Rapid genome analysis for complex diagnoses

A rapid genome analysis that took only 10 days helped make the correct diagnosis in a critically ill 5 month old Turkish boy.


“In a dramatic illustration of the power of emerging genetic technologies, Yale University researchers have reported making a clinical diagnosis for the first time using comprehensive DNA sequencing of all the protein-coding genes in the genome. The information changed the course of treatment of a baby boy suffering from symptoms of dehydration thousands of miles away in Turkey.

The new approach to DNA sequencing used by Yale researchers and described online Oct. 19 in the Proceedings of the National Academy of Sciences is called whole exome sequencing because it selectively analyzes the 1 percent of the genome that contains genes that code for proteins. This approach has the potential to lead to dramatic new insights into almost every human disease and, as cost of the technology decreases, will be commonly used in clinical settings, predicted Richard Lifton, senior author of the paper and Sterling Professor and chair in the Department of Genetics and professor of internal medicine.”