UNC Tests Reliability of Human Genome in Diagnoses

Dec 22, 2011

Researchers at UNC-Chapel Hill are studying how doctors might use human genome sequencing in their private practices. The university is one of five institutions to receive a $6.4 million grant for the project. Scientists have spent the last two decades identifying and mapping each of the three billion groups of molecules that make up human DNA. UNC School of Medicine doctor Jim Evans says the next step is developing genomes as a reliable way to identify genetic diseases.

Jim Evans: "We will be doing whole genome sequencing in patients who have medical illnesses that have thus far defied diagnosis. So we will be really assessing its utility as a diagnostic tool and we will find out things about predispositions of these individuals for the future regarding their health."
The four-year study includes 750 patients at UNC Hospitals who have, or are susceptible to, genetic diseases like cancer or developmental disorders.