GeneDx to Showcase Advancements in Gene-Disease Discovery, Long-Read Sequencing and More at National Society of Genetic Counselors (NSGC) 2025 Annual Meeting
Powered by GeneDx Infinity™ with unparalleled scale and diversity, GeneDx fuels breakthrough scientific research and delivers the most precise rare disease diagnosis for patients and families
GeneDx (NASDAQ:WGS), a leader in delivering improved health outcomes through genomic insights, today announced it will unveil research findings during four key sessions at the 2025 National Society of Genetic Counselors (NSGC) Annual Meeting.
"GeneDx is at the forefront of genomic discovery, accelerating gene-disease insights, advancing long-read sequencing, and improving access so more families can reach answers sooner," said Britt Johnson, PhD, FACMG, SVP of Medical Affairs at GeneDx. "Powered by the scale and diversity of GeneDx Infinity™ and the deep expertise of our team, we are pioneering innovations that elevate diagnostic accuracy, deepen scientific understanding, and bring the full potential of precision medicine to patients and families around the world."
At NSGC, GeneDx will showcase innovation and clinical breakthroughs powered by GeneDx Infinity™, the largest rare disease dataset. The company will highlight Infinity's role in identifying novel gene-disease discoveries, which enable GeneDx to offer clear answers for clinicians and earlier, more accurate diagnoses for patients and families. Additionally, GeneDx is showcasing how data generated from genomic testing drives progress and impact across the healthcare ecosystem, from patients and advocacy groups to clinical laboratories to biopharma companies and beyond. GeneDx will also highlight data supporting the potential of long read sequencing and work being done on reimbursement and access.
GeneDx's presence at NSGC underscores the company's commitment to advancing precision medicine through innovation, scale and real-world evidence, while empowering genetic counselors with tools and insights that transform patient care. With 1000+ scientific publications and counting, GeneDx is generating crucial data that demonstrate that exome and genome testing is the standard of care. The GeneDx team is exhibiting at booth #600, educating genetic counselors about the leading GeneDx ExomeDx™ and GenomeDx™ tests, as well as the scientific presentations listed below.
Shaping equitable access and reimbursement
Let's make a deal: Working together to navigate coverage, billing and coding whammies – Friday, November 7, 2-3:15pm, Ballroom 6ABC
Sarah Soto, MC, CGC, Head of Payor Evidence Strategy at GeneDx, will join industry payer and clinical policy experts to discuss the evolving reimbursement landscape for genetic testing and opportunities for genetic counselors to help shape more equitable access. This session will provide practical policy insight for the genetic counselor community.
Scaling trusted clinical interpretation with systematic gene-disease curation
The clinical impact of a framework for validating gene-disease associations in a high-throughput clinical laboratory – Saturday, November 8, 2-3:00pm, Genomic Session, Location 608-610
Maria Guillen Sacoto, MD, FACMG, Scientific Director, Research and Innovation, will share new results from the company's gene-disease association curation framework, which applies ClinGen guidelines and real-world data to deliver high-throughput, real-time validation. To date, GeneDx has curated more than 9,000 gene-disease associations, enabling more confident interpretation and supporting earlier, more accurate diagnoses for families impacted by rare disease.
Advancing clinical impact with long read sequencing
Evaluating the performance of HiFi long-read sequencing in real-world clinical samples – Saturday, November 8, 2-3:00pm, Genomic Session, Location 608-610
Flavia Facio, MS, CGC, Medical Affairs Director, Platform Technologies, will present new data demonstrating the performance of high-fidelity long read genome sequencing in clinical practice. In a real-world cohort, long read sequencing identified nearly all technically challenging variants without requiring complementary assays, and enabled phasing in singleton samples. The findings reinforce the potential of long read technology to improve speed and accuracy of genetic diagnosis, particularly for individuals with rare disease.
The ripple effect of genomic data
The Ripple Effect of Genomics Data: Driving Positive Impact with Purpose – Sunday, November 9, 12:30-1:45pm, Location 611-614
During GeneDx's session, available for 1.25 continuing education contact hours, leaders from GeneDx, patient advocacy, HEOR and industry partners will share real-world examples of how large-scale genomic data accelerates variant interpretation, supports drug development, informs health economic research and expands access to timely diagnosis.
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. For more information, 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 continue to advance gene-disease discovery and long-read sequencing , (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.
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