GeneDx Publishes Pioneering Vision for Applying AI to Genomics to Improve and Expedite Diagnosis of Genetic Disease at Scale

May 22, 2025 at 08:00 AM EDT

Company deploying AI to scale industry-leading rare disease dataset to diagnose growing number of patients with genetic disease, published in the American Journal of Medical Genetics

GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic insights, today announced the publication of a new article in the American Journal of Medical Genetics, demonstrating GeneDx’s leadership in applying artificial intelligence (AI) to accelerate and enhance genetic diagnostics. The article was published as part of an essay collection written by global experts addressing how AI is shaping, and will continue to shape, the future of medical genetics.

The GeneDx-authored article, “AI in the Clinical Genomics Laboratory,” underscores the promise of harnessing AI to increase diagnostic yield, reduce manual workflows, and scale precision medicine for all patients with suspected genetic conditions.

“AI can be a powerful tool to enhance the expertise of clinical genetics professionals,” said Tim Laurent, Director of AI at GeneDx. “From extracting phenotypic data from clinical notes to prioritizing genetic variants, we’re building intelligent, transparent systems that work hand-in-hand with our expert team of geneticists to accelerate diagnosis while ensuring accuracy.”

With one of the world’s most comprehensive and clinically curated genomic and phenotypic datasets, GeneDx has a durable strategic advantage in training and deploying AI models for diagnostics. This depth of data enables faster, more accurate diagnoses, and builds on a foundation of agile AI infrastructure, which allows GeneDx to drive transformational scale and efficiency across an already differentiated interpretation and analysis platform.

As the cost of genomic sequencing continues to decline and guidelines increasingly recommend exome and genome sequencing as standard of care, the volume of patients eligible for testing is expected to outpace the capacity of the current genetics workforce. GeneDx is strategically leveraging its unique dataset and cutting-edge AI technologies to close that gap.

“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 – from clinical interpretation to lab operations – to meet the growing demand for genomic testing and deliver answers at scale.”

The publication comes on the heels of GeneDx’s acquisition of Fabric Genomics, a leader in AI interpretation. Together, GeneDx and Fabric Genomics are ushering in the next era of genomic medicine, enabling decentralized testing powered by centralized intelligence to set the standard of care across the globe.

About GeneDx:

At GeneDx (Nasdaq: WGS), we believe that everyone deserves personalized, targeted medical care—and that it all begins with a genetic diagnosis. Fueled by one of the world’s largest, rare disease data sets, our industry-leading exome and genome tests translate complex genomic data into clinical answers that unlock personalized health plans, accelerate drug discovery, and improve health system efficiencies. For more information, please visit genedx.com and connect with us on LinkedIn, Facebook, and Instagram.

Forward Looking Statements

This press release may contain “forward-looking statements” within the meaning of Section 21E of the Securities Exchange Act of 1934, as amended, and the U.S. Private Securities Litigation Reform Act of 1995. These forward-looking statements generally are identified by the words “believe,” “project,” “expect,” “anticipate,” “estimate,” “intend,” “strategy,” “future,” “opportunity,” “plan,” “may,” “should,” “will,” “would,” “will be,” “will continue,” “will likely result,” and similar expressions. Forward-looking statements are predictions, projections and other statements about future events that are based on current expectations and assumptions and, as a result, are subject to risks and uncertainties. Many factors could cause actual future events to differ materially from the forward-looking statements in this press release, including but not limited to: (i) our ability to implement business combinations, plans, goals and forecasts, and identify and realize additional opportunities, (ii) the risk of downturns and a changing regulatory landscape in the highly competitive healthcare industry, (iii) the size and growth of the market in which we operate, (iv) our ability to pursue our new strategic direction, and (v) our ability to enhance our artificial intelligence tools that we use in our clinical interpretation platform. The foregoing list of factors is not exhaustive. A further list and description of risks, uncertainties and other matters can be found in the “Risk Factors” section of our Annual Report on Form 10-K for the fiscal year ended December 31, 2024, and other documents filed by us from time to time with the SEC. These filings identify and address other important risks and uncertainties that could cause actual events and results to differ materially from those contained in the forward-looking statements. Forward-looking statements speak only as of the date they are made. Readers are cautioned not to put undue reliance on forward-looking statements, and we assume no obligation and do not intend to update or revise these forward-looking statements, whether as a result of new information, future events, or otherwise. We do not give any assurance that we will achieve our expectations.

View source version on businesswire.com: https://www.businesswire.com/news/home/20250522822022/en/

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GeneDx Publishes Pioneering Vision for Applying AI to Genomics to Improve and Expedite Diagnosis of Genetic Disease at Scale

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