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From DNA to diagnosis


They are creating and implementing a genetic discovery pipeline that will accurately translate a patient's complete DNA sequence, revealing the genetic causes of health disorders within seconds.

Presented in an easy-to-interpret format, the information will empower health care professionals to prescribe the best, most cost-effective ways to control existing conditions, and prevent or delay the onset of new ones.

"What we want to be able to do is help the kid who is born with a hard-to-diagnose genetic disorder," said Yandell. "Our genome interpretation tools will be able to identify that disorder and guide treatment."


"Current systems are not prepared for the increasing amounts of data we will be seeing within the next few years," said Marth, a computer scientist who was instrumental in the success of high profile projects such as the Human Genome Project, HapMap Project, and 1,000 Genomes Project. He relocated to the University of Utah from Boston College to apply his skills in a medical setting.

"At some point all of humanity will be sequenced, and potentially more than one genome per individual," he continued. Marth and Yandell, professors in human genetics at the University of Utah, will lead efforts to tame the big data to come not only from personal genomes, but also tumor genomes and "metagenomes" from infectious disease agents such as viruses and bacteria.

Knowing the DNA sequence of a cancer patient's tumor, for example, may reveal a personalized treatment plan for combatting the disease. Pinpointing tiny sequence variations in personal genomes will expose inherited diseases that, in some cases, may be life-threatening.


"We are building the information highway that is necessary for taking genetic DNA information from the sequencing machine all the way to clinical use," said Marth.

The same features that make VAAST a robust genome interpretation tool make it a powerful engine for disease discovery. The center is collaborating with Utah Genome Project investigators, who leverage an enormous collection of genealogical and health records dating from pioneer times, to search for the genetic causes of cancers, immune, lung, heart, and other inherited diseases.

"Once we identify the genetic causes of disease, we can work towards better diagnoses, more effective treatment, and sometimes curing those diseases," said said Lynn Jorde, Ph.D., Executive Director of the Utah Genome Project.



Contact: Julie Kiefer
University of Utah Health Sciences

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