Early data from landmark study shows rapid whole genome sequencing (rWGS) provided diagnostic insights for more than half of newborns who received testing; one-third had no previously documented clinical suspicion of a genetic condition
GeneDx, LLC, a leader in genomic analysis, today announced new research in collaboration with the University of Washington, Seattle Children’s and the Brotman-Baty Institute during the American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting which demonstrates the utility of rapid whole genome sequencing (rWGS) to diagnose critically ill infants in the neonatal intensive care unit.
The data is part of SeqFirst, a study at the University of Washington examining the impact on care of broad access to routine whole genome sequencing in critically ill infants at Seattle Children’s Hospital. Results showed that rapid whole genome sequencing provided a potential, partial or full diagnosis for 53% of newborns tested. Moreover, of those infants who received a diagnosis through whole genome sequencing, 30% had no previously-documented suspicion of a genetic condition, highlighting the limitations of strategies that rely on family history or clinical indicators to qualify for genetic testing. The impact of the genetic information was profound, leading to a change of management for 93% of these patients.
In addition to improving diagnosis, the SeqFirst data also suggested that making whole genome sequencing routine for critically ill patients in the NICU could help overcomes disparities in access to testing. Notably, 67% of patients in whom a genetic condition was not considered prior to testing identified as non-White.
“Our study shows how impactful routine use of whole genome sequencing can be in the neonatal ICU,” said Mike Bamshad, M.D., SeqFirst principal investigator and professor and chief of genetic medicine in the department of pediatrics at the University of Washington and Seattle Children’s Hospital. “Whole genome sequencing is the most advanced type of genetic testing and our study offers clear insight on the benefit of using it early in the diagnostic process to help families of children with health conditions find a precise genetic diagnosis, better anticipate their child’s needs and take advantage of new treatments.”
The SeqFirst study was established at the University of Washington with the goal of making whole genome sequencing more accessible. SeqFirst is one of several projects focused on access to testing in the NICU and for use in diagnosing developmental delays in outpatient settings.
“The data is clear – rapid whole genome sequencing can provide critical diagnostic insights and much-needed answers for infants in the NICU,” said Paul Kruszka, M.D., chief medical officer at GeneDx. “Whole genome sequencing is vastly underutilized in the NICU, despite the clear support for its utility in getting to a diagnosis quickly. Genetic disorders are a leading cause of morbidity and mortality in infants and very often every minute counts. Our hope is that by understanding the benefits of sequencing, we may be able to intervene earlier and pursue clinical approaches that improve outcomes.”
GeneDx performs exome sequencing for infants enrolled in the SeqFirst study. GeneDx has played a pivotal role in pediatric disease diagnosis for hundreds of thousands of patients. With a database of more than 300,000 clinical exomes and corresponding clinical information, GeneDx is a key driver in understanding gene-disease relationships.
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