Company Description
GeneDx Holdings Corp. (Nasdaq: WGS), also referred to as GeneDx, is described as the global leader in rare disease diagnosis, with a mission to empower people to live their healthiest lives through genomics. The company focuses on delivering improved health outcomes through genomic insights, positioning genomics as a starting point for health rather than a last resort in care.
GeneDx operates in the professional, scientific, and technical services sector, within research and development in the physical, engineering, and life sciences (except biotechnology). According to multiple company descriptions, GeneDx brings together clinical expertise, advanced technology, and the power of GeneDx Infinity™, which it characterizes as the world’s largest rare disease genomic dataset. This dataset is built on more than 25 years of real-world clinical experience and millions of genomic tests, enriched with deep phenotypic data across diverse populations.
Core focus on rare disease genomics
The company states that it is the global leader in rare disease diagnosis and rare disease genomics. GeneDx emphasizes diagnosis of rare genetic diseases across newborn, pediatric, and broader rare disease populations. Over its history, it reports diagnosing more than 4,800 genetic diseases and publishing more than 1,000 peer‑reviewed research publications, contributing to gene–disease discovery and clinical practice in genomic medicine.
GeneDx highlights that its research and medical affairs programs are powered by GeneDx Infinity and that it has supported over 1,100 peer‑reviewed studies. These publications include practice‑shaping work in genomic newborn screening, rapid genome sequencing in neonatal intensive care settings, and gene–disease association studies. The company reports curating thousands of gene–disease associations and contributing to hundreds of newly validated associations, which it positions as supporting earlier and more accurate diagnoses for families affected by rare disease.
GeneDx Infinity™ and AI‑driven insights
GeneDx Infinity™ is described as the foundation of the company’s genomic insights. GeneDx characterizes Infinity as the world’s largest rare disease genomic dataset, built from exome and genome sequencing enriched for rare disease and phenotypic data. The company states that Infinity powers what it calls the “#1 genomic test for rare disease” and that it uses continuously learning artificial intelligence and clinical interpretation to sharpen diagnoses and expand insight with each patient.
GeneDx describes Infinity as enabling precise diagnosis, faster discovery, stronger evidence generation, and precision genomic medicine. The company also notes that Infinity fuels discovery for biopharmaceutical companies by providing AI‑driven genomic intelligence and supporting use cases in real‑world evidence generation, health economics and outcomes research, and research and development.
ExomeDx™ and GenomeDx™ tests
The company’s descriptions repeatedly reference ExomeDx™ and GenomeDx™ as key genomic tests. GeneDx states that these tests are ranked #1 by expert geneticists and have been granted FDA Breakthrough Device designation for use in association with causes of life‑threatening diseases or genetic disorders to aid in diagnosis of symptomatic patients. The company positions these tests as enabling clinicians to deliver precise, fast, and actionable diagnoses, and as providing a high likelihood of timely, accurate diagnosis for patients with suspected genetic conditions.
GeneDx indicates that ExomeDx and GenomeDx are used across multiple clinical settings, including newborn, pediatric, and rare disease care. The company also highlights rapid genome sequencing offerings for neonatal and pediatric patients in intensive care settings, emphasizing accelerated turnaround times for genomic insights when clinical decisions are time‑sensitive.
Genomic newborn screening and pediatric focus
GeneDx describes a significant focus on genomic newborn screening (gNBS) and pediatric genomics. It reports participation in large‑scale programs such as the GUARDIAN study (Genomic Uniform‑screening Against Rare Disease In All Newborns), which uses whole genome sequencing to screen newborns for genetic conditions not included in standard newborn screening. The company notes that GUARDIAN has screened tens of thousands of newborns and has been recognized in a Journal of the American Medical Association Research of the Year roundup, underscoring the impact of genomic newborn screening in identifying serious, actionable childhood conditions.
The company also reports participation in the BEACONS multi‑state genomic newborn screening initiative and collaboration with the Sunshine Genetics Network on a state‑backed genomic newborn screening program. GeneDx emphasizes that these programs are designed to support earlier diagnosis, guide clinical management, and generate evidence for integrating genomic sequencing into public health newborn screening.
Prenatal and pediatric care expansion
GeneDx states that it has expanded into prenatal diagnostics with GenomeDx Prenatal™, a whole genome sequencing test intended for pregnancies with fetal anomalies identified via ultrasound. The company describes this test as phenotype‑informed and trio‑based, designed to deliver clear, reliable genomic answers with rapid turnaround times. According to the company, GenomeDx Prenatal builds on more than a decade of prenatal diagnostics experience, including extensive prenatal exome testing.
In pediatrics, GeneDx highlights efforts to expand genomic testing into general pediatrics and to support updated guidance from professional organizations recommending exome and genome sequencing as first‑tier tests for certain developmental indications. The company emphasizes its goal of making earlier genomic diagnosis the norm across pediatric care settings.
Partnerships and data integration
GeneDx reports strategic partnerships that extend the reach and utility of its genomic data. A notable example is its partnership with Komodo Health, through which GeneDx Infinity is combined with Komodo’s Healthcare Map, a dataset describing healthcare journeys of de‑identified patients. The company states that this integration is intended to create a comprehensive longitudinal dataset for rare disease, linking genomic and phenotypic insights with real‑world care patterns, utilization, and outcomes.
Through such collaborations, GeneDx indicates that its data can support use cases in health economics and outcomes research, research and development, clinical trial design and feasibility, market access, and AI and advanced analytics. The company notes that these activities are conducted using de‑identified, privacy‑preserving methodologies to protect patient confidentiality.
Research, clinical leadership, and education
The company highlights an active presence in scientific and medical forums, including presentations at major conferences such as the American Society of Human Genetics and the National Society of Genetic Counselors Annual Meeting. GeneDx reports presenting data on topics such as AI and machine learning in rare disease diagnosis, long‑read sequencing performance in clinical samples, gene–disease association curation frameworks, genomic newborn screening outcomes, and the genetic architecture of conditions such as autism.
GeneDx also notes that it engages with pediatricians, genetic counselors, and other clinicians to discuss reimbursement, access to genomic testing, and evolving standards of care. The company positions itself as working with payers, policymakers, and health systems to expand coverage and access to exome and genome sequencing, including Medicaid coverage in multiple states.
Corporate and regulatory context
GeneDx Holdings Corp. is incorporated in Delaware and its Class A common stock trades on The Nasdaq Stock Market under the symbol WGS. The company also has warrants to purchase Class A common stock that trade under the symbol WGSWW, as disclosed in its filings. Recent current reports on Form 8‑K describe matters such as financial results, guidance, and board appointments, indicating ongoing public company reporting under U.S. securities laws.
According to its own descriptions, GeneDx characterizes itself as a genomics pioneer over more than 25 years, with a focus on rare disease diagnosis, genomic newborn screening, and the use of large‑scale genomic and phenotypic data to inform precision medicine. Its stated aim is to move healthcare toward a genome‑first model, using exome and genome sequencing as foundational tools for diagnosis and lifelong precision health.