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HomeHealthWith Epic, GeneDx aims to broaden the potential of rapid whole genome sequencing

With Epic, GeneDx aims to broaden the potential of rapid whole genome sequencing

by News7

GeneDx, a genetic testing and analytics developer, announced this week that it is collaborating with Epic to expand access to its rapid whole genome sequencing services.


The focus is specifically on neonatal intensive care units, the company says. By integrating with the Epic electronic health record, GeneDx aims to connect directly with health systems, helping clinicians more easily receive orders and send results.

Patients can now have rWGS data more seamlessly integrated into their longitudinal medical record, helping providers deliver more personalized treatment plans.

GeneDx says it’s working to broaden the availability of exome and genome testing across patient populations. With regard to neonatal patients, it is participating in SeqFirst, a study at the University of Washington designed to assess how easy access to routine rWGS can improve care for critically ill infants at Seattle Children’s Hospital.

And through its support of the GUARDIAN study – Genomic Uniform-screening Against Rare Diseases In All Newborns – GeneDx is working to improve understanding of genomic screening for healthy newborns not currently included in standard newborn screening.

The company notes that wider adoption of standard WGS at birth can speed time to diagnosis and help prevent or slow progression of rare disease in pediatric patients.


GeneDx says it has seen significant growth in its rapid testing business, with more and more payers appreciative of rWGS. The company notes that 11 states now offer Medicaid coverage, and an increasing number of commercial insurers adopting coverage policies.

Meanwhile, advances in computing power and more enlightened legislation and policy are helping set the stage for advancements in and precision medicine.

And at major health systems, clinicians are innovating how genomics can be integrated into pediatric care. For example, Kansas City-based Children’s Mercy is now able to perform whole-genome sequencing tests in the clinical setting, and plans next to use that data in clinical validation testing at its Genomic Medicine Center.


“Rapid whole genome sequencing is a groundbreaking advancement for neonatal care, especially for critically ill babies in the NICU,” said Dr. Mike Bamshad, head of genetic medicine in the department of pediatrics at the University of Washington and Seattle Children’s Hospital, and principal investigator on SeqFirst.

“The ability to pinpoint genetic conditions early opens the door to improved clinical management, targeted therapies and can lead to improved outcomes for our youngest and most vulnerable patients,” added Bamshad in a statement from GeneDx. “By integrating this technology routinely into patient care, we deliver a faster diagnosis, increasing the potential for timely and effective treatments, and providing families with critical information to better anticipate the needs of their child.”

“As GeneDx continues to drive utilization of its whole exome sequencing in the outpatient setting, [this] announcement affirms our commitment to opening up access to our rWGS services for health system partners, providers, and families who are in need of diagnosing a baby in the NICU,” added Katherine Stueland, president and CEO of GeneDx.

Mike Miliard is executive editor of Healthcare IT News

Email the writer: [email protected]

Healthcare IT News is a HIMSS publication.

Source : Healthcare IT News

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