Some patients with a suspected genetic disorder will go on what medical professionals call a diagnostic odyssey to find the cause of their symptoms.

A sample is run through the HiSeq 2000, a high-throughput sequencing system in the DNA lab at the University of Iowa Eckstein Medical Research Building in Iowa City. The green dots on the screen show a cluster of the fragment being sequenced. The lab also uses a HiSeq 2500, which can complete sequencing in 27 hours to the HiSeq 2000's 12 days. The Iowa Institute of Human Genetics at the University of Iowa is now offering whole exome sequencing, which is among several initiatives the institute is pursuing to further personalize medicine for patients. (Liz Martin/The Gazette-KCRG)

But those explorations, on occasion, can come up empty, frustrating patients and prompting health care providers to seek outside expertise.

Last month, the Iowa Institute of Human Genetics at the University of Iowa began offering such expertise through whole exome sequencing.

The genetic test, which analyzes a portion of about 20,000 genes in the human genome in hopes of helping practitioners diagnose and treat a patient, is among several initiatives the institute is pursuing to further personalize medicine for patients in Iowa and across the country.

The research we do here is to develop new tests to bring precision medicine to the state, said Colleen Campbell, assistant director of the Iowa Institute of Human Genetics and associate with the UI Department of Otolaryngology.

Researchers with the institute also are conducting tests around secondary findings from exome sequencing the discovery of variants in genes unrelated to a patients primary condition and how a persons genes interact with prescribed medication, including pain medication.

The technology is new, but officials with the Iowa institute said genetic sequencing one day could become so widely used that every infant will have it done as part of the standard newborn screen. Then, as a child grows, practitioners will be able to use the information to determine what type of pain medication to prescribe and at what level, for example.

Our focus is to bring innovation to the state, Campbell said. We want patients to be more informed when they go to the doctor and are offered these new tests. And we want to be able to offer this as a tool to doctors.

The Iowa Institute of Human Genetics is among only a dozen or so institutions nationally that offer whole exome sequencing to physicians wanting to order the test on behalf of a patient.

Continued here:
University of Iowa hopes to use sequencing to better diagnose and treat patients

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