| | December 20218UTLOOKHealthcare Tech IN MY OPINIONThe promise of the human genome project was to create a means to understand human disease and target specific therapies; yet 20 years later, we are only just starting to see the glimmer of that promise being delivered. Cardiac genetic testing for dilated cardiomyopathy despite having a class 1 indication continues to be a widely underutilized tool. Many factors contribute to it underutilization, including the access to and costs of genetic testing; nevertheless the largest barrier continues to remain the ordering physician's opinion of "will this result in the change of management for this patient."Previously, genetic testing in cardiomyopathy only had the power to provide a definitive diagnosis and assist with understanding of disease progression. It primarily served to identify family members at risk.However, this is rapidly changing. Approval of therapeutics targeted to patients with a genetic cause for their cardiomyopathy are under development, in trial and in the case of transthyretin (TTR)cardiac amyloidosis, part of the new standard of care.Here we outline the rapid changes in seen in clinical practice following introduction of precision medicine therapeutics for TTR amyloidosis and what to look forward to in the next few years. Cardiac amyloidosis has been traditionally thought of as a rare disease with 3 distinct etiologies: AL amyloid, wild type (senile) TTR amyloidosis and mutant or hereditary TTR cardiac amyloidosis. Up until 5 years ago cardiac amyloid workup would include determining if the patient had AL amyloidosis and offering chemotherapy or TTR amyloidosis, The Rise of Genetics and Precision Medicine in CardiologyBy Bani M. Azari, MD, PhD, Medical Director, Program for Cardiac genetics, Genomics and Precision Medicine at Northwell Health and Assistant Professor, Department of Cardiology, North Shore University HospitalBani M. Azari
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