Study Applies GNS’s Causal Machine Learning to G3’s G3LOBAL DatabaseTM
Study Demonstrates Proof of Concept of Approach with Identification of Known Coronary Disease-Associated Pathway
ATLANTA, Ga. and CAMBRIDGE, Mass. – Jan. 8, 2016 – Global Genomics Group (G3), a life sciences company that leverages large-scale genomic and molecular disease profiles to develop life-changing diagnostics and therapeutics, and GNS Healthcare (GNS), a leading precision medicine company that applies causal machine learning technology to match health interventions to individual patients and discover new target intervention pathways, today announced preliminary results of the GLOBAL Clinical Study designed to identify biomarkers associated with coronary artery disease (CAD). The study provided proof of concept of the approach by prospectively identifying a biochemical pathway known to be associated with CAD.
The GLOBAL Clinical Study is the first large-scale study that leverages pan-omic measurements, including whole genome sequencing, whole genome methylation, whole transcriptome sequencing, unbiased proteomics, metabolomics, lipidomics, and lipoprotein proteomics, in a specific clinically-relevant patient population – patients referred for coronary CT angiography for assessment of suspected CAD – with matched normal controls. Subjects from both groups were phenotyped by G3’s advanced, proprietary imaging methods. The companies utilized the patented GNS REFS™ (Reverse Engineering and Forward Simulation) platform, which applies advanced machine learning Bayesian reconstruction algorithms, a form of artificial intelligence that extracts cause and effect mechanisms, to rapidly analyze comprehensive pan-omic measurements in order to learn the causal genetic, molecular, and phenotypic networks driving atherosclerotic CAD. The approach is designed to enable rapid insights and discoveries that otherwise would not have been possible with current technology. The preliminary results reported here are based on trillions of data points analyzed from G3’s G3LOBAL DatabaseTM.
Output from the machine learning technology consists of associations of biomarkers with CAD. GNS’s causal machine learning technology provided validation of the approach by identifying the low-density lipoprotein (LDL) disease pathway as associated with CAD, including mechanisms linked to new treatments, such as those targeting the PCSK9 gene. This pathway, identified by more traditional biochemical and cell biology approaches, is well known to cardiologists and a number of drugs that interact with it are approved for lowering the risk of CAD.
“Our work with GNS demonstrates how big data and causal machine learning can be applied to accelerate discoveries that would otherwise have required many decades to achieve,” says Szilard Voros, MD, CEO and founder of Global Genomics Group. “The integrated approach of next-generation phenotyping, pan-omics, and bioinformatics, plus the revolutionary GNS machine learning technology, are answering an urgent need to solve medical mysteries related to the causes of cardiovascular disease. This technology may be able to identify additional novel therapeutic targets that transcend the LDL cholesterol paradigm.”
The causal, mechanistic computer models may greatly accelerate the pace of discovery. The recapitulation of known LDL biology and discovery of new biology announced today, for instance, were achieved by G3 and GNS in less than a year. In contrast, the original discovery of LDL biology can be traced to a series of discoveries, beginning as early as 1938, accelerating in the 1970s, and earning the Nobel Prize in Physiology or Medicine in 1985 for the identification of the LDL receptor.
“Our ongoing work with G3 has the potential to fundamentally change cardiac care and prevention,” said Iya Khalil, PhD, co-founder and executive vice president of GNS Healthcare. “The discovery of new biomarkers associated with CAD would bring a new level of certainty, precision, and predictive power to a growing global epidemic. This work demonstrates the powerful connection between precision medicine and population health and delivers value for all healthcare stakeholders – pharmaceutical and diagnostics companies, health plans, providers, and patients.”
About the G3LOBAL DatabaseTM
G3’s G3LOBAL DatabaseTM is derived from the GLOBAL clinical study (NCT01738828), an international prospective, multi-center study recruiting up to 10,000 patients to characterize novel disease networks and biomarkers. GLOBAL is the largest and most comprehensive pan-omic study combining whole genome sequencing, whole genome methylation, whole transcriptome sequencing, unbiased proteomics, metabolomics, lipidomics, and lipoprotein proteomics with coronary computed tomographic (CT) angiography, an advanced imaging technology for phenotyping, which allows the precise classification of disease in patients.
About Global Genomics Group (G3)
G3 is a global leader in pan-omics and investigates biological networks that lead to the development of disease to identify novel biomarkers and therapeutic targets. G3 combines precision phenotyping with pan-omics (genomics, epigenomics, transcriptomics, proteomics, metabolomics, lipidomics and lipoprotein proteomics) and systems-biology driven bioinformatics to investigate the development and progression of conditions such as atherosclerosis in cardiovascular disease, diabetes, fatty liver disease, and others.
For additional information, please visit www.globalgenomicsgroup.com
About GNS Healthcare
GNS Healthcare applies causal machine learning technology to predict which treatments will work for which patients, improving individual patient outcomes and the health of populations, while reducing costs. The GNS technology is based on its MeasureBase™ data integration architecture and patented REFS™ (Reverse Engineering and Forward Simulation) causal inference and simulation engine. Health plans, bio-pharmaceutical companies, healthcare providers, foundations, academic medical centers, and employers use these cloud-based solutions to solve pressing and costly problems including preterm birth, end-of-life care, comparative effectiveness, medication non-adherence, metabolic syndrome, diabetes, specialty care medications, drug target discovery, patient stratification in clinical trials, and more. GNS solutions focus on reducing adverse events, slowing disease progression, and improving therapeutic effectiveness through precision matching that maximizes impact on individual patient health outcomes while reducing wasteful spending and downstream medical costs.
GNS Healthcare, Driving Intelligent Interventions
Global Genomics Group (G3)