GeneDx's GUARDIAN Study Honored By JAMA For Demonstrating Genomic Newborn Screening Can Detect Serious Childhood Conditions Missed By Traditional Methods

Prestigious recognition underscores the impact of large-scale genomic screening in identifying serious childhood genetic conditions in conjunction with traditional newborn screening

GeneDx (NASDAQ:WGS), a leader in delivering improved health outcomes through genomic insights, today announced that the GUARDIAN (Genomic Uniform-screening Against Rare Disease In All Newborns) study has been recognized as part of JAMA's annual Research of the Year Roundup. This highly selective honor is reserved for the most impactful scientific contributions published across all JAMA journals.

The recognition highlights the significance of GUARDIAN's peer-reviewed findings, which demonstrate the power of genomic newborn screening to identify serious, actionable childhood conditions more broadly than traditional newborn screening (NBS).

The published analysis from the first 4,000 newborns enrolled in GUARDIAN showed:

• A 72% parental consent rate, demonstrating strong family interest in genomic screening
• A 3.7% screen-positive rate
• 92% of screen-positive newborns had a confirmed diagnosis for a condition not included in traditional NBS

Conditions identified through the study include long QT syndrome, a rare cardiac condition associated with sudden infant death syndrome (SIDS) that can be effectively managed with beta-blockers; Wilson disease, which can be treated with a liver transplant or managed through early zinc supplementation and a low-copper diet;1 and severe combined immunodeficiency (SCID), which can be treated with stem cell transplantation or gene therapy.2 While SCID is included in traditional newborn screening, some variants can be missed. In each case, early diagnosis enables timely intervention and meaningfully improves clinical outcomes.