UCLA Clinical Genomics Center

UCLA was among the first academic centers in the world to offer clinical-grade whole-exome sequencing, and it has now accrued an unparalleled experience of more than ten years and thousands of analyses. Utilizing its expertise in Pediatrics, Human Genetics, and Pathology, the UCLA Clinical Genomics Center provides a comprehensive analysis and diagnostic interpretation of a patient's entire protein-encoding genome by searching through 37 million base pairs in 20,000 genes to potentially locate the single DNA change responsible for the patient's disorder. Rather than analyzing genes one-by-one, this universal diagnostic service simultaneously investigates all possible causative genes in a time- and cost-effective manner and includes certified genetic counselors for pre- and post-test counseling as well as consultation from specialist physicians. This service utilizes next generation sequencing technology, state-of-the-art computational and bioinformatic resources, and integrated laboratory information systems to deliver a precise genetic diagnosis for the benefit of patients and physicians.  

From the beginning, this service has been structured in a holistic fashion, with strong emphasis on interdisciplinary academic and clinical input.  Every case is analyzed intensively by the unique “Genomic Data Board” that meets weekly and comprises laboratory directors, bioinformaticists, clinical geneticists, pathologists, genetic counselors, clinical fellows and, whenever available, the ordering physicians.  Only unanimously agreed-upon findings are reported out.  While it is quite conservative in designating a DNA variant as causative (pathogenic), the center’s overall diagnostic yield has been extremely high (25-50%); such a return is much higher than virtually any other genetic test.  In addition, the test has yielded a number of new disease gene discoveries. This success has been reported in high-profile journals and at international meetings.  Lastly, the group took an early leadership role in evaluating the need (or not) for routine confirmation by Sanger sequencing of variants detected in next-generation sequencing, and in the important and rather heated discussions at the national level about reporting of incidental/off-target findings. Given its uniformly high coverage across the genome, it is unusual for findings to be at all ambiguous, but if there is the slightest concern about that, the center has immediate access (just across the hall) to confirmation in the Orphan Disease Testing Center. In partnering with the UCLA Clinical Genomics Center, CTSI and Precision Health have refined a system for storage and analysis of EHR data that directly links with individual genomic data. 

For more information, please visit the Clinical Genomics Center webpage.

Last updated
January 27, 2025