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GeneDx Announces Data Demonstrating that Whole Exome and Genome Sequencing Report Fewer Variants of Uncertain Significance (VUS) than Multi-Gene Panel Testing Published in Genetics in Medicine
STAMFORD, Conn., Aug. 21, 2023 (GLOBE NEWSWIRE) -- GeneDx, a leader in delivering improved health outcomes through genomic and clinical insights, today
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[{"type":"text","content":"STAMFORD, Conn., Aug. 21, 2023 (GLOBE NEWSWIRE) -- GeneDx, a leader in delivering improved health outcomes through genomic and clinical insights, today announced that Genetics in Medicine, the official journal of the American College of Medical Genetics and Genomics (ACMG) has published a peer-reviewed research analysis resulting from a multi-lab collaboration involving GeneDx. The study, “The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change,” evaluated the rate of inconclusive genetic variants, or variants of uncertain significance (VUS), reported with multi-gene panels versus exome and genome sequencing. Study findings concluded that VUS are reported more frequently on multi-gene panels (32.6%) than exome and genome sequencing (22.5%). “The high rates of VUS found with multi-gene panel tests create an unnecessary burden on clinicians and our hospital systems, and as the title of the paper suggests, it’s time for a change,” said Heidi L. Rehm, Ph.D., Professor of Pathology, Massachusetts General Hospital and lead author. “We must examine our current approaches to reduce VUS rates while directing clinician resources towards important VUS follow-up.” The high rate of VUS observed in multi-gene panel testing warrants broader adoption of approaches used in whole exome and genome testing. This is in line with evidenced-based ACMG clinical guidelines, as well as practice guidelines issued by the National Society of Genetic Counselors Society (NSGC) that have also been endorsed by the American Epilepsy Society (AES), which recommend exome or genome testing over chromosomal microarray or multi-gene panels as a first-tier test for individuals with congenital anomalies, developmental delay, intellectual disability, or epilepsy.1, 2 “The results of this study help to address a long-held perception that whole exome and genome sequencing introduce more variants of uncertain significance than multi-gene panels, which may be a barrier to broader adoption,” said Paul Kruszka, M.D., Chief Medical Officer, GeneDx. “These data help reinforce the benefits and value of exome and genome testing to improve diagnosis and to help end the diagnostic odyssey for more families.” Study Design: For this study, 19 clinical laboratories in North America provided deidentified summary data from a two-year period (January 1, 2...