FEB. 10, 2014
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."
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