STANFORD, California – A new pilot program in clinical genomics
will allow a small group of patients at Stanford Hospital &
Clinics and Lucile Packard Children's Hospital Stanford to have their
DNA deciphered to help doctors with diagnosis and treatment.
The goal of the program, the Clinical
Genomics Service, is to help doctors better diagnose and treat
genetic disorders. 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
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."
Over the past several years, genome sequencing has demonstrated
great promise, particularly in cases of rare diseases, where patients
and families may have a genetic condition that has eluded diagnosis.
Already, hundreds of families with genetic diseases have benefited
from the power of this technology to discover the underlying cause of
their condition. In some cases, identifying a genetic cause of disease
may also provide important information related to personalized therapy
and care management. Stanford's service will use a highly 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.
This new service in clinical genomics will be closely tied to other
diagnostic genetic testing currently offered at the two hospitals.
Those programs, which include molecular genetic pathology,
cytogenetics, and clinical biochemical genetics, have an outstanding
record of compliance with the extensive regulatory requirements for
diagnostic genetic testing.
"Stanford has a special wealth of information and
analysts," said Jason Merker, MD,
PhD, assistant professor of pathology, the service's co-director.
"We involved physicians, 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, the Director of the Stanford Center for
Genomics and Personalized Medicine (SCGPM) and Chair of the Department
of Genetics, as well as members of the SCGPM, played a pivotal role in
foundation of the Clinical Genomics Service. Also, included in those
discussions were Carlos Bustamante, PhD, a Stanford professor of
genetics who was named a 2010 MacArthur Fellow for his work in genetic
sequencing, and Michael Cherry, PhD, Stanford 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."
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," said Dawes. "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."
Stanford's Clinical Genomics Service joins a small group of other
medical centers that now offer a variety of sequencing options. In
2010, Ashley and Stephen Quake, PhD, 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.