ACC.14: Genomics, other research poised to transform care

WASHINGTON, D.C.—As healthcare moves toward a more predictive, preventative and preemptive model, a variety of innovations from genomics to communication technology will make significant gains in cardiology, according to a presentation during the Opening Showcase on March 29 at the American College of Cardiology (ACC) scientific session.

“We’re in an exciting age in which, in many ways, I believe the future of cardiology couldn’t be more dynamic and poised for transformation,” said Gary H. Gibbons, MD, director of National Institutes of Health’s Heart, Lung, and Blood Institute (NHLBI), during the Simon Dack Lecture.

Gibbons began by reiterating NHLBI’s mission to support investigator-initiated fundamental science, develop a balanced research portfolio and implement scientific findings in practice.

While research has led to impressive gains, Gibbons noted, “One of the challenges of that success is recognizing that not every community is participating in those discoveries and that we still have some unfinished business-related health inequities.”

One example of a health inequality is in the setting of chronic kidney disease. Medicare expenditures have been rising in the treatment of the condition, and certain populations—namely African Americans and Native Americans—have disproportionately high rates of kidney disease.

Enter the growing field of genomics, which may hold the key to addressing the gap in kidney disease. Research has found that a variant in the APOL1 gene more common in African Americans can make an individual susceptible to chronic kidney disease. This variant spread based on positive selection because it conveyed a survival advantage in some sub-Saharan regions in Africa by combating parasites that led to disease. However, the variant is more a disadvantage in the setting of modern America where people are exposed to high-fat, high-salt diets and hypertension.

Studying genomics and the effect of ancestry and environment exposures has the potential to transform the way many diseases are managed. “This is an opportunity where discovery science not only enhances the health of the nation, but by preventing diseases that drive Medicare costs and Medicaid costs, it could actually bend the cost curve as well and enhance the wealth of the nation,” said Gibbons.

Other innovations touched on by Gibbons are the potential to use a child’s own cells to patch holes in the heart and correct for other forms of congenital heart disease, as well as the use of 3D printing to experiment with new ways of interrogating the heart.  

Gibbons noted a potential blind spot for healthcare in that it is lagging behind other industries in truly utilizing communication technology to gather all the possible information about patients. He showed what looks like when he logs in, and pointed out the wealth of collected data that must have gone into personalizing the page and product recommendations. “I’m afraid and a little concerned that if biomedicine doesn’t wake up we may be losing the opportunity to seize the digital age.”