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Helix GenoSphere™ Launches MASH-enriched Cohort of over 17,000 Linked Clinico-Genomic Records to Accelerate Drug Discovery and Development

SAN MATEO, Calif., (October X, 2025) – Helix, a leading genomics company is launching a new GenoSphere™ Metabolic Dysfunction-Associated Steatohepatitis (MASH)-enriched cardiometabolic cohort of over 17,000 records. This expansive dataset comprises records of diverse patients with a wide spectrum of liver phenotypes.

The cohort is curated from the largest precision clinical research network, and represents a significant leap forward to advance life sciences research and drug discovery for MASH (and associated cardiometabolic conditions). Pairing longitudinal clinical data with deep Exome+® sequencing can help identify how genetic variations influence the disease risk, progression, and response to therapy. It enables a deeper understanding of MASH and the genetic factors contributing to the disease development and progression.

Approximately 22 million adult Americans are affected by MASH, a severe inflammatory form of metabolic dysfunction-associated steatotic liver disease (MASLD). MASLD itself affects about 25% of the U.S. population, or about 38% of all adults. About 20% of people with MASH will progress to cirrhosis over several years. Outside of liver complications, MASH is highly associated with other metabolic comorbidities such as impaired insulin response, type 2 diabetes, dyslipidemia, hypertriglyceridemia, and hypertension – making early detection and management crucial.

Key features include:

  • Comprehensive Data Collection: Includes demographics, clinical diagnoses, major lab results, past procedures and insights, with the ability to link medical and pharmacy claims as well.
  • Longitudinal Results for 10+ Disease Specific Labs including liver function tests such as Alanine Aminotransferase (ALT) and Aspartate Aminotransferase (AST), liver fibrosis markers, triglycerides, HbA1c, and more.
  • Disease Severity Measurements:
    1. More than 20% of the cohort include patients with Fibrosis-4 (FIB-4) index scores above 2.67 associated with severe fibrosis risk.
    2. Additionally, the AST to Platelet Ratio Index (APRI) score and NAFLD score (NFS) are also calculated to profile liver fibrosis severity
  • Longitudinal EHR Records: An average of >15 years of longitudinal Electronic Health Records (EHR) data to follow the patient journey.

“MASH is a severe medical condition increasingly affecting millions of people worldwide. Through our GenoSphereTM platform, this cohort can give researchers and drug developers 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.”

GenoSphereTM is Helix’s centralized research data ecosystem, built on deep genetic and longitudinal clinical data. It offers a wide range of therapeutic areas, including autoimmune disease, cardiometabolic conditions, neurological conditions and more. These cohorts provide world-class research, solutions, and implementation expertise, offering comprehensive support to life science research and drug development, to enhance research quality and advance precision medicine. For more information about our MASH cohort, please visit the website.

About Helix:

Helix is the leading population genomics and precision health organization. Helix enables health systems, life sciences companies and payers to accelerate the integration of genomic data into patient care and therapeutic development. Learn more at www.helix.com.

About Helix GenoSphere:

GenoSphere is built on the world's most dynamic precision clinical research network, designed to support life science research and optimize therapeutic development. Our data ecosystem combines extensive longitudinal clinical data, cutting-edge Exome+® sequencing from a diverse population, and world-class translational research expertise.

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