Evolving cardiovascular genetic counseling needs in the era of precision medicine

Abstract

In the era of Precision Medicine the approach to disease diagnosis, treatment, and prevention is being transformed across medical specialties, including Cardiology, and increasingly involves genomics approaches. The American Heart Association endorses genetic counseling as an essential component in the successful delivery of cardiovascular genetics care. However, with the dramatic increase in the number of available cardiogenetic tests, the demand, and the test result complexity, there is a need not only for a greater number of genetic counselors but more importantly, for highly specialized cardiovascular genetic counselors. Consequently, there is a pressing need for advanced cardiovascular genetic counseling training, along with innovative online services, telemedicine, and patient-facing digital tools, as the most effective way forward. The speed of implementation of these reforms will be of essence in the translation of scientific advancements into measurable benefits for patients with heritable cardiovascular disease and their families.

Therapeutic Targets and Personalized Medicine in Cardiac Disease

“…The reported studies shed light on novel approaches towards a more personalized therapy against CVD that maximizes efficacy and minimizes detrimental side effects. It is anticipated that the continuously deeper understanding of the biology behind CVD, along with the striking and rapid technological advancements, will contribute to integrating personalized and targeted medicine in Cardiology [9,10].…”

Genotype-Phenotype Insights of Inherited Cardiomyopathies—A Review

“…This means that VUS can become likely pathogenic, or variants previously con-sidered likely pathogenic can be downgraded to VUS. Next-generation sequencing using a multi-gene panel is the best option for these diseases with heterogeneous genetic background, as they are technically feasible and cost-efficient [16]. These large gene panels have the advantage of increasing the odds of identifying a genetic etiology, especially in patients with uncertain phenotypes or without pathognomonic manifestations.…”

Cardiac Remodeling and Functional Changes in Patients With Hypertrophic Cardiomyopathy: A Longitudinal Observational Study

“…Several studies have investigated the baseline characteristics and clinical profiles of HCM patients [ 6 - 9 ] but there is limited data on the longitudinal changes in cardiac remodeling and functional parameters over time. Understanding the natural history of HCM and identifying factors associated with disease progression are crucial for optimizing patient management and developing targeted therapeutic interventions.…”