Stanford Medicine Newsletter Updates For the Local Community

 

Genomics gets personal

New service to help untangle the mysteries of DNA

Julie Prillinger decided to have her genome sequenced at the new Clinical Genomics Service to give her daughter information about her own health.

   

An athlete in both high school and college, Julie Prillinger had no idea anything was wrong with her until she went for a physical for a new job. The doctor detected something unusual in the rhythm of her heartbeat and referred her to a cardiologist.

Tests showed that Prillinger had an inherited condition of the heart called hypertrophic cardiomyopathy. It is caused by mutations in genes involved in the heart’s muscle cells. Those mutations typically disorganize those cells, altering the heart’s walls and disrupting the flow and force of blood out of the heart. It is the most common cause of sudden death in young people and one of the most common inherited cardiovascular disorders.

Prillinger, whose father died at 49 of a suspected heart problem, followed her doctor’s recommendation to have a defibrillator implanted in her chest to shock her heart if she were to experience a dangerous rhythm.

Pilot program

After the birth of her first child, however, she thought about a next step — an analysis of her entire genome, the combination of genetic instructions from her mother and father that contributed to her unique makeup. She wanted to know more about the genetics of her heart condition.

“This is the right thing to do for our family — and our friends and family have been very supportive,” Prillinger said. Her genome was among the first to be sequenced through a pilot program of the new Clinical Genomics Service at Stanford Hospital & Clinics. Clinicians at the service will examine the genomes of a small group of patients at Stanford Hospital & Clinics and Lucile Packard Children’s Hospital Stanford to decipher their DNA and help diagnose and treat genetic disorders.

In the pilot phase, genomic testing will be limited to children with mystery diseases, patients with unexplained hereditary cancer risk, patients with inherited cardiovascular or neurological disease, and those with severe, unexplained drug reactions. A physician must refer potential participants, and the Clinical Genomics team will determine which patient cases are suitable for sequencing.

Personalized medicine

“I am very excited to bring the pioneering work of Stanford genomic scientists directly to the bedside of our patients,” said Euan Ashley, MD, PhD, associate professor of medicine and of genetics, and co-director of the new 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 apply 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.

The new service will be tied closely to other diagnostic genetic testing programs 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.

Broad expertise

“Stanford has a special wealth of information and analysts,” said Jason Merker, MD, PhD, assistant professor of pathology and the service’s co-director. “We have 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, MD, director of the Stanford Center for Genomics and Personalized Medicine and chair of the Department of Genetics, as well as members of his group, played a pivotal role in developing the new service. Other key experts involved in designing the program include 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.

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, 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 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.

For the future

While some may be reluctant to learn what their genome contains, Prillinger is certain of her decision, particularly as it could have impact on the generations to come.

“It won’t change my course very much,” she said. “The benefit will be for my daughter,” who may be able to take steps to protect her own health. When the time comes to review the results, Prillinger will confer with a genetics counselor who will carefully take her through the complexity of her revealed genome. Megan Grove, a genetics counselor with the new service, said that while some of the genes that influence the development of hypertrophic cardiomyopathy are well known, there may be other, undiscovered information related to the condition encoded in the human genome. Looking at a whole genome will enable the expansion of current tests to include that new information.

“Our genomes are so large, and we all have a lot of genetic variations,” she said. “We are still learning what certain types of genetic variations mean — and we also know that genes are not always the whole story. There are still many questions to be worked out.”

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