New GUARDIAN data demonstrates strong parent participation, consistent sequencing performance across diverse ancestries and actionable insights for newborns and families

Data from BRIDGES-NBS shows an expert-informed approach to broadening the number of actionable conditions appropriate for gNBS

Company Website: https://genedx.com
GAITHERSBURG, Md. -- (Business Wire)

GeneDx (Nasdaq: WGS), the leader in rare disease diagnosis and improving health through the power of genomic data, today announced new findings to be presented at the International Consortium on Newborn Sequencing (ICoNS), October 7-8 in Boston, demonstrating progress toward making genomic newborn screening (gNBS) a scalable and accessible part of proactive healthcare.

As a sequencing and interpretation partner behind leading gNBS programs, including the Genomic Uniform-screening Against Rare Diseases In All Newborns (GUARDIAN) study and the NIH-funded BRIDGES-NBS program, GeneDx is helping build the evidence needed to move from research toward broader clinical implementation. GeneDx is also among the first industry partners supporting Florida’s Sunshine Genetics program, providing strategic and operational guidance.

New findings from GUARDIAN, which has now enrolled 30,000 newborns, demonstrate the feasibility and clinical impact of gNBS:

• Strong parent participation: 72.3% of families approached chose to enroll, demonstrating strong uptake of gNBS.
• Comparable screen-positive rates across genetic ancestries: 76% of participating newborns represent non-European genetic ancestry. Excluding glucose-6-phosphate dehydrogenase (G6PD) deficiency cases, screen-positive rates were relatively consistent across genetic ancestries.
• Complementary to standard newborn screening: Genomic screening identified conditions missed by standard approaches due to atypical presentations or the absence of biochemical biomarkers, including hearing loss in infants who passed their initial newborn hearing screen. Standard screening also identified select cases missed by genomic screening, reinforcing the complementary value of both approaches.
• Actionable insights beyond traditional screening: gNBS can identify serious, treatable conditions lacking traditional newborn screening biomarkers, including Long QT syndrome, a cardiac conduction disorder associated with life-threatening arrhythmias. Among infants diagnosed with Long QT syndrome through GUARDIAN, eight have initiated beta-blocker therapy and all are avoiding medications known to prolong QT intervals. Cascade testing also identified risk among family members, leading six parents and one older sibling to begin preventive beta-blocker treatment.

BRIDGES-NBS, the first U.S. nationwide initiative to assess the feasibility of recruitment, processing and disclosure within existing state newborn screening programs, will also highlight progress. BRIDGES is an NIH-funded collaboration led by investigators from Mass General Brigham, Ariadne Labs and Harvard Medical School, Boston Children’s Hospital, Albert Einstein College of Medicine, Children’s Hospital at Montefiore, Case Western Reserve University School of Medicine, Baylor College of Medicine, and the Association of Public Health Laboratories (APHL), in collaboration with GeneDx, Illumina, and additional academic, public health, and community partners.

BRIDGES will begin enrolling this month with a panel of 746 genes for 777 genetic conditions that are treatable in the first year of life and expand across eight states and territories to build the evidence needed to inform broader implementation.

“Genomic newborn screening shows what becomes possible when we move healthcare upstream, identifying risk and acting before a child becomes sick,” said Linda Genen, MD, MPH, Chief Medical Officer at GeneDx. “These findings demonstrate the potential to bring genomics into screening at scale, across diverse populations and alongside existing public health systems. This is how we move from reacting to disease to anticipating it, intervening earlier and changing the trajectory of a child’s life.”

GeneDx collaborated on the following projects that will be presented at ICoNS:

• Genomic Newborn Screening Across Diverse Genetic Ancestries: GUARDIAN Screen-Positive Rates and Variant Findings Among >19,000 Newborns – Presentation
• Outcomes and Impact of the GUARDIAN Genomic Newborn Screening Study – Presentation
• Result Interpretation for Autosomal Recessive Conditions Identified by the GUARDIAN Expanded Genomic Newborn Screening Study – Poster & Lightning Talk
• Results of Assessment of Infants with Long QT Syndrome Identified by the GUARDIAN Genomic Newborn Screening Study – Poster & Lightning Talk
• Genetically-driven Immune Disease Genes in BRIDGES Multi-State Genomic Newborn Screening – Poster & Lightning Talk
• Gene List Development for the BRIDGES-NBS Study: The First U.S. Multi-State Genomic Newborn Screening Initiative — Poster & Lightning Talk
• Accelerating DNA-based Newborn Screening for Menkes Disease – Poster

About GeneDx

GeneDx’s (Nasdaq: WGS) mission is to empower everyone to live their healthiest life through genomics. GeneDx combines unmatched clinical expertise, advanced technology, and the power of GeneDx Infinity^™ – the world’s largest rare disease genomic dataset. This unparalleled foundation powers GeneDx’s ExomeDx^™ and GenomeDx^® tests – ranked #1 by expert geneticists and granted FDA Breakthrough Device designation – enabling clinicians to deliver precise, fast, and actionable diagnoses. A genomics pioneer over the last 25 years, diagnosing more than 4,800 genetic diseases and publishing more than 1,000 research publications, GeneDx is building the network that will drive the future of genomic precision medicine. 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 advance gene-disease discovery, (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, and (iv) future expansion of insurance coverage for exome and genome testing. 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, 2025 and our Quarterly Report on Form 10-Q for the fiscal quarter ended March 31, 2026, filed with the SEC on May 4, 2026, our Quarterly Report on Form 10-Q for the fiscal quarter ended June 30, 2026, filed with the SEC on August 3, 2026 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/20261007662968/en/

Contacts:

Investors@GeneDx.com
Press@GeneDx.com

Source: GeneDx