The following is a medically-accurate, but fictional account of how genetic information can be used in clinical decision-making and preventive care.
John Williams is a 48-year-old financial analyst with a well-paying, but stressful job in New York City. Each year, John's health insurance provider encourages him to visit his primary care physician for an annual physical. Nine months ago, John did just that.
When John described his family's history of heart disease, his physician suggested genetic testing to identify John's genetic variations (his SNPs) and better understand his risks for this and other genetic diseases. John's genetic results highlighted he has a 40% greater risk of coronary artery disease compared to people with no copies of the risk variant associated with the disease
Coronary artery disease is caused by a buildup of fatty plaques in the blood vessels (atherosclerosis). This buildup makes it hard for blood to get to the heart, which can cause a heart attack. Coronary artery disease is the most common type of heart disease. It is the cause of 1 out of every 5 deaths, making it the leading cause of death in the United States.
John can't change his genetics, but his doctor explained that non-genetic factors also increase his risk for coronary artery disease. For example, cigarette smoking is a powerful risk factor (Inoue, 2004). Also, high blood pressure, high cholesterol and diabetes have been identified as significant risk factors that contribute to heart disease. Fortunately, most of the risk factors for coronary artery disease can be reduced or eliminated by making healthy lifestyle and behavior choices.
With the help of his doctor, John enrolled in a smoking cessation program and quit smoking. Aware of the increased role having diabetes plays in men's risk for coronary artery disease, John has made changes to his lifestyle to better manage his weight and diet. John's doctor also advised him to try and minimize his stress. More studies are showing that stress may be another factor that leads to heart complications. People under greater stress are also more likely to overeat, start smoking, or smoke more than they usually do. All of these factors increase the risk of developing coronary artery disease.
As this example demonstrates, the usefulness of genetic information in disease screening, prevention and earlier intervention can offer patients improved health outcomes.