Genomic medicine has potential to predict and prevent cardiovascular disease and stroke

John Murphy, MDLinx | June 08, 2018

Genomic medicine has the potential to shift clinical care—particularly cardiovascular care—from its current reactive approach of treating existing disease to a proactive approach in which clinicians prevent disease, according to a scientific statement from the American Heart Association (AHA), published recently in Circulation: Genomic and Precision Medicine.


Genomic medicine may provide patients with a personalized forecast of their cardiovascular risk, as well as individualized therapy designed to treat their disease, AHA authors predicted.

“The promise of genomic medicine is to be able to use a patient’s specific genetic material to make a personalized forecast of their risk for heart disease, and if they develop disease, predict its course and determine the particular medications that are more likely to help with their disease,” said Kiran Musunuru, MD, PhD, MPH, chair of the writing committee for the statement and associate professor, Cardiovascular Medicine and Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.

“Over the next decade, as we learn about cardiovascular disease at the molecular level, the hope is that we can develop therapies that will take advantage of this knowledge and be able to either treat or potentially cure disease,” said Dr. Musunuru, who is also editor-in-chief of Circulation: Genomic and Precision Medicine.

The authors of the AHA statement noted that although genomic medicine is being actively investigated, it has yet to be translated to the clinic—albeit for a few exceptions.

One exception is a currently available noninvasive blood test that uses gene expression profiling, as opposed to biopsy, to determine if a patient undergoing cardiac transplantation is rejecting the graft.

“The hope is that with genomic medicine, there will be hundreds of examples of noninvasive tests like this that doctors can do to better forecast and better manage disease,” Dr. Musunuru said.

Similarly, researchers hope that induced pluripotent stem cells (iPSCs), which can be converted into any type of cell, will provide clinicians with a noninvasive method to evaluate a patient’s risk for cardiovascular disease.

Induced pluripotent stem cells could also be used to test potential treatments before administering them to patients. For example, doctors could use iPSCs to grow millions of a patient’s heart cells in the laboratory and use these cells to identify the best course of treatment to benefit that patient.

The use of iPSCs is not yet available to patients, but preliminary results are promising, Dr. Musunuru noted. “With induced pluripotent stem cells, we will be able to determine upfront which medications are going to work better and get a sense of a medication’s potential side effects,” he said. “I am confident we will reach the point where we can start incorporating these kinds of cells into actual patient care.”

The authors anticipate that within the next 20 years, patients may be routinely undergoing different types of genomic testing at costs comparable to those of standard laboratory tests.

In the long term, wide-scale genomic studies “will yield novel insights into disease and improved methods to use the patients’ genomic data for the prediction, prevention, diagnosis, prognosis, and treatment of those patients and ultimately pave the way for improved cardiovascular and stroke care for the entire population,” Dr. Musunuru and coauthors wrote.