Located on the campus of Rady Children’s Hospital and Health Center in San Diego, the Rady Clinical Genome Center is a CLIA-certified, CAP-accredited, genomics laboratory. The Genome Center incorporates both state-of-the-art infrastructure and expertise to provide rapid Whole Genome Sequencing (rWGS) to aid in the diagnosis of children with rare genetic disease.
To maximize the information that rWGS can provide, the Rady Clinical Genome Center (RCGC) works closely with the ordering physicians during the entire testing process to ensure the most timely and robust results. At RCGC, our services do not end with a list of variants or even just a molecular diagnosis. We provide clinicians with phenotype-driven analysis targeted not only to aid in diagnosis, but to offer insight into disease-specific interventions and help guide the care of their most fragile patients.
The Clinical Genome Center is staffed by world-class experts in genomic and systems medicine. Our clinical services team takes pride in bringing the weight of its collective experience to provide the quickest, most reliable path to genetic diagnosis and precision treatment.
Team members include clinical laboratory scientists, board-certified medical geneticists, bioinformaticians, software engineers and genetic counselors. Additional expertise is provided by RCGC physician-scientists who assist with clinical analysis and interpretation of sequencing results to deliver the most relevant and current information on the condition of interest to the clinical team.
Our focus on implementation science integrates process engineering—the design, operation, control, optimization and scalability—of WGS to enable rapid diagnosis and implementation of precision medicine.
“Speed is especially important for those newborns who are struggling to survive,” said Shimul Chowdhury, Director of the Clinical Genome Center. “Our laboratory processes are engineered to reveal disease-causing gene variations in just days, compared with the weeks required to obtain results with traditional testing methods.”
A preliminary result and verbal communication of rapid test results are provided within 7 days on average. An orthogonally confirmed result is provided within 14 days on average. Ordering clinicians can request testing be performed on an “ultra-rapid” basis request based upon the medical urgency of the child. In ultra-rapid cases, identified clinically actionable results or an update on current testing status are communicated within 5 days or less. Results are provided to the ordering physician and/or genetic counselor, who then discuss the results with the patient’s family.
The final clinical report sorts identified variants into three categories: 1) Primary Findings – variants in genes associated with the patient’s reported phenotype; 2) Incidental Findings (patients can opt out) – variants in medically actionable genes not associated with the patient’s phenotype; and 3) Selected Variants of Uncertain Significance – variants in genes possibly related to the patient’s phenotype. For Pathogenic or Likely Pathogenic primary findings, our team will further communicate precision interventions that have been associated with the identified variants.
The Rady Clinical Genome Center is licensed and accredited to provide clinical diagnostic testing via rapid Whole Genome Sequencing (rWGS). Following a stringent review process, the Center earned Clinical Laboratory Improvement Amendment certification (CLIA ID# 05D12129627) from the Centers for Medicare and Medicaid Services, accreditation from the College of American Pathologists (CAP ID# 9487427) and a Clinical Laboratory License from the State of California.
“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, MD, FCAP, chair of the College of American Pathologists Council on Accreditation. Read More.
Clinical rWGS testing is currently available to healthcare providers actively managing a pediatric patient hospitalized in intensive care. If you are a medical professional interested in ordering rapid genome sequencing through our CAP/CLIA certified laboratory, contact us at:
RCIGM_rWGS@rchsd.org or 858 / 966-8127