation phenotyping, a pan-omic approach and systems biology-driven bioinformatics.”
“The development and progression of conditions such as cardiovascular disease involve poorly understood complex biological processes that require comprehensive investigative approaches to identify new disease biomarkers and therapeutic targets,” continues Voros. “This is the first study of its kind, analyzing trillions of data points from 7,000 patients, designed to investigate the biological basis behind the complex processes responsible for atherosclerosis. We are applying the most advanced coronary CT angiography techniques to precisely phenotype atherosclerotic disease, while conducting a complete pan-omic analysis in every patient. WGS is a centerpiece of this landmark study, and this collaboration with Illumina and its most advanced next-generation sequencing technology is essential to the success of the program. To date, we have collected more than 2,200 samples, and we anticipate completing enrollment by summer of 2014.”
Voros says the GLOBAL study is currently progressing ahead of schedule. The study had 1,000 patients enrolled by the end of June, with about 2,700 in mid-October before this issue went to press. Voros says their milestone is to reach 3,000 patients by the end of the year, and they are on track to reach 4,000 patients by December. The goal is to have enrollment complete by summer 2014, with 7,500 patients in Phase I of the study, and to have the blood-based analyses done four to five months later.
“From our perspective, the strength of the project is that it isn’t only a whole-genome sequencing study—we’re also doing all other ‘omics with it,” says Voros, noting that while whole-genome sequencing alone might not be enough to answer all the questions, this pan-omics approach allows them to connect the dots.
“The GLOBAL study will involve the collection of 22 trillion data points used to decode the complex biology underlying atherosclerotic disease,” Tonya Mallory, CEO, president and co-founder of Health Diagnostic Laboratory, commented in a statement. “The study will represent validation of this technology and opens the door to similar analyses of other diseases, such as oncologic, neurodegenerative and psychiatric, with the goal of identifying novel biomarkers and therapeutic targets for diagnosis, prevention and treatment of these serious and debilitating diseases.”
Pipeline options are limited for this subset of the cardiovascular field. Voros notes that there are approximately 215 therapeutic agents in development in the broad category of cardiovascular disease, and of those, only around 20 are indicated specifically for at-risk atherosclerotic disease and 17 for ischemic heart disease.