GeneDx to Present Data at the 2024 American College of Medical Genetics (ACMG) Annual Meeting Demonstrating Clinical Superiority of its Exome, Paving the Way for the Future of Genomics

STAMFORD, Conn., March 14, 2024 (GLOBE NEWSWIRE) -- GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic insights, today announced its scientific contributions at the 2024 American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting. Across one platform presentation, an industry symposium and six poster presentations, including one selected as a “Rapid Fire Poster Session,” an invitation-only presentation of the top 20 ACMG posters, GeneDx continues to demonstrate its industry leadership in shaping the future landscape of genomics.

One of the GeneDx poster sessions includes data demonstrating the ability of exome sequencing to detect small copy number variants (CNVs) below the reporting threshold of chromosomal microarray (CMA) and the detection of CNVs at nearly 99% concordance with CMA. These findings represent improved data quality from pipeline and platform improvements. Combined with its ability to identify many other types of variants compared to CMA and its nearly three times higher diagnostic yield,^1,2,3 these findings demonstrate the clinical superiority of an exome over CMA. These data support the current clinical guidelines recommending exome as a first-tier test and represent GeneDx’s groundbreaking approach to genomic data analysis and interpretation, aimed at eliminating the need for additional tests when ordering exome first.

In its platform presentation, GeneDx will highlight its newly developed statistical approach for predicting the impact of many missense variants with a precision of 99%. This proof-of-concept research has the potential to decrease the variants of unknown significance (VUS) rate and drive greater operational efficiency and diagnostic precision by decreasing the number of variants requiring additional vetting.

In addition to its technological and scientific advancements, GeneDx is committed to democratizing access to genomic testing by eliminating barriers and unlocking the bottlenecks of care. Through an industry-sponsored session, GeneDx will explore the gap between the availability of the medical genetics workforce and the genetic testing needs of pediatric patients. This session features a discussion comparing viewpoints and opportunities around non-geneticists ordering genomic sequencing as part of routine care, with the goal of improving patient outcomes.