Personalized medicine is changing how doctors care for patients battling Alzheimer’s disease, autism, cancers, and other illnesses, including heart disease.
Heart disease is the leading cause of death in the United States for both men and women. It doesn’t discriminate. It claims more lives than all forms of cancer combined. The good news is that scientists are looking at personalized medicine to treat and prevent heart disease.
The Human Genome Project, which began a little more than a decade ago, has impacted the way physicians are treating a wide range of diseases by sequencing large amounts of genetic material. Personalized medicine is changing the way many doctors care for patients battling Alzheimer’s disease, autism, numerous types of cancers, and other illnesses. Now, it’s making slight inroads in how heart disease is diagnosed and treated.
“So far, genes have been identified for heart failure, cardiomyopathy, congenital heart disease, arrhythmias, and vascular disease and subtypes of these diseases,” said Elizabeth McNally, director of the cardiovascular genetics clinic at the University of Chicago. “The payoff is clear: a precise genetic diagnosis for the individual patient which helps influence the choice of treatment. The same genetic information is also a diagnostic tool for family members to determine who’s at risk.”
McNally believes that cardiac disease will be treated by correcting faulty genes. She said that personalized medicine, also called precision medicine, may allow better therapies in terms of efficiency, safety, and treatment length.
Using personalized medicine to treat patients with heart disease is still new, so new in fact that only a few cardiologists are incorporating it into their clinical treatments. Those involved in the research are enthusiastic. “Our findings have the potential to identify new targets in the prevention and treatment of stroke, cardiovascular disease, and many other common diseases,” said Stephen R. Williams, PhD, and postdoctoral fellow at the University of Virginia Cardiovascular Research Center and the University of Virginia Center for Public Health Genomics in Charlottesville.
One benefit is tailoring medications to the individual patient. The “one-size-fits-all” approach unfortunately doesn’t work for everyone. Williams sees safer dosing options, including a decrease of adverse drug reactions, improvements in drug developments through focused drug testing, and a decrease in healthcare costs. All of this has the potential to improve patient safety and empower patients.
In a scientific study, led by Williams, the genomes of nearly 5,000 people recognized a genetic variant tied to an increased risk for stroke. “That’s one example of how the findings may lead to new prevention efforts and may help develop new targets for treating stroke and heart disease,” Williams said.
The study also uncovered new details about an important metabolic pathway that may reveal clues to treating underlying genetic and biochemical causes in the development of stroke and cardiovascular disease.
They found a protein coding gene called GNMT or Glycine N-Methyltransferase; it converts methionine to homocysteine (both are amino acids). Elevated levels of homocysteine can cause heart attacks, strokes, and blood clots. “As genome sequencing becomes more widespread, clinicians may be able to determine if a person's risk for abnormally high levels of homocysteine is elevated,” Williams said. “Changes could be made to an individual's diet because of a greater risk for stroke and cardiovascular disease.”
A total of five genes were identified that are on the same pathway. “We know that the genomic variants affecting that pathway contribute to the variability in disease and risk that we’re seeing,” he said.
Going forward Williams and his team of scientists plan to study the other four genes they identified. They are hoping their findings will reveal more clues in the causes of stroke and cardiovascular disease.
While scientists are studying personalized medicine in relation to heart disease, doctors are emphasizing that patients focus on prevention by exercising, eating a well-balanced diet that is low in cholesterol, and quitting smoking.
March 31, 2020
Janet O’Dell, RN