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Joe Borgenicht

Senior Writer & Editor,

May 16, 2013 2:00 PM

(SALT LAKE CITY)– University of Utah Health Sciences has formally launched a Genome Board—an interdisciplinary, clinical rounds system that processes complex genetic information into actionable clinical knowledge. 

As part of an evolving system of comprehensive clinical evaluation, the Genome Board is an extension of the Utah Genome Project in collaboration with the Department of Human Genetics at the University of Utah, University of Utah Health Sciences and University of Utah Health Care. The Genome Board provides a forum for discussion and interpretation of genetic, bioinformatic and clinically diagnostic data for patients with undiagnosed diseases. 

“We’ve established a clinical rounds procedure to review the outputs of the clinical recruitment and evaluation of the undiagnosed disease problem,” said Mark Yandell, Ph.D., professor of Human Genetics and BioMedical Informatics at the University of Utah Health Sciences. “Combined with a state-of-the-art genome analysis pipeline and the right people in the audience, we have a much better chance to make the right diagnosis.” 

Included in the analysis procedure is a software tool called Opal (, developed by Omicia as part of an NIH funded collaboration between the University of Utah and Omicia Inc. 

“OPAL provides an easy to use platform for genome interpretation. Its purpose is to assist clinicians with the genetically-informed diagnosis using genomes data, and to empower multidisciplinary forums such as the Genome Board at the University of Utah,” says Martin Reese, chief scientific officer and president of Omicia Inc.  

Initially, the Genome Board is focusing its efforts on patients with complex phenotypes and undiagnosed diseases. Many of these patients spend years moving from specialist to specialist, without ever receiving a diagnosis. 

“This is the right way to approach these patients,” said Stephen L. Guthery, M.D., M.S., associate professor of pediatrics and adjunct associate professor of human genetics at University of Utah Health Sciences. “There are so many other layers of complexity with regards to these patients, but I think that the major issue is just getting the experts in the same room to discuss the data together. Ultimately, it’s less expensive than a lot of things we do in health care.” 

In much the same way health care providers meet at Grand Rounds to share cases and compare notes, the Genome Board, a broad interdisciplinary team, meets monthly to compare new genetic data to known clinical phenotypes. The group is comprised of several specialty clinicians, genetic scientists, biomedical informaticians, an expert in molecular medicine, a genetic pathologist and genetic counselors. From his or her unique expertise, each team member works with the others to produce a diagnosis. 

“There’s still uncertainty whether the genome sequence as a diagnostic tool can lead to a proper diagnosis in these cases, especially when a single patient is involved, “ said Guthery. “And so the questions we need to consider are: What is the plan for the patient to deal with the uncertainty? What is the plan clinically to deal with the uncertainty? How do you know which gene variant among many is causing the disease?” 

Guthery notes that the most efficient way is to find patients with the same set of symptoms and compare their genome sequences. In the case of rare and undiagnosed conditions, however, it can be challenging to find these patients in limited populations. 

“Collaborating with diagnostic experts around the country, who can share patients’ phenotypes, can reduce uncertainty and help determine what’s actually causing a patient’s illness,” said Guthery.

University of Utah Health Care services both urban and rural populations in a referral area that covers 10 percent of the landmass of the United States and serves as the gateway to the west, when looking across the nation for matching phenotypes.

Additionally, University of Utah Health Sciences is home to the Utah Population Database, the nation’s only database of its kind that retains genealogic ancestry matched with medical and public health records. This database gives the investigators access to finding relatives who might also be suffering from similar phenotypes or are unaffected carriers of a particular genetic mutation.

The Utah Genome Project is a large-scale initiative to advance the development of better disease prevention, diagnosis and treatment methods through discovery of new genetic signatures for human disease and response to drug therapies, using genome sequence analysis. While genome sequence analysis is becoming routine in biomedical research, the Utah Genome Project is different. Unlike genome initiatives that study unrelated groups of people, the Utah Genome Project investigates genetic signatures of disease and drug response in large families.