Precision Medicine is emerging as a vital partner in the field of medicine, specifically in cardiovascular care. With scientific developments, health care is more reliant on the precision and predictability of health care findings and management. This past year has been significant in the world of precision medicine, especially with the preliminary release of data from the All of Us project.

Under the American College of Cardiology’s (ACC’s) directive to inform, educate and update cardiovascular care providers, the ACC’s Evolving Practice of Cardiovascular Precision Medicine  virtual course was held on May 13. With the guidance of course co-directors, Akl Fahed, MD, FACC, and Regina Druz, MD, FACC, a planning committee of seven cardiologists and scientists were assembled to create the objectives and course curriculum based on updated developments related to precision medicine. They invited renowned specialists, and scientists in artificial intelligence, genomics, and nutrition from across the country who joined in the six-hour course discussion on a variety of topics.

Here is a look at the highlights from each of the sessions, as well as the vibrant fireside chat that kicked off the program:

Fireside Chat – with Josh Denny, MD, MS and Geoff Ginsberg, MD, PhD, FACC

The Fireside Chat featured a moderated discussion between Fahed and the founders of the All of Us Research Program through the National Institutes of Health. As a brief introduction, All of Us was initiated in 2015 with the goal of the building one of the most diverse health databases in history, targeting one million patients. Data gathered from a variety of sources included electronic health records, wearable devices, biometric data capture, and patient surveys that focused on diet and lifestyle, among other things.

To date, All of Us has been quite successful, accruing about 500,000 patients since its initiation. It is obvious, upon further discussion, that All of Us excels at diversity, as well as engagement with patients. Striving to capture diversity within both its patient population, as well as its researchers, the program is collaborating with traditionally African American schools, and other non-white populations, with 70-80% of patients being from a non-Caucasian background. Additionally, the program has been able to achieve a high yield of engagement with patients receiving both genetic and non-genetic results. Researchers have been able to identify 59 actionable genomics, including expansion into pharmacogenetics.

However, as All of Us founder Denny notes, genomics medicine is still in its infancy with a lot more data to be gathered and further expansion to be had. It is predicted that in the next 10 years, genetic testing might become commonplace; however he says more results from All of Us are still needed. The paradox is that large and diverse data sets are needed to diagnose and treat that one rare disease. The Genetic Information Nondiscrimation Act prevents insurance from discriminating against those with an identified genetic disease. Life insurance is an exception but there are resources to help circumvent that restriction.

All of Us founders encouraged researchers to join the program, which can be accessed at AllOfUs.nih.gov.

Genomic Medicine: A Patient’s Journey

Following the excellent fireside chat, Amy Strum, MS, and Philip Empey, PharmD, PhD, started off the genomic medicine section, with an introduction to the application of genomic medicine for today’s and tomorrow’s cardiovascular patients. Discussion revolved around multiple guidelines, and how they help guide medical, and surgical management for these patients.

The lecturers – including Deanna Brockman, MS, CGC, Iftikhar Kullo, MD, FAAC, and Aniruddh Patel MD - expertly weaved through a patient case, starting with a “how to” construct a polygenic risk score to the application of the polygenic score to the case study and reporting. They seamlessly incorporated the patient case presentation and demonstrated the effect of polygenic risk scores. A common thread in all three parts of the workshop was that the polygenic risk score was one risk factor of many that needed to be considered, and had some limitations, especially when applying to patients of non-European ancestry. This generated a discussion on the usage of pharmacogenetics, especially with the use of the CPIC guidelines to help guide CYP12 inhibitors usages following PCI. In summary, the key takeaways are:

• Guidelines, scientific statements, and position papers for genetic testing across many CVD phenotypes exist.
• Guidelines for the use of pharmacogenetic results exist and testing is being broadly implemented today.
• Polygenic score is one risk factor out of many for CVD.
• Designing a risk communication strategy is based on program goals, audience, and capabilities of platform, including limitations, especially regarding certain ancestry. CHD PRS is not portable to AA but perform reasonably well in Asians.
• Polygenic risk score can be modified (not deterministic).
• CPIC is the key resource to help facilitate successful implementation of pharmogenetics.
• Genetic testing is useful for clarifying diagnosis, informing cascade screening, and impacting clinical management. Consider testing unambiguously affected individuals with concern for hypertrophic, dilated, arrhythmogenic, and restrictive cardiomyopathy.

Artificial Intelligence (AI)

The next section of the meeting moved onto AI-guided devices, and the application to future patients. Partho Sengupta, MD, FACC started off the session with a strong discussion on the exponential growth of artificial intelligence, especially during the COVID-19 pandemic, before looking at the future of AI over the next 30 years. Damini Dey, PhD, then further discussed AI in imaging, including its use as a clinician’s tool, recommendations for pilot testing, providing feedback to the vendor, as well as reimbursement and liability issues.

Paul Friedman, MD, FACC highlighted the process and application of AI-guided ECG, including its application to a variety of cardiovascular diseases, atrial fibrillation to dilated cardiomyopathy, and to non-cardiac diseases like cirrhosis.

This led to a panel discussion headed by Evan Muse, MD, PhD, FACC and Megan Pelter, MD. The discussion included Ravi Parikh, MD and Maulik Majmuder, MD, who provided excellent lectures for the extended content of the conference. A lively discussion ensued on liability risk, usages of AI by fellows, and the future of AI.

Key takeaways include:

• There is significant growth in AI, in particular AI imaging, and arrhythmia management.
• Current usage of AI is limited; however, in years to come, this may evolve to higher capacity of computation.
• The goal of AI-guided devices, especially ECG, is to diagnose disease prior to any phenotype manifestations
• AI-guided ECG usages did not increase number of echoes but improved the selection of patients who underwent TTE.
• AI ECG can now be used to predict dilated cardiomyopathy, aortic stenosis, and atrial fibrillation, as well as cirrhosis.
• Usage of AI in image acquisition, in particular CT, allows for more detailed images.
• Explainability and external validity are important, as is reimbursement and liability.

Precision Medicine gets personal

Druz kicked-off the last session, with a discussion on the difference between precision and personalized medicine. She delved further into the definition of precision medicine, while panelist Salim Hayek, MD, FACC, explored the difference between omics, ranging from genomics to metabolomics. He also discussed some of the big trials in the omics world, and the importance of validation.

ACC Past President Kim Williams, Sr., MD, MACC then discussed the gut microbiome and its role in precision medicine, and in particular with cardiology. He also illustrated the need to advocate for risk factor reduction, whenever possible, and improve our microbiome to reduce TMAO level, and mortality. David Katz, MD, MPD, built on the microbiome discussion by talking more about nutrition and how diet quality remains the single leading predictor of mortality. Additionally, he discussed the usage of the diet map and app, which help personalized nutrition not only on health behaviors, but also cultural aspects.

The main key takeaways:

• Precision medicine is clinical medicine, and a patient-physician partnership.
• Omics are diverse- ranging from genomics to metabolomics, and it is important to read these big trials and validate.
• Plant-based diets are associated with lower rates of obesity and diabetes.
• Advocacy for risk factor reduction whenever and wherever possible is important if we want to improve our microbiome to reduce mortality associated with nutrition-related illnesses.
• Diet quality is the single leading predictor of mortality and chronic disease risk.
• The usage of dietary changes involves diversity and cultural behavior.

Watch On Demand

In summation, the subject of precision medicine is a developing area of cardiovascular science, indicative of future and continued educational and informational updates. The ACC is committed in bringing precision medicine to the forefront of discussions, recognizing its important and quickly growing role in cardiovascular medicine. The Evolving Practice of Cardiovascular Precision Medicine virtual course is available on demand through Aug. 14. Don’t miss out! Learn more and register.

Clinical Topics: Arrhythmias and Clinical EP, Cardiovascular Care Team, COVID-19 Hub, Heart Failure and Cardiomyopathies, Invasive Cardiovascular Angiography and Intervention, Prevention, Valvular Heart Disease, EP Basic Science, Genetic Arrhythmic Conditions, Atrial Fibrillation/Supraventricular Arrhythmias, Interventions and Structural Heart Disease, Diet

Keywords: Precision Medicine, Artificial Intelligence, Atrial Fibrillation, COVID-19, Cardiomyopathy, Dilated, Cardiomyopathy, Restrictive, Cardiovascular Diseases, Electronic Health Records, Gastrointestinal Microbiome, Percutaneous Coronary Intervention, Pharmacogenetics, Rare Diseases, Population Health, Genomics, Delivery of Health Care, National Institutes of Health (U.S.), Chronic Disease, Health Behavior, Wearable Electronic Devices, Aortic Valve Stenosis, Genetic Testing, Metabolomics, Biometry, Phenotype, Diabetes Mellitus, Obesity, Diet, Electrocardiography, SARS-CoV-2

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