Euan Ashley, MD and Louanne Hudgins, MD discuss Stanford's Clinical Genomics Program.

The Clinical Genomics program is an exciting collaboration with Stanford Health Care and Stanford Children’s Health. The promise of genomic sequencing is especially helpful for those who have been on a medical odyssey, undergoing many tests, without receiving a diagnosis.

This program allows us to find medical answers that are difficult to diagnose. Often, there is an underlying genetic basis of a patient’s condition, which may provide important information that can be used to guide decisions about treatment and medical care. Rather than looking at all three billion base pairs of the human genome, whole-exome sequencing examines the approximately 21,000 protein-coding genes that are most likely to cause disease. From those, a Stanford-built software platform narrows down the results to about 100 gene variants. Then, our molecular genetics pathologists, who are experts with a deep knowledge of the exome and the patient’s medical history, analyze and interpret the data manually and compare each gene variant with those found in scientific literature.