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Leadership

From Gene to Genome

UCLA stakes an early claim to leadership in clinical genomic sequencing.

Dr. A. Eugene Washington, MD, MSc

Yes, the future does often exist somewhere. In the case of genomic medicine, that place is UCLA. I witnessed it firsthand when I participated last July in the eye-opening weekly case conference of our Clinical Genomics Center (CGC). This collaboration among multiple departments in the David Geffen School of Medicine at UCLA and UCLA Health System has set the standard for the transformation of molecular medicine to the new era of genomic medicine.

Moving beyond traditional genetic testing of one or a few genes at a time, the CGC utilizes so-called "next-generation" or "massively parallel" DNA sequencing to obtain full DNA sequences of all the protein-coding regions in the human genome, about 30-million nucleotides of genetic code comprising about 20,000 genes.

The technology allows examination not only of the small subset of known genes associated with genetic disorders, but also of all other genes that might be involved. And all 20,000 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 illnesses typically go through. Just such a case impressed me on the day I attended, that of an infant with neonatal hepatitis of unknown cause despite extensive diagnostic work-up at an outside hospital. The UCLA genomic test identified two mutations in the gene for an ultra-rare recessive genetic disorder, which informed not only the likely prognosis, but also potential targeted drug and enzyme therapies.

Our UCLA group has pioneered not only the technical applications, but also a unique approach to interpretation of the mass of data produced by a single patient's DNA sequence. The session I attended demonstrated this concept in real time, as this multidisciplinary team evaluated the clinical significance of the many DNA-sequence "variants" revealed in each patient's genome and decided which ones to report out. This entity, the Genomics Data Board, which is modeled after the familiar Tumor Board concept, is now being emulated by other centers across the country.

Meanwhile, other centers lacking the resources or expertise to establish such a service are referring cases to UCLA, and the ordering physicians are invited to sit in via videoconferencing technology on the Genomics Data Board conference when their own patients are discussed.

I am proud of UCLA's leadership in this realm of genomic and personalized medicine, which is already helping patients who formerly were without hope, and will soon be transforming all of clinical practice. It is one reason why we have targeted genetics/genomics as one of UCLA's top strategic priorities to pursue in the coming years - an adventure all of us will share.

Dr. A. Eugene Washington Signature

A. Eugene Washington, MD, MSc
Vice Chancellor, UCLA Health Sciences
Dean, David Geffen School of Medicine at UCLA
Gerald S. Levey, MD, Endowed Chair

 





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