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. This clinical test, performed under strict CLIA-compliant clinical laboratory conditions, utilizes so-called “next-generation” or “massively parallel” DNA sequencing platforms to obtain full DNA sequence of all the protein-coding regions in the human genome, about 30 million nucleotides of genetic code comprising about 23,000 genes. The technique thus allows testing not only of the small subset of known genes associated with genetic disorders but also any and all other genes that might be involved or yet to be discovered.  And all 23,000 genes are interrogated in parallel, in a single test, offering the chance to quickly put an end to the “diagnostic odyssey” that so many patients with mysterious presentations typically go through, taking many years, visits to countless specialists, and tens of thousands of dollars of laboratory testing and imaging.

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 “Genomics 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 4, 2024