FEB. 10, 2014

Pilot program offers genomic testing to certain patients

BY SARA WYKES

Euan Ashley

A small group of patients at Stanford Hospital & Clinics and Lucile Packard Children's Hospital Stanford now can have their DNA deciphered as part of a new pilot program.

The goal of the program, the Clinical Genomics Service, is to help doctors better diagnose and treat genetic conditions. In the pilot phase, genomic testing will be limited to patients with "mystery" diseases (typically children), patients with unexplained hereditary cancer risk, patients with inherited cardiovascular or neurological disease, and those with severe, unexplained drug reactions. Potential participants must be referred by a physician, and the clinical genomics team will then determine whether patient cases are suitable for sequencing.

"I am very excited to bring the pioneering work of Stanford genomic scientists directly to the bedside of our patients," said Euan Ashley, MCRP, DPhil, associate professor of medicine and of genetics and co-director of the new Clinical Genomics Service. "Because of the foresight and support of our leadership, we have a remarkable opportunity to bring world-leading Stanford science to Stanford patients fast and first."

The service will use an integrated approach that includes professional genetic counseling, the most advanced genome sequencing technology available and expert interpretation by molecular genetic pathologists and other physicians with expertise in this emerging and complex field. It will be closely integrated with a broad range of other diagnostic genetic testing now being offered by pathology services at the adult and children's hospitals.

"Stanford has a special wealth of information and analysts," said Jason Merker, MD, PhD, assistant professor of pathology, the service's other co-director. "We involved physicians, other health-care providers, bioethicists, bioinformaticians and other researchers, inviting everyone to voice their thoughts for the broadest, deepest discussions possible on how to apply these new methods and knowledge to clinical care."

Michael Snyder, PhD, director of the Stanford Center for Genomics and Personalized Medicine and chair of genetics, as well as other members of the center, have played a pivotal role in the design and implementation of the service. Also, included in those discussions were Carlos Bustamante, PhD, a professor of genetics who was named a 2010 MacArthur Fellow for his work in genetic sequencing, and Michael Cherry, PhD, associate professor of genetics and principal investigator in several genome database projects.

"This new service can represent the best definition of the term personalized medicine," said Amir Dan Rubin, president and CEO of Stanford Hospital & Clinics. "The collaboration of our world-class experts in patient care and scientific research will advance the leading edge of knowledge in genome sequencing, bringing greater value, in the most responsible way, to what we offer our patients. Our goal is to use this new technology for early and accurate diagnosis and treatment for patients now — and to learn and share that knowledge with medicine's new future."

Jason Merker

Lloyd Minor, MD, dean of the School of Medicine, said the Clinical Genomics Service exemplifies the bench-to-bedside philosophy at the heart of Stanford Medicine. "It will serve as a bridge to better connect the groundbreaking genetic science of our laboratories with the patient care of our hospitals and clinics," Minor said. "The efforts of Drs. Ashley and Merker and their team are helping to shape a medical future in which disease risk can be more accurately predicted and treatments better tailored to individual patients."

Christopher Dawes, president and CEO of Lucile Packard Children's Hospital Stanford, sees the new service as a logical extension of the kind of care established since that hospital's opening — and its particular intellectual environment.

"The genetics revolution is taking off in Silicon Valley, much like the information technology revolution has over the past few decades," Dawes said. "We are very fortunate that our Stanford scientists work so closely with our pediatricians and obstetricians in conducting leading research in the field of genetics. Our patient community is especially touched by genetics, from preconception counseling to prenatal testing to children presenting with undiagnosed diseases, and we are particularly pleased that this new clinical service will continue the tradition of delivering world-renowned science directly benefiting our patients and families."

Stanford's Clinical Genomics Service joins a small group of other medical centers — about 15 — that offer a variety of sequencing options.

In 2010, Ashley and Stephen Quake, PhD, the Lee Otterson Professor of Bioengineering, were the first in the world to use a healthy person's complete genome sequence to predict risk for disease and anticipate reaction to several common medications.These new genomic services are the first wave to test this new knowledge. "As people who are in the trenches, I hope we can temper appropriate optimism with realism," said Ashley.

The Clinical Genomics Service is the product of two years of discussion among the hospitals' and School of Medicine's departments of genetics, medicine, pathology and pediatrics and the Stanford Center for Genomics and Personalized Medicine. The effort was chaired by center co-director Stephen Galli, MD, professor and chair of pathology and an author of a recent report by the National Research Council/Institute of Medicine that called for a national effort to utilize genomic testing widely in order to improve patient care and to contribute to the prediction and prevention of disease.


Sara Wykes is a writer in the communications office at Stanford Hospital & Clinics.

Stanford Medicine integrates research, medical education and patient care at its three institutions - Stanford University School of Medicine, Stanford Hospital & Clinics and Lucile Packard Children's Hospital Stanford. For more information, please visit the Office of Communication & Public Affairs site at http://mednews.stanford.edu/.

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