Ann Arbor, MI - April 1, 2025 – Genomenon, a leading provider of genomic intelligence, today announced the launch of its Real-World Evidence for Precision Therapeutics solution. This innovative offering leverages the company’s AI powered knowledge graph, Genomenon's Genomic Graph (G3) , to extract real-world data (RWD) from scientific literature, which is then curated by a team of over 100 expert scientists into actionable real-world evidence (RWE) datasets. Unlike traditional methods that rely on electronic health records, Genomenon's RWE approach unlocks the vast repository of published research, capturing billions of dollars' worth of insights into rare disease and cancer patient presentations, clinical journeys, treatments, and outcomes. This comprehensive dataset empowers precision therapeutics developers with critical insights to optimize clinical trial design, enhance diagnostic patient yield, and streamline regulatory submissions.
Rare Diseases pose significant challenges for precision therapeutics due to the scarcity and complexity of available patient data. Traditional sources often fall short of capturing the necessary depth of genetic and clinical insights. Genomenon's Real-World Evidence for Precision Therapeutics solution bridges this gap by leveraging the company’s AI to mine over 10 million full-text scientific articles and 3 million supplementary data files to characterize patient data by its team of scientific experts. This comprehensive approach transforms previously inaccessible data into actionable insights, enabling refined disease-prevalence estimates, genotype-phenotype correlation discovery, and clarifying patient demographics and treatment outcomes.
“By harnessing the power of G3 applied to the broad corpus of clinical literature curated by our scientific team, we can provide an unparalleled depth of real-world evidence," said Dr. Mark Kiel, Chief Scientific Officer and co-founder of Genomenon. "Our approach not only addresses the critical need for comprehensive and accurate data but also empowers precision therapeutic developers to make informed decisions that can significantly improve clinical trial outcomes. The uniqueness of our solution lies in its ability to unlock insights from the vast and often untapped resource of published literature, which is essential for advancing rare disease and cancer therapies."
Genomenon’s unique approach of combining its AI-driven process to extract RWD from the literature and organize the data into RWE with its team of scientists who analyze and interpret the data is already making an impact in the industry.
Catherine Nester, Senior Vice President HCP and Patient Engagement at Inozyme Pharma explained, "Genomenon's innovative approach to leveraging literature for real-world evidence significantly enhanced our understanding of ENPP1 Deficiency. The data they extracted and the evidence they gathered, along with prevalence calculations from global experts, resulted in a change in the estimated genetic prevalence from 1 in 200,000 to 1 in 64,000. This critical insight not only deepened our knowledge of the disease landscape but also informed our strategic investment decisions, underscoring the power of real-world data in shaping market strategies for rare diseases."
Genomenon's Real-World Evidence for Precision Therapeutics scales across thousands of rare diseases and cancers, driving innovation and improving outcomes for patients worldwide. For more information on how Genomenon's Real World Evidence for Precision Therapeutics can support your initiatives, please contact us at hello@genomenon.com.
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Media Contact
Colleen McMillen
Genomenon is a leading genomic intelligence company transforming patient care by uncovering the genomic drivers of genetic disease and cancer. By combining the power of AI built on the world’s premier genomic data set with genomic expertise, the company simplifies complex genetic data into actionable insights. Genomenon's integrated software, data, and services solutions empower clients with advanced patient diagnosis and precision medicine development.