GAITHERSBURG – GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic insights, announced pioneering scientific contributions that will be presented at the American Society of Human Genetics (ASHG) Annual Meeting.
At ASHG, GeneDx will unveil research findings drawn from GeneDx Infinity, a dataset of nearly one million exomes and genomes and over seven million phenotypic datapoints. GeneDx will showcase 14 pioneering research studies highlighting advancements in genomic newborn screening, neurodevelopmental disorders, diagnostic technologies, and machine learning applications in genomics. This work has been fueled by GeneDx Infinity the largest rare disease dataset and the only resource with the depth and diversity needed to fuel equitable care and research.
Throughout the week at ASHG, GeneDx will be presenting data that showcases advances in the following key areas
Unlocking new discoveries and shortening the diagnostic odyssey with GeneDx Infinity: GeneDx Infinity is driving genomic discovery and diagnostic utility, leveraging large-scale exome and genome sequencing data to identify novel disease-associated genes, enhance gene-disease curation, and improve variant detection for complex conditions like intellectual disability, congenital heart disease, and hearing loss, while also demonstrating high concordance with traditional methods for CNV detection.
AI and machine learning approaches uncovering the genetic basis of rare diseases: GeneDx’s advanced machine learning techniques are accelerating novel gene discovery and streamlining variant classification at scale, enabling accurate and rapid diagnoses and offering new insight into gene-disease associations.
The genetic causes of autism
In a study of over 62,000 individuals affected with autism, researchers highlighted a core set of genes associated with autism and found moderate genetic correlations between autism and schizophrenia, epilepsy, and bipolar disorder.
Delivering earlier diagnoses with genomic newborn screening (gNBS)
Updated results from the GUARDIAN study reports data from 15,000 newborns and demonstrates high enrollment rates, positive parental experiences, and meaningful follow-up outcomes reinforcing the value of gNBS in accelerating time to diagnosis.
Clinical validation for long read sequencing
Long-read sequencing approaches demonstrate strong potential to improve clinical diagnostics, accurately detecting repeat expansions, resolving difficult-to-sequence regions, and benchmarking against short-read pipelines in critically ill newborns, offering foundational data for the potential implementation of long-read platforms in high-throughput clinical laboratories in the future.
About GeneDx
GeneDx (Nasdaq: WGS) is the global leader in rare disease diagnosis, transforming the way medicine is practiced by making genomics the starting point for health, not the last resort. We bring together unmatched clinical expertise, advanced technology, and the power of GeneDx Infinity – the largest rare disease dataset – built over 25 years from millions of genomic tests and deep clinical insights. This unparalleled foundation powers our ExomeDx and GenomeDx tests, giving clinicians the highest likelihood of delivering a timely, accurate diagnosis. GeneDx is shaping the future of healthcare by moving the standard of care from sick care to proactive healthcare. While our roots are in rare disease diagnosis, our commitment extends beyond – growing with the families we serve as a trusted partner at every stage of life.
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 plans to accelerate scientific discoveries and unlock other value in the rare disease space, (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. 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 our Quarterly Reports on Form 10-Q for the fiscal quarters ended March 31, 2025 and June 30, 2025, 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.
Contact:
Email: Investors@GeneDx.com
Email: Press@GeneDx.com