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Janet Graves, along with several family members, has been diagnosed with a heart condition that can lead to sudden cardiac death. With this genetic knowledge, Graves was able to take preventive measures.
Photo: Roman Sapecki
In the summer of 2007, Janet Graves had a routine EKG test to check the electrical activity of her heart. The results — along with a little help from family ties, modern genetic testing and the Internet — helped resolve a family mystery and educate the next generation.
Graves' EKG showed an abnormality that indicated hypertrophic cardiomyopathy (HCM), a heart disease that involves thickening of the heart walls. HCM is the most common inherited form of heart disease and the leading cause of sudden death in young athletes. "I started on some medications," recalls Graves, a 45-year-old teacher from Springfield. "But we've had some sudden deaths of young people in our extended family. Then last year, a 9-year-old cousin fainted during gym class. She tested positive for a specific gene mutation for HCM. When my extended family started communicating via e-mail and through social networking sites, we discovered that this disease probably killed several of my grandmother's nine siblings."
"Major red flags for genetic heart diseases include a diagnosis at an unusually young age and multiple generations afflicted with the disorder," explains Amy Sturm, a certified genetic counselor in the Division of Human Genetics at Ohio State.
"Genetics is considered 'P4' Medicine: predictive, personalized, participatory and preventive," explains Kandamurugu Manickam, MD, the genetic specialist who treated Graves. "Using genetics, we were able to predict her higher risk of sudden cardiac death. Fortunately, with treatments such as an implantable cardiac defibrillator — or ICD — Janet can avert a potentially fatal arrhythmia."
Genetic screenings are also useful for people with family histories of certain cancers. Women who test positive for a BRCA gene mutation have a 55 to 85 percent chance of developing breast cancer in their lifetime and are encouraged to have frequent breast cancer screenings. They also have the option of taking additional preventive steps, including taking certain medications and having prophylactic removal of at-risk organs through surgery.
Graves decided that getting an ICD was the right choice for her. She had the device implanted in September 2010. Also, several family members are getting screened for the disease. "One of my distant cousin's EKG indicated that she had to immediately stop all sports, even though she played volleyball and ran track," explains Graves. "So, we are fortunate to live in a time when this genetic testing is available. I'm sure we've avoided more early deaths in our family."
Family Health History
If you suspect a genetic disease, getting a reliable family medical history is the first step. "It's important to talk with every relative possible," says Leigha Senter-Jamieson, certified genetic counselor at Ohio State.
"There are usually one or two family members who know everything about everybody, like your grandmother or an older aunt," explains Amy Sturm. "Make sure you write down the information so you can talk to your doctor, and also pass the information down to the next generation."
"Genetic testing helps create a personalized screening plan for the patient to implement with his or her healthcare providers," adds Senter-Jamieson. Genetic counseling and testing should be done by counselors or physicians who specialize in genetics who can make sure the right tests are ordered and the results are interpreted correctly.
Download our family heart health history family tree.
The Power of 4Ohio State's Medical Center is a founding member of the P4 Medicine Institute, established to create health care that predicts and prevents illness, focuses on health and wellness and considers the consumer the central figure in care. It is the world's only organization dedicated to accelerating the emergence and adoption of health care that is predictive, preventive, personalized and participatory.
Using a person's genetic makeup to generate predictions about his or her health.
Using a person's health-related information to prevent disease before it starts.
Customizing medical care to the individual patient.
Encouraging patients to actively participate in their personal choices about illness and well-being.