Heart disease can sometimes be a silent killer. Many of us know seemingly healthy people who’ve suddenly or unexpectedly had a heart attack. It can be shocking when people who are at a a healthy weight and exercise regularly die from heart disease that they never knew they had. Many forms of heart disease can be prevented or treated with healthy lifestyle changes. Physicians are turning to genetic testing to help identify whether a patient is at risk for developing the disease or to detect and treat it early.

Mayo Clinic researchers have developed practical approaches that physicians can use to bring precision medicine care to their patients with heart disease, a leading killer in America. John Giudicessi, M.D., Ph.D., Iftikhar Kullo, M.D., and Michael Ackerman, M.D., Ph.D. outline these clinical guidelines in their paper Precision Cardiovascular Medicine: State of Genetic Testing in the April 2017 issue of Mayo Clinic Proceedings.

Dr. John Giudicessi

The authors highlight the importance of creating the guidelines to help guide patient care.

“As genomic testing has become more affordable, faster and more accessible, both physicians and patients have many questions. Which genetic tests should be used? What do the genetic test results mean for patients and their family members? The clinical guidelines we have assembled will help physicians understand how to use current genomic knowledge to provide the best care for their patients. This can help physicians diagnose heart disease earlier, before the patient, and in some cases other family members, experience a life threatening event like a heart attack, ” explain the researchers.

Genomics – improving care for cardiovascular disease

Genomics has already played a key role in providing individualized care for many patients with cardiovascular diseases.

The Mayo researchers highlight these areas where precision medicine has led to improved prevention, screening, earlier diagnosis and treatment for patients, and in many cases, their family members:

• Familial cardiovascular disease: Genetic testing has helped identify familial cardiovascular diseases that result in heart rhythm disturbances, thickening/dilation of the heart’s lower chambers, and high cholesterol. These tests help physicians diagnose and treat inherited heart diseases in patients and also screen family members as young as eight years old for the condition.

• Increased risk for common heart diseases: Researchers have discovered many genetic variants that lead to increased risk for developing common cardiovascular diseases such as coronary heart disease and atrial fibrillation. By identifying whether a patient has these genetic variants, physicians can then recommend additional screening and lifestyle changes to prevent the need for heart surgery down the road or to diagnosis and treat the condition sooner.

• Drug-gene interactions: Pharmacogenomics tests have been developed to identify genetic variants that can impact how patients process medications to treat cardiovascular diseases. These tests help physicians select the right drug and dosage of medications to maximize the benefit and reduce the chance for harmful, sometimes life threatening side effects.

Team approach – ensures the maximum benefit

Dr. Iftikhar Kullo

The Mayo researchers emphasize the importance of using a multidisciplinary team to select the appropriate genetic tests and interpret test results for each patient. The team should include coordinated care from cardiologists, genetic counselors and medical geneticists.

Why is this team approach so important? Because as the authors explain, when it comes to genetic testing, one size does not fit all.

“A ‘one size fits all’ mentality to genetic testing is not advised. Genetic testing should be used only if the medical team suspects that a patient has an underlying genetic cardiovascular disease after performing a thorough clinical evaluation, which should include a detailed family history and comprehensive cardiovascular testing,” explain the authors.

Dr. Michael Ackerman

Once testing is complete, the team plays a critical role in interpreting test results for each patient. Many genetic tests generate large amounts of data that often contain ambiguous or uncertain findings. Medical geneticists and genetic counselors can help identify which test results can be used to guide patient care and when a patient’s family members need screening for heart disease. Team members work with the patients and their families through every step of the genetic testing process.

Mayo Clinic Proceedings Symposium on Precision Medicine 

This paper is the third in Mayo Clinic Proceedings Symposium on Precision Medicine, a series of articles that cover a wide range of topics in personalized medicine. Watch for upcoming articles in the symposium, which will focus on how personalized medicine and genomics are impacting patient care. Learn more about the series.

John Giudicessi, M.D., Ph.D, is a resident in the Department of General Internal Medicine at Mayo Clinic’s campus in Rochester, Minnesota.

Iftikhar Kullo, M.D, . professor of Medicine and consultant in the Department of Cardiovascular Diseases at Mayo Clinic’s campus in Rochester, Minnesota.

Michael Ackerman, M.D., Ph.D. professor of Pharmacology, Medicine and Pediatrics and consultant in the Department of Cardiovascular Diseases and Department of Pediatrics and Adolescent Medicine at Mayo Clinic’s campus in Rochester, Minnesota.

Attend 2017 Individualizing Medicine Conference

Hear world-renowned experts discuss the latest research in precision medicine and how it can be applied to improve treatments for many conditions at Individualizing Medicine 2017: Advancing Care Through Genomics.

The Mayo Clinic Center for Individualized Medicine, is hosting the sixth annual genomics conference, October 9–10, in Rochester, Minnesota.

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