Using Genetic Tools to Prevent Disease
Svati Shah, MD, MHS’05, HS’01-’05, is the Ursula Geller Distinguished Professor of Research in Cardiovascular Diseases, associate dean for translational research, and the director of the Center for Precision Health. She’s been interested in genetic risk factors since her cardiology fellowship at Duke, where she saw how heart attacks tended to run in families. She has, she says, “a passion for using genetics to improve patient health.”
I started an adult cardiovascular genetic clinic 12 years ago, and we are also starting a clinic for people who carry a genetic mutation that puts them at risk for cardiac amyloidosis. We have made some big advances, but I think we’re at a critical point for some more advances.
I’m directing a 10-year research program called OneDukeGen, where we’re doing genetic sequencing on 150,000 Duke patients. A lot of research and a lot of data will come out of this, but the piece I’m excited about is we’re going to identify patients who have medically actionable genetic variants and we’re going to tell them about it. We’ll make sure they have adequate counseling and ways to get the care they need.
My dream is that in 20 years, everybody gets genetic sequencing as soon as they are born — we can identify their risk of disease, and we will have health system care paths that ensure equitable access to the care they need.
In the future, I envision that you’re going to be able to safely gene edit for some of these diseases. For others, the computer will remind a doctor when patients are carrying a genetic variant that puts them at risk for certain cancers or makes them more susceptible to anesthesia problems, for example.
That’s my dream: Instead of the trial-and-error way we currently practice medicine, we’ll have a much more precise way that we deliver care and, hopefully, prevent disease entirely.
What Comes Next:
- Neuroscience: Using New Technologies to Understand the Brain
- Medical Education: Training Students to be Change Agents
- Vaccines: Fine-tuning Immune Response
- Geriatric Medicine: Caring for the Aging Brain
- Health Equity: Addressing Disparities in Pallative Care
- Cancer Research and Care: Personalized and More Effective Therapies
- Epidemiology and Population Health: Reaching Beyond Our Walls
- Integrative Immunobiology: Unraveling the Mysteries of the Human Immune System
Story originally published in DukeMed Alumni News, Fall 2024.
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