GeneDx Announces Progress on GUARDIAN Study and Promise of Early Genomic Testing to End Rare Disease “Diagnostic Odyssey”

GeneDx, a leader in delivering improved health outcomes through genomic and clinical insights, fueled by one of the world’s largest, rare disease data sets, today announced it is continuing to support whole genome sequencing (WGS) and interpretation services for the GUARDIAN (Genomic Uniform-screening Against Rare Diseases In All Newborns) study, a research study recently launched by Columbia University using WGS to screen 100,000 newborns for more than 250 genetic conditions not currently included in standard newborn screening. Initial data from this study were presented at the ACMG Annual Meeting during the R. Rodney Howell Symposium, Setting the Stage for Genomic Sequencing of All Newborns, on Saturday, March 18, 2023.

As presented by Wendy Chung, M.D., Ph.D., a clinical and molecular geneticist, the Kennedy Family Professor of Pediatrics in Medicine and Chief of Clinical Genetics at Columbia University, and principal investigator for the study, of the 1,000 newborns enrolled to date, true positive screening outcomes were present in 2.6 percent of newborns. This included 15 confirmed cases with G6PD deficiency, a genetic disorder not integrated with standard newborn screening. G6PD deficiency is a result of decreased function in an enzyme called G6PD (glucose-6-phosphate dehydrogenase) and causes a breakdown of red blood cells in response to infections, certain drugs, foods, or stress, and is a risk for severe neonatal hyperbilirubinemia.

Additionally, reportable sequence variants from 238 genes screened in the GUARDIAN study were included in a retrospective analysis performed by GeneDx. For almost 25,000 individuals with positive exome or genome sequencing, more than 20% of individuals could have identified their genetic disease, on average, 7 to 11 years sooner had they received genome sequencing at birth.

“GUARDIAN is quickly teaching us a lot about how to implement genome sequencing in newborns,” said Paul Kruszka, M.D., Chief Medical Officer of GeneDx. “GeneDx is committed to delivering genetic testing services that end the extensive periods of time it can take for a patient to receive a diagnosis for their condition, commonly referred to as the diagnostic odyssey. We hope studies like the GUARDIAN study are launched across the U.S. to give more families access to this type of informative testing.”

For patients, early diagnosis means doctors and health systems can consider available interventions and therapies more quickly, often leading to improved quality-of-life. Additionally, early diagnosis has financial implications, including saving, on average, $30,000 per case due to reduced hospital stays and unnecessary or ineffective care for patients in the newborn intensive care unit (NICU)¹. Further, as more patients are diagnosed with a rare disease, clinical trials can be established that help to more quickly develop therapies that can treat, or perhaps cure, rare diseases.

“The GUARDIAN study has the potential to transform children’s health by equitably diagnosing babies early in life at a time when treatment is most effective,” said Dr. Wendy Chung. “Through this study, we are learning how to move genomic medicine forward at scale for the next generation.”

“Rarely in medicine is there such a monumental shift in how we deliver patient care. Genomic sequencing can and should be ubiquitous in NICU settings and is poised to become a standard for newborn screening,” said Katherine Stueland, President and CEO of GeneDx. “These data reinforce the power of genomic sequencing and the need to expand this more broadly. Had WGS been available at birth, we expect patients, and their families would avoid a diagnostic odyssey including years of inconclusive tests, thousands of dollars in medical expenses and the emotional toll that comes with seeking a diagnosis.”