GeneDx Launches Online Exome Testing Offering to Expand Access to Genetic Diagnosis for Children
GeneDx , a leader in rare disease diagnosis and genomic data, has announced the launch of a new digital offering designed to make exome testing more accessible to pediatric patients across the United States. The new service is specifically intended to help children with global developmental delay (GDD), intellectual disability (ID), or epilepsy and their families overcome some of the traditional barriers associated with accessing genetic testing and specialized clinical care.
Through the new online experience, eligible families can begin the genetic testing process directly through the GeneDx website. The service connects families with licensed healthcare providers who can review relevant medical information, determine whether testing is clinically appropriate, order exome testing, and provide results through a clinician-guided process. The company says the approach is designed to give families a faster and more convenient route to genomic evaluation while complementing the care provided by pediatricians, neurologists, geneticists, and other specialists.
The launch comes as demand for timely genetic diagnosis continues to grow among children with developmental and neurological conditions. Genetic factors are estimated to contribute to as many as half of cases involving global developmental delay, intellectual disability, and epilepsy, making exome testing an increasingly important tool for identifying the underlying causes of these conditions.
Addressing Delays in Pediatric Genetic Care
For families caring for a child with developmental delay, intellectual disability, or epilepsy, obtaining a definitive diagnosis can be a lengthy and complicated process. Patients may need to navigate referrals, specialist appointments, multiple evaluations, and long waiting periods before receiving appropriate genetic testing.
GeneDx’s new digital offering is intended to reduce some of these barriers by providing eligible families with access to clinician-guided exome testing without requiring them to first secure an in-person appointment with a genetic specialist.
The need for improved access is significant. More than 450,000 children in the United States are living with epilepsy, while more than 1 million children have intellectual disability. For many of these children, identifying a genetic cause can be an important step toward understanding their condition and determining appropriate medical management.
At the same time, access to clinical genetics specialists remains limited in many parts of the country. GeneDx noted that approximately 25% of pediatric patients may wait more than a year for a clinical genetics appointment, while about half wait longer than six months.
For families in areas with limited specialist availability, these delays can create significant challenges. A child may continue undergoing diagnostic evaluations without an underlying cause being identified, potentially delaying disease-specific management or appropriate counseling.
The new GeneDx service is designed to provide another pathway to testing by allowing families to begin the process digitally while maintaining clinical oversight.
Exome Testing as an Important Diagnostic Tool
Exome sequencing examines the protein-coding regions of genes, which contain many of the genetic variants known to contribute to inherited diseases and developmental disorders. For children with GDD, ID, and certain forms of epilepsy, exome testing can help identify genetic changes that may explain their symptoms.
The importance of exome testing in pediatric care has continued to grow as genomic medicine becomes increasingly integrated into clinical practice. In 2025, the American Academy of Pediatrics updated its clinical guidance to recommend exome sequencing as a first-tier testing option for children with global developmental delay or intellectual disability.
Earlier genetic diagnosis can provide benefits beyond simply giving families an explanation for a child’s condition. Identifying an underlying genetic cause may help physicians make more informed treatment and monitoring decisions, reduce the need for repeated or unnecessary diagnostic testing, and improve long-term care planning.
For some families, a genetic diagnosis can also provide information about recurrence risk and help guide discussions about future family planning. In addition, understanding the genetic basis of a condition can help patients and healthcare providers identify opportunities for specialized care or participation in clinical research.
A Digital Approach to Genetic Testing
GeneDx’s new offering uses a simplified digital process to connect families with licensed healthcare professionals. Rather than requiring families to navigate traditional referral pathways before beginning testing, eligible patients can initiate the process online.
Healthcare providers involved in the service can review a child’s medical information and determine whether exome testing is appropriate. If testing is ordered, families can proceed through the diagnostic process while maintaining a connection to their child’s existing healthcare team.
The company emphasizes that the service is intended to complement, rather than replace, a child’s pediatrician, neurologist, geneticist, or other treating specialist.
By integrating clinician oversight into a digital experience, GeneDx aims to combine the convenience of online healthcare access with the medical guidance necessary for genetic testing.
Katherine Stueland, CEO of GeneDx, said that many families continue to experience significant difficulties when trying to obtain answers about a child’s medical condition.
“For too many families, the path to answers is defined by delays, barriers, and a system that isn’t built for the realities they face,” Stueland said. “By making exome testing simpler and easier to access, we can reach more children who need answers and move closer to a healthcare system that delivers on the promise of precision medicine.”
Supporting Earlier Diagnosis
One of the central objectives of the new service is to help shorten the time between a child’s presentation of symptoms and the identification of a possible genetic cause.
Developmental delays and neurological symptoms can have numerous potential causes. Without genetic testing, families may go through a long series of clinical assessments and diagnostic procedures. Genomic testing can provide another avenue for investigating these conditions and, when successful, can establish a molecular diagnosis that may otherwise remain unidentified.
For children with epilepsy, genetic information may also contribute to a more comprehensive understanding of the disease. Epilepsy can have a wide range of causes, and certain genetic diagnoses can provide information relevant to treatment, prognosis, monitoring, and family counseling.
Similarly, for children with intellectual disability or developmental delay, identifying a genetic cause can help families better understand the child’s condition and connect with appropriate resources.
Linda Genen, M.D., M.P.H., Chief Medical Officer of GeneDx, emphasized the importance of removing barriers to timely genetic evaluation.
“Exome testing can provide critical answers for children with developmental delay, intellectual disability and epilepsy, but too many families still face barriers to timely access,” Genen said. “This offering removes friction by creating a clinically guided path to appropriate testing that complements a child’s existing care and helps families get answers sooner.”
Expanding Precision Medicine Access
The launch represents another step in GeneDx’s broader strategy of expanding access to genomic medicine. Historically, advanced genetic testing has often depended on access to specialists, academic medical centers, genetic counselors, or healthcare systems with established genomic testing infrastructure.
Digital healthcare tools have created opportunities to extend these services beyond traditional care settings. GeneDx’s new platform is intended to use this model to reach families who may otherwise have difficulty accessing specialized genetic evaluation.
The company says the service is available to eligible pediatric patients throughout the United States, although access remains subject to provider availability, clinical appropriateness, and applicable state requirements.
This model may be particularly relevant for families living in communities where pediatric genetic specialists are limited or where long travel distances and appointment delays make traditional specialty care difficult to access.
Potential Impact on Pediatric Healthcare
The broader significance of GeneDx’s offering extends beyond convenience. Faster access to genetic testing could help support earlier diagnosis and potentially reduce the prolonged diagnostic journeys experienced by children with rare and complex conditions.
For healthcare providers, integrating genomic information earlier in the diagnostic process may provide additional insight into a child’s condition and support more individualized care strategies. For families, obtaining a diagnosis can provide clarity and help them better understand their child’s medical needs.
As genomic technologies continue to advance, access will become an increasingly important component of precision medicine. Genetic testing is most useful when patients who could benefit from it can actually obtain it in a timely and clinically appropriate manner.
GeneDx’s online exome testing offering seeks to address that challenge by combining digital accessibility with professional clinical oversight. The initiative is aimed at making the pathway to genetic diagnosis more straightforward for families while ensuring that testing remains connected to appropriate medical decision-making.
With the new service now available to eligible pediatric patients across the United States, GeneDx is seeking to broaden the reach of exome testing and help more children with developmental delay, intellectual disability, and epilepsy gain access to genomic evaluation. The company believes that reducing logistical and geographic barriers can help accelerate the search for answers and support the continued integration of precision medicine into pediatric care.
Families and healthcare professionals seeking additional information about eligibility, the testing process, and availability can access GeneDx’s patient resources through its official website.
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. GeneDx Infinity also fuels discovery for biopharma, with the most powerful AI-driven genomic intelligence. 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.