The Next Frontier of Heart Care

Svati H. Shah, MD, was a cardiology fellow at Duke in the early 2000s when a realization began to haunt her: Young men and women in their 20s and 30s were arriving in the cardiac unit with heart attacks that seemed to defy explanation. "Some seemingly healthy people developed heart disease," she said, "while others did not."  Shah could not stop asking why. 

That question — quiet and persistent — would shape the next three decades of her career, and in ways she couldn't predict then, help reshape what cardiology itself is becoming. 

Shah, now a professor of medicine, associate dean for translational research, and newly appointed president-elect of the American Heart Association, has spent her career at the intersection of genetics, data science, and cardiovascular disease. She came to Duke, drawn by its culture of clinical research — what she describes as a commitment to "data over dogma." Proving what works, not assuming it. Testing it and then testing again. 

Shah’s curiosity about her young patients helped launched CATHGEN with her mentor William Kraus, MD, a pioneering Duke study that collected blood samples from patients undergoing cardiovascular procedures and contributed to some of the earliest discoveries linking specific genetic variants to coronary artery disease.

It was groundbreaking work, but it still wasn't enough.  

The Blueprint: OneDukeGen 

Genetics plays an important role in cardiovascular health and disease — but it’s not the only factor. 

“Your DNA is the blueprint," Shah said. "But all kinds of things happen throughout your life that influence whether you actually develop disease." 

The realization helped spark a broader vision of precision health, one that treats each patient not as a category but as an individual.

"The goal," Shah said, "is the right medicine, at the right time, for the right patient." 

That goal now has a home: OneDukeGen, a university-wide initiative led by Shah that has enrolled nearly 20,000 participants, with a goal of enrolling 100,000 Duke patients, and represents one of Duke's most ambitious efforts to weave together genetics, data science, AI, and patient care.

The program confronts a longstanding blind spot in medical research — the historical overrepresentation of people of European ancestry in genetic studies, which has limited how broad discoveries can be applied. Through intentional recruitment and community partnerships, OneDukeGen is working to change that. 

"I learn something every time I meet with our community advisory groups," Shah said. "They make us better researchers." 

The larger and more diverse the dataset becomes, the more precisely researchers can identify the hidden patterns connecting genetics, environment, lifestyle, and disease — patterns that have long remained out of reach. 

Sharing Actionable Genetic Findings with Participants  

OneDukeGen is returning clinically actionable genetic findings directly to participants, a step many research programs avoid because of its complexity. For Shah, that’s not an option. 

"If we know someone carries a genetic variant that causes serious disease that is treatable," she said, "I think it's unethical not to tell them." 

That commitment is already reshaping clinical practice. Duke researchers have developed AI tools that analyze echocardiograms and electrocardiograms to detect cardiac amyloidosis — a serious, frequently overlooked condition — before symptoms become advanced.

It's exactly the kind of disease that once went unrecognized until it was too late: hiding in plain sight, in data that no one had the tools to read. Now specialized clinics monitor patients with high-risk genetic variants long before illness develops, intervening at the moment when intervention matters most. 

AI-assisted, not AI-autonomous 

Shah is careful not to oversell what technology can do.

"This is AI-assisted, not AI-autonomous," she said. "We're not replacing doctors or nurses. We're helping them be more effective." 

The tools are new. The mission isn't. From CathGen to OneDukeGen, from a fellow's quiet question to an institution-wide initiative, the through line has always been the same: turning data into discovery, and discovering better care for the person in front of you.

"Everything comes back to the patient," Shah said. "That's always been the goal." 

Liz Switzer is a communication specialist in the Office of Strategic Communications at Duke University School of Medicine. 

Eamon Queeney is assistant director of creative and multimedia in the Office of Strategic Communications at Duke University School of Medicine.