November 2017

Clinical Grade Rapid Whole Genome Sequencing Now Offered at Rady Children’s Institute for Genomic Medicine

San Diego – November 17, 2017 – Rady Children’s Institute for Genomic Medicine (RCIGM) is now licensed and certified to perform clinical grade diagnostic testing to decode the DNA of babies and children with rare genetic disorders.

Rapid whole genome sequencing (rWGS) is being deployed under clinical research studies being conducted by scientists at the Institute’s Clinical Genome Center. Receiving the Clinical Grade certification allows RCIGM scientists to rapidly sequence, interpret and deliver the results directly to doctors to speed diagnosis and targeted medical treatment.

“Our laboratory processes are engineered to reveal disease-causing gene variations in as little as three days, compared with the weeks required to obtain results with traditional testing methods,” said Shimul Chowdhury, Director of the Clinical Genome Center. “Speed is especially important for those newborns who are struggling to survive.”

RCIGM has pioneered the use of rWGS in newborns. Currently, rWGS is being offered only to patients receiving intensive care at Rady Children’s Hospital-San Diego and patients at children’s hospitals participating in RCIGM’s research studies.

In 2015, Stephen Kingsmore, the founder and president of the Institute, achieved the Guinness World Record for the fastest genetic diagnosis via rapid Whole Genome Sequencing in just 26 hours.

RCIGM’s Clinical Genome Center became one of the few laboratories in the country licensed and certified to perform clinical-grade whole exome and whole genome sequencing following stringent review and inspections from multiple agencies.

“The team at Rady Children’s Institute Clinical Genome Center demonstrates leadership, innovation, and a passionate commitment to standards of excellence while providing the highest quality services for patients,” said Bharati Jhaveri, M.D., FCAP, chair of the College of American Pathologists Council on Accreditation.

The Clinical Genome Center has been awarded accreditation by the College of American Pathologists (CAP), certification via the Clinical Laboratory Improvement Amendments (CLIA) by the Centers for Medicare and Medicaid Services as well as a Clinical Laboratory License from the State of California.

The Institute began genomic sequencing in July 2016 and has since completed testing and interpretation of the genomes of more than 225 children enrolled in its research studies. More than one-third of the patients have received a genomic diagnosis with more than 60 percent of those benefitting from an immediate change in clinical care.

Earlier this year, the Institute initiated collaborations to provide testing services for Children’s Hospital of Orange County and Children’s Minnesota. Genomic testing is performed at the Clinical Genome Center only through research studies. Because such testing is largely not covered by medical insurance, genomic testing at the Institute is funded by private philanthropy and research grants.

“Our ultimate goal is that genomic sequencing in pediatric intensive care becomes routine,” said Chowdhury. “We’ve seen the benefits of this testing at Rady Children’s Hospital and we are working to extend our capabilities to other children’s hospitals. We feel very strongly that genetic testing offers a lot of benefit for patients and families.”

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 and partner hospitals. 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 2017, U.S. News & World Report ranked Rady Children’s among the best children’s hospitals in the nation in all ten pediatric specialties the magazine surveyed. 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