Expanded Use of Rapid Whole Genome Sequencing for Critically Ill Babies in Orange County

Collaboration between two Southern California Children’s Hospitals Aimed at Advancing Precision Medicine

San Diego – June 20, 2017 – In the first outreach beyond San Diego County, Rady Children’s Institute for Genomic Medicine (RCIGM) has signed an agreement with CHOC Children’s (CHOC) to provide rapid whole genome sequencing and bioinformatics analysis to help critically ill infants in neonatal and pediatric intensive care units (NICU/PICUs) enrolled in collaborative RCIGM-CHOC research.

RCIGM and CHOC share a strong interest in clinical innovation and research collaboration that enhance patient care, decrease health care costs and further the scientific understanding of both rare and common complex genetic diseases in children. The initial collaboration between RCIGM and CHOC is expected to result in data and discoveries to improve the whole genome sequencing (WGS) process and to establish the clinical utility of WGS for the early diagnosis and treatment of acutely ill infants and children.
“This is the beginning of our long- term vision to improve the lives of acutely ill babies by extending rapid whole genome sequencing (WGS) to NICUs and PICUs nationwide,” says president and CEO of RCIGM, Stephen Kingsmore, MD, DSc. “Our goal is that more children can be helped by the power of WGS, and we can prove its clinical utility so ultimately all who need it may have access.”

Since July 2016, RCIGM has performed rapid whole genome sequencing for over 100 families with acutely ill children enrolled in its research studies. As a result, approximately
40 percent have received a genomic diagnosis with 80 percent of those benefitting from an immediate change in clinical care.

Under the collaboration, CHOC will send biological sample materials to RCIGM’s clinical genome center in San Diego where rapid whole genome sequencing, bioinformatics analysis and clinical interpretation will take place. The results will be reported back to physicians at CHOC who will partner with the RCIGM team to incorporate genomic findings into the clinical care of patients in CHOC’s NICU and PICU.

“Our collaboration with Rady Children’s Institute for Genomic Medicine provides us the opportunity to expand our current research efforts,” says Kimberly Chavalas Cripe, president and CEO of CHOC. “The impressive turnaround of results by the Rady Children’s team is expected to save lives by decreasing the time between an acute diagnosis and the implementation of effective treatment for difficult cases in our neonatal and pediatric intensive care units. We are excited about partnering with RCIGM to bring advances in molecular medicine to the bedside of some of our most vulnerable patients.”

About Rady Children’s Institute for Genomic Medicine:
The Institute is leading the way in advancing precision healthcare for infants and children through genomic and systems medicine research. Discoveries at the Institute are enabling rapid diagnosis and targeted treatment of critically ill newborns and pediatric patients at Rady Children’s Hospital-San Diego. The vision is to expand delivery of this integrated translational research process to enable the practice of precision pediatric medicine at children’s hospitals across California, the nation and the world. RCIGM is a subsidiary of Rady Children’s Hospital and Health Center. Learn more at www.RadyGenomics.org.

About Rady Children’s Hospital-San Diego:
Rady Children’s Hospital-San Diego is a 551-bed pediatric care facility providing the largest source of comprehensive pediatric medical services in San Diego, Southern Riverside and Imperial counties. Rady Children’s is the only hospital in the San Diego area dedicated exclusively to pediatric healthcare and is the region’s only designated pediatric trauma center. In June 2016, U.S. News & World Report ranked Rady Children’s among the best children’s hospitals in the nation in nine pediatric specialties. Rady Children’s is a nonprofit organization that relies on donations to support its mission. For more information, visit www.rchsd.org and find us on Facebook, Twitter and Vimeo.

Media Contact:
Grace Sevilla
858-966-1710 (o) 619- 855-5135 (c)
gsevilla@rchsd.org