Researchers probe DNA to understand disorders

The University of Washington Adult Medical Genetics Clinic is not only well-established—both UW and Johns Hopkins started the first genetics programs in 1957—but is widely considered the best in the world.

“We have trained many of the experts in adult medical genetics in the U.S.,” notes Gail Jarvik, director of the clinic and UW professor and head of Medical Genetics.

Most of the physicians who staff the clinic are at the forefront of genetic research in the U.S. Jarvik, for example, studies the genetics of atherosclerosis (hardening of the arteries) and stroke, cholesterol disorders and vascular disease. Other areas of expertise include: the neurogenetics of dementias, movement disorders, neuromuscular diseases, epilepsy and autism.

The Genetic Medicine Clinic also hosts more than 50 medical students and residents each year who do rotations to enhance their knowledge of how genetics is applied to patient care.

Though not all of the patients may initially be aware of the clinic’s worldwide reputation, its offerings of genetic testing, counseling and treatment for a variety of diseases with a genetic component can be lifesavers.

About half of the clinic’s patients are cancer patients. “People come here because they have lots of cancers in their families,” says Jarvik, who notes that the future of cancer treatment is going to entail more genetic testing. “If doctors are going to treat cancer patients, they are going to have to deal with peoples’ genes. Physicians are being trained to use pharmacogenetics—the science of how a person’s genes react to a particular drug—to ensure the most effective treatment,” says Jarvik.

Laura (no last name to protect her privacy), Seattle mother of two daughters, found herself under a dark cloud wondering if her body harbored a cancer-causing gene. Her mother had breast cancer and survived a bout of ovarian cancer that was detected early. Also, her brother died of pancreatic cancer at a young age. Her mother, now in her mid-80s, had been tested based on Jarvik’s recommendation and was positive for a mutation in the BRCA2 breast cancer gene. (Mary-Claire King, UW professor of genetics, discovered both BRCA1 and BRCA2 genes.)

“Because we are Ashkenazic Jews (from Eastern Europe), there is a higher risk for breast cancer genes BRCA1 and BRCA2. My whole life, I felt at risk for breast cancer. I found myself thinking about double mastectomy because that really reduces the risk of breast cancer, too,” says Laura. She got tested at the UW clinic for the BRCA2 gene. “When Gail (Jarvik) gave me the news that I didn’t have those genes, I felt like I had won the genetic lottery. And, my daughters don’t have the gene because I don’t have it.”

Of course, all the news for the clinic’s patients is not as happy as Laura’s. Of the 2,000 people treated annually in the clinic, some of the conditions and treatment are for rare, inherited disorders. However, some conditions are relatively common and many people don’t realize there can be a genetic component.

Hypertrophic cardiomyopathy is a good example. The disease, in which the heart muscle is abnormally enlarged and thickened, affects about one in 500 people and often has an identifiable genetic cause.

Tori Sorenson had no idea that she had hypertrophic cardiomyopathy until she suffered a sudden cardiac arrest while playing intramural basketball during her senior year at Gonzaga University in Spokane. She sustained some brain damage, but eventually recovered and had genetic testing that revealed she carries the gene. Three of her five siblings also show signs of having the disorder. After surgery and rehabilitation, Sorenson’s symptoms are gone, but her children stand a 50 percent chance of inheriting the gene.

Many times, Jarvik says, a person doesn’t realize he or she could benefit from genetic testing. For example, people with high cholesterol may have a genetic basis for the condition. Knowing that this problem can be inherited can help clinicians and patients prevent the effects of high cholesterol with earlier treatment and lifestyle changes.

Because of the Genetic Information Nondiscrimination Act of 2008, insurers cannot deny health insurance to people based on a positive genetic test. Learn more about the Adult Genetic Medicine Clinic: