GeneDx Publishes Groundbreaking AI Strategy to Accelerate Genetic Disease Diagnosis

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Bryan Dechairo

Gaithersburg, Md. — GeneDx (Nasdaq: WGS), a leader in genomic diagnostics, has published a forward-looking article in the American Journal of Medical Genetics, outlining its pioneering approach to integrating artificial intelligence (AI) into clinical genomics. The publication reinforces GeneDx’s vision for using AI to improve the speed and accuracy of diagnosing rare and genetic diseases at scale.

Titled “AI in the Clinical Genomics Laboratory,” the article is part of a broader essay series by global experts exploring how AI is transforming medical genetics. GeneDx’s contribution details how the company is leveraging its robust, clinically curated genomic and phenotypic dataset—the largest of its kind—to train and deploy AI systems that complement the work of clinical genetics professionals.

“AI can be a powerful tool to enhance the expertise of clinical genetics professionals,” said Tim Laurent, Director of AI at GeneDx. “We’re building intelligent, transparent systems that help extract data from clinical notes and prioritize genetic variants, allowing our team to diagnose patients faster and more accurately.”

GeneDx’s strategy is built on a foundation of agile AI infrastructure, allowing it to automate traditionally time-consuming tasks in variant interpretation and genomic analysis. As genetic testing becomes more common—spurred by falling sequencing costs and expanding clinical guidelines—GeneDx aims to scale its capabilities to meet rising demand while addressing the limited supply of trained genetics professionals.

“AI is not just a tool for efficiency and streamlining operations, it’s an engine for discovery,” said Bryan Dechairo, Chief Operating Officer at GeneDx. “Because AI is only as powerful as the data it’s trained on, GeneDx is uniquely positioned to embed AI across our business to deliver faster diagnoses and better outcomes for more patients.”

The publication follows GeneDx’s recent acquisition of Fabric Genomics, a leader in AI-based genomic interpretation. The merger combines two industry pioneers in genomic intelligence and marks a significant step toward decentralizing genetic testing while centralizing analytic power—what GeneDx calls “centralized intelligence.” The goal is to set a new global standard for delivering timely and accurate diagnoses for patients with suspected genetic conditions.

By pairing advanced AI with an unmatched dataset, GeneDx is building a scalable platform that not only addresses current challenges in clinical genomics but also positions the company at the forefront of next-generation precision medicine.

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