New Research From Gaithersburg’s GeneDx Illustrates the Benefits of Rapid Whole Genome Sequencing for Critically Ill Infants

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, is a global leader in genomics headquartered in Gaithersburg, providing testing to patients and their families worldwide. Originally founded by scientists from the National Institutes of Health, GeneDx offers a world-renowned clinical genomics program with particular expertise in rare and ultra-rare genetic disorders.

Last week, GeneDx 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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17th Annual Kensington Day of the Book Festival

Now in its 17th year, the Kensington Day of the Book Festival is a family-friendly street festival featuring 150+ renowned authors, poets, and literary organizations. Enjoy live music on five stages, special guest speakers, military veteran writers and comedians, poetry readings, cookbook demos, children's program, and much more.

Admission is free, and attendees will also be able to explore a marketplace of books and food offerings from local vendors.

Not your average book festival! This festival offers something for everyone!

17th Annual Kensington Day of the Book Festival

Sunday, April 21, 2024, 11am-4pm (held rain or shine!)

Howard Avenue, Kensington, MD 20895

Instagram: @kensingtonbookfestival

Contact: Elisenda Sola-Sole, Festival Director

[email protected]

301-949-9416 (text preferred)

FEST OF SPRING Caribbean Wine Food & Music Festival

Get ready to experience the vibrant colors, tantalizing flavors, and infectious rhythms of the Caribbean at the FEST OF SPRING Caribbean Wine Food & Music Festival! Hosted by RHU LLC, this exciting festival is set to take place on May 18, 2024, at the picturesque 16700 Barnesville Rd in Boyds, MD.

Step into a world where the Caribbean spirit comes alive! From 12:00 PM onwards, immerse yourself in a sensory journey that celebrates the unique culture, cuisine, and music of the Caribbean. Whether you're an African American, a Reggae or Soca music enthusiast, a wine lover, or part of the vibrant Caribbean diaspora, this festival promises to delight and captivate you in every way.

Let the enticing aromas of mouthwatering Caribbean dishes tantalize your taste buds. Feast on traditional delicacies prepared by expert chefs, showcasing the rich and diverse culinary heritage of the Caribbean. Indulge in flavorful jerk chicken, succulent seafood, and delectable plantain dishes that will transport you straight to the islands.

Accompanying the culinary extravaganza is a carefully curated selection of premium wines, ensuring the perfect pairing for your palate. Sip on fine wines from renowned vineyards, each sip a reflection of the Caribbean's vibrant spirit. Discover new flavors, expand your wine knowledge, and savor unforgettable moments with every glass.

As the sun sets, get ready to groove to the infectious rhythms of Caribbean music. Feel the pulsating beats of reggae, soca, dancehall, and calypso, moving your body to the lively melodies. Live performances by talented musicians and performers will keep the energy high, ensuring a night of unforgettable entertainment.

Don't miss this opportunity to embrace the Caribbean spirit and celebrate the arrival of spring in style! Tickets are available on AllEvents, so secure your spot today. Join us at the FEST OF SPRING Caribbean Wine Food & Music Festival, where cultures collide and unforgettable memories are made.



2 NIGHT Camping packages available: RV/CAMPER $200 | TENTS $150 Starting on Friday May 17 @ 5pm | 30 RV SPACES | 30+ TENT SPACES



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