GeneDx’s GUARDIAN Study Reveals Promise of Whole Genome Sequencing for Newborns
Recent findings published in the Journal of the American Medical Association (JAMA) underscore the limitations of traditional newborn screening methods while highlighting the potential of advanced genomic technology to enhance equitable healthcare for children. GeneDx (Nasdaq: WGS), a leader in improving health outcomes through genomic insights, has announced significant research from the GUARDIAN (Genomic Uniform-screening Against Rare Diseases In All Newborns) study—the largest of its kind to assess the benefits of whole genome sequencing (WGS) for identifying 255 early-onset genetic conditions in newborns from diverse populations. This ongoing collaboration involves GeneDx, Columbia University Irving Medical Center, NewYork-Presbyterian, the New York State Department of Health, and Illumina. The study aims to enroll 100,000 newborns to evaluate the effects of genome-based screening alongside the standard newborn screening (NBS), which currently detects about 60 conditions.
The JAMA article, titled “Expanded newborn screening using genome sequencing for early actionable conditions,” discusses the feasibility and outcomes of integrating genomic sequencing into routine newborn care. The findings advocate for broader genetic disorder detection, facilitating earlier treatment and improving the likelihood of healthy outcomes for all children from birth.
Key Findings from the GUARDIAN Study
- Increased Screening Efficacy: Over 11 months, 4,000 newborns were enrolled, with 3.7% receiving positive screenings—most of which would have been missed by traditional NBS. Among the 120 newborns with confirmed diagnoses, 92% were found to have conditions not included in standard NBS.
- Conditions Detected: The study examined 255 early-onset genetic conditions, including 156 with established treatments and an additional 99 neurodevelopmental disorders that could benefit from early interventions. Some of the critical genetic conditions detected included:
- Long QT syndrome: A rare heart condition linked to Sudden Infant Death Syndrome (SIDS), treatable with beta-blockers.
- Severe combined immunodeficiencies: Managed through stem cell transplants or gene therapy, with milder variants often overlooked in traditional NBS.
- Wilson disease: Manageable through liver transplants, early zinc supplementation, and a low-copper diet.
- Family Engagement: The study demonstrated strong acceptance of advanced NBS, with 72% of families consenting to participate. Of those, 90.6% opted to include screenings for neurodevelopmental disorders, indicating significant interest in expanding beyond traditional NBS.
Benefits of Early Genetic Diagnosis
Diagnosing rare genetic conditions can often take five years or more, with pediatric patients undergoing an average of five inconclusive tests and incurring approximately $10,000 in healthcare costs before reaching a diagnosis. An early genetic diagnosis can significantly benefit families and health systems by improving medical management, reducing unnecessary interventions, and facilitating timely treatment. Moreover, it allows families to access essential resources and support, alleviating burdens and enhancing outcomes for affected children.
Paul Kruszka, MD, FACMG, Chief Medical Officer at GeneDx, emphasized the transformative potential of scalable genomic technology, stating, “GUARDIAN is proof of principle that we can apply medicine’s most advanced technology in an accurate, actionable, and responsible way to ensure that more children have access to early diagnosis to prevent disease progression.”
The GUARDIAN study has garnered increasing support from advocates for rare genetic diseases, parents, and public health professionals, calling for expanded NBS to facilitate timely access to new and precise therapies. The study’s panel has now expanded to cover 446 genes and over 460 conditions, including those associated with epilepsy, such as developmental and epileptic encephalopathy, Dravet syndrome, Rett syndrome, Angelman syndrome, and Duchenne muscular dystrophy.
Next Steps
Currently, over 13,000 newborns have been enrolled in the ongoing GUARDIAN study, which is open to all infants born at NewYork-Presbyterian hospitals in New York City. As researchers continue to gather evidence on the impact of WGS in newborn screening, they are committed to ensuring equitable access to testing and follow-up care. According to Swaroop Aradhya, PhD, Vice President for Medical and Clinical Affairs at Illumina, “Studies such as GUARDIAN provide strong evidence that whole genome sequencing of newborns can enable timely access to rare disease therapies and support resources for parents and caregivers.”
For more information on GeneDx and the GUARDIAN study, visit GeneDx’s website.
About GeneDx:
GeneDx (Nasdaq: WGS) delivers personalized and actionable health insights to inform diagnosis, direct treatment, and improve drug discovery. The company is uniquely positioned to accelerate the use of genomic and large-scale clinical information to enable precision medicine as the standard of care. GeneDx is at the forefront of transforming healthcare through its industry-leading exome and genome testing and interpretation services, fueled by the world’s largest, rare disease data sets. For more information, please visit www.genedx.com and connect with us on LinkedIn, Facebook, and Instagram.
About GUARDIAN
GUARDIAN (Genomic Uniform-screening Against Rare Diseases In All Newborns) is a research study conducted at Columbia University in collaboration with NewYork-Presbyterian, the New York State Department of Health, and Illumina, using whole genome sequencing (WGS) provided by GeneDx to screen 100,000 newborns for more than 250 genetic conditions not currently included in standard newborn screening. The goals of the study are to drive earlier diagnosis and treatment to improve the health of the babies who participate, generate evidence to support the expansion of newborn screening through genomic sequencing, and characterize the prevalence and natural history of rare genetic conditions.
