GeneDx Launches Multiscore: AI-Powered Tool for Genetic Analysis

What You Should Know: 

– GeneDx, a leader in delivering improved health outcomes through genomic insights launches Multiscore, an advanced AI-powered decision support tool. 

– Multiscore is designed to revolutionize genetic analysis by improving diagnostic efficiency, streamlining workflows, and enhancing clinical insights.

Advanced Decision Support System Enhances Diagnostic Efficiency 

Embedded into GeneDx’s interpretation platform, Multiscore acts as a decision support tool, helping clinical geneticists focus on the most relevant genes during their clinical analysis. This innovation will be presented at the ACMG (American College of Medical Genetics and Genomics) meeting in a session titled: “Multiscore, a Gene Ranker Powered by Artificial Intelligence and Real-World Clinical Data, Shows High Sensitivity in 10,000 Exomes and Genomes,” which was selected for a limited-spot industry-specific platform session.

Leveraging AI and Extensive Data for Enhanced Gene Ranking

Multiscore utilizes a powerful combination of GeneDx’s industry-leading proprietary dataset, publicly available data, and advanced AI to prioritize genes in exome and genome sequences. This prioritization is based on how well the genes align with a patient’s clinical presentation. By incorporating phenotypic similarities into gene ranking criteria, GeneDx can better serve patients whose symptoms may deviate from textbook descriptions. This approach also facilitates the identification of pathogenic or likely pathogenic diagnoses in complex cases.

Transforming Genetic Analysis with AI

Multiscore’s ability to incorporate phenotypic similarities into gene ranking is particularly significant, as it addresses the challenge of diagnosing patients with atypical symptoms. This AI-driven approach ensures that even complex cases can be analyzed efficiently and accurately.

By leveraging the power of AI and its vast database, GeneDx is empowering clinical geneticists to make more informed decisions, ultimately improving patient outcomes. Multiscore represents a significant advancement in genetic analysis, paving the way for more efficient and effective diagnostic processes.

“GeneDx recognizes the impact of AI to unlock even more potential and opportunity from our genomic data, and its ability to drive efficiencies in workflows, ultimately accelerating the time to diagnosis and enabling genetic diagnoses at scale. Multiscore is just one of the many ways we’re leveraging the power of AI in our workflows,” said Bryan Dechairo, PhD, Chief Operating Officer at GeneDx. “By equipping our clinical geneticists with AI-driven solutions during analysis, we’re not only improving operational performance and scale, we’re also enriching our database even more rapidly. With each test we gain a deeper understanding of disease-gene relationships which also serve as a powerful tool to accelerate the path to treatment for patients.”