Helix, a leading genomics company, has officially announced the launch of a new GenoSphere™ cardiometabolic cohort for Metabolic Dysfunction-Associated Steatohepatitis (MASH), which includes more than 17,000 participants.
According to certain reports, this expansive dataset houses, at launch, records of diverse patients with a wide-ranging liver and cardiometabolic phenotypes.
To understand the significance of such a development, we must take into account how well over 22 million adult Americans, at the moment, are suffering from MASH, which happens to be a severe inflammatory form of metabolic dysfunction-associated steatotic liver disease (MASLD). This translates to more than 25% of the U.S. population, or about 38% of all adults.
In case that wasn’t enough, 20% of people with MASH are projected to progress to cirrhosis. Outside of liver complications, MASH is also highly associated with other metabolic comorbidities, such as impaired insulin response, type 2 diabetes, dyslipidemia, hypertriglyceridemia, and hypertension, factors that make early detection and management crucial.
Against that, Helix has conceived North America’s largest precision clinical research network to advance life sciences research and drug discovery for MASH (and associated cardiometabolic conditions). More on the same would reveal how this cohort combines longitudinal clinical data with deep Exome+® sequencing to identify how genetic variations influence the disease risk, progression, and response to therapy.
The stated cohort also facilitates a deeper understanding of MASH/MASLD and the genetic factors contributing to the disease’s development and progression.
Talk about the whole value proposition on a slightly deeper level, we begin from the promise of comprehensive data collection, including demographics, clinical diagnoses, major lab results, past procedures and insights. Complementing that would be an ability to link medical and pharmacy claims as well.
Next up, the cohort provides results for more than 10 disease specific labs. These results include liver function tests such as Alanine Aminotransferase (ALT) and Aspartate Aminotransferase (AST), liver fibrosis markers, triglycerides, HbA1c, and more.
Another detail worth a mention is rooted in the availability of disease severity measurements that unlock access to clinical severity scores, spanning Fibrosis-4 (FIB-4), AST to Platelet Ratio Index (APRI) Score, and NAFLD Score (NFS) calculated for all patients. For better understanding, 90% of MASH-linked records boast a FIB-4 score above 2.67, indicating severe fibrosis risk.
Rounding up highlights would be the prospect of accessing longitudinal EHR records. In essence, participants have, at launch, an average of 15 years of Electronic Health Record (EHR) history.
GenoSphere™, Helix’s centralized research data ecosystem, arrives on the scene bearing deep genetic and longitudinal clinical data so to offer a wide range of therapeutic areas, including autoimmune disease, cardiometabolic conditions, neurological conditions, and more. These focal points, on their part, bring forth world-class research, solutions, and implementation expertise, all for the purpose of providing comprehensive support to life science research and drug development, eventually enhancing research quality and advance precision medicine.
“MASH is a severe medical condition increasingly affecting millions of people worldwide. Through our GenoSphereTM platform, researchers and drug developers can identify key insights needed to create more effective and targeted treatments,” said James Lu, M.D., Ph.D., CEO of Helix. “Fueled by the largest precision health network in North America, Helix is in a unique position to help accelerate discoveries that could make a substantial difference for patients affected by this serious liver condition.”
