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Heart Disease: Advancements from Anecdote to Science-Based Personalized Medicine

From Richard Chazal, M.D., Medical Director of the Heart and Vascular Institute for Lee Health

Despite the ravages of COVID-19 and fears associated with cancer, heart disease remains the number one killer in the world. Over millennia, diagnosis and treatment were based on the personal experiences of physicians, wise men and women, and trial and error. Beginning in the mid twentieth century, the term “evidence-based medicine” came into play, introducing the concept of using organized and accumulated sets of information to guide the probability of a diagnosis and the likelihood of a successful treatment.

Evidence-based medicine has led physicians, particularly in the cardiovascular/heart field, toward “randomized controlled trials,” where treatments are vigorously studied against either alternate strategies or against no treatment (placebo). This has brought the field of cardiology to levels that can statistically predict both correct diagnosis and treatment in most cases…and has led to a dramatic drop in the rate of cardiac deaths.

Advancements in human genetics, enabled by the breakthrough in sequencing the human gene code has now moved medicine closer to diagnosis and treatment based on the individual rather than statistical probability. Matching genetic sequences to specific diseases and treatments has begun in earnest and is enhanced by improved computing technology, including the use of computer “machine learning” or “artificial intelligence” (AI) to collate huge data sets to identify patterns that unlock needed answers.

The Heart and Vascular Institute at Lee Health is partnering with a digital health company, Cleerly, in parallel with similar efforts at other institutions, such as Indiana University College of Medicine, to move boldly toward individualized or “personalized medicine.” The program, called HeartHealth, is beginning to leverage information from computerized scans (CT scans) of the heart already in use. Information about the presence of atherosclerotic plaque in the heart arteries (the cause of heart attacks) is being analyzed and will be compared with genetic information from cheek swabs.

Detailed analysis of the amount and type of plaque in an individual’s arteries takes an expert cardiologist or radiologist up to nine hours to accomplish; the task can be done by computerized AI in minutes (soon to be seconds). Data already available have matched patterns of the plaque in arteries (not just the degree of blockages, but the volume and different forms of plaque) with the risk of developing a heart attack.

The first goal of the HeartHealth project is to identify plaque in arteries that might be treated early (usually with medicine) to prevent a heart attack. The second goal is to use the information accumulated from the studies amassed (anonymized for privacy) to develop sets of information that will lead toward better predictors of heart disease, with focused treatment for those at risk, and avoidance of unneeded treatment in those not at risk.

As information about the use of artificial intelligence to help diagnosis and treatment and Lee Health’s HeartHealth Program emerge, the community can expect exciting developments. In the very near future, scans of the heart will further improve the ability to prevent heart attacks. In the not-too-distant future, a cheek swab for genetic testing may even suffice.