The leaders of Stanford Medicine, Stanford Health Care, and Stanford Children’s Health came together for a ribbon-cutting ceremony to launch the new Stanford Clinical Genomics Program. The program brings the diagnostic power of whole-exome sequencing to children and adults with undiagnosed genetic conditions. As part of the program, a multidisciplinary team of Stanford experts can identify the underlying genetic basis for a patient’s condition in nearly a third of cases, which may provide important information to guide treatment or medical care decisions.

“What better place to build the premier clinical genomics program in the world than right here at Stanford?” asked Stanford School of Medicine Dean Lloyd Minor, M.D., at the ribbon-cutting ceremony. “We have the vision to heal humanity through science and compassion. And we have an overall strategic vision to lead the biomedical revolution in precision health. Genomics is a thread that connects through all the elements of this vision.”

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 – called the exome. From those, a Stanford-built software narrows down the results to about 100 gene variants. Molecular genetics pathologists, experts with a deep knowledge of the exome and the patient’s medical history, then analyze and interpret the data manually, comparing each gene variant with those found in scientific literature. This way, they hope to identify a genetic cause of disease or, potentially, rule one out.

“Several years ago, we launched our genetic testing program to look at undiagnosed genetic diseases that were some of the toughest patient cases we were seeing. After sequencing and analyzing the full exome of these patients, it quickly became apparent that we have a profound opportunity to help them,” said Stanford Health Care President & CEO David Entwistle. “This is the power of whole-exome sequencing and analysis – to diagnose diseases and conditions that we didn’t even know were possible. Giving a name to a disease can be a life-changing event for an individual suffering from a previously undiagnosed disease.”

Genomic sequencing, including exome sequencing, has already demonstrated great promise in many areas of medicine. Exome sequencing has been particularly successful in pediatric settings, when a patient’s suspected genetic condition has eluded diagnosis. Many families with genetic diseases have benefited from the power of this technology and its ability to identify the underlying cause of their condition.

If the initial analysis of a patient’s whole exome does not uncover a diagnosis, the test can be reanalyzed annually, so the patient’s sequencing data can be compared to newly discovered genetic variants. With reanalysis, Stanford experts can continue to make diagnoses for years to come.

“We all know that the most important thing that families want is a diagnosis and they want an accurate diagnosis, so they know what to expect” said Co-Medical Director of the Clinical Genomics Program Louanne Hudgins, M.D. “By bringing this most up-to-date genomic testing that’s clinically available in house, we’re going to be able to make more-precise diagnoses because we’ll have that interaction with the ordering providers.”

Stanford has a long history of expertise in genomic sequencing analysis and interpretation, as well as clinical genetic testing. Stanford Health Care and Stanford Children’s Health are two of a small number of hospitals nationwide to offer clinical exome sequencing in-house. By offering this testing in-house, the Stanford team responsible for interpreting the test will be in close communication with the patient’s care team. With such a complicated test, this communication is critical to ensuring the most meaningful result possible.

“The Clinical Genomics Program serves as a wonderful example of the successful collaboration between, Lucile Packard Children’s Hospital, Stanford Health Care, and Stanford Medicine,” said Stanford Children’s Health Interim CEO Dennis Lund, M.D. “We can now offer the latest genomic testing and improve the treatment of our patients with complex genetic disorders.”

To learn more, please visit the Stanford Clinical Genomics Program.