Clauden Louis1, Emily Calamaro2, Jeffrey M Vinocur2. 1. Department of Surgery. 2. Department of Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.
Abstract
PURPOSE OF REVIEW: The modern field of clinical genetics has advanced beyond the traditional teachings familiar to most practicing cardiologists. Increased understanding of the roles of genetic testing may improve uptake and appropriateness of use. RECENT FINDINGS: Clinical genetics has become integral to the management of patients with hereditary arrhythmia and cardiomyopathy diagnoses. Depending on the condition, genetic testing may be useful for diagnosis, prognosis, treatment, family screening, and reproductive planning. However, genetic testing is a powerful tool with potential for underuse, overuse, and misuse. In the absence of a substantial body of literature on how these guidelines are applied in clinical practice, we use a case-based approach to highlight key lessons and pitfalls. Importantly, in many scenarios genetic testing has become the standard of care supported by numerous class I recommendations; genetic counselors can improve accessibility to and appropriate use and application of testing. SUMMARY: Optimal management of hereditary arrhythmias and cardiomyopathies incorporates genetic testing, applied as per consensus guidelines, with involvement of a multidisciplinary team.
PURPOSE OF REVIEW: The modern field of clinical genetics has advanced beyond the traditional teachings familiar to most practicing cardiologists. Increased understanding of the roles of genetic testing may improve uptake and appropriateness of use. RECENT FINDINGS: Clinical genetics has become integral to the management of patients with hereditary arrhythmia and cardiomyopathy diagnoses. Depending on the condition, genetic testing may be useful for diagnosis, prognosis, treatment, family screening, and reproductive planning. However, genetic testing is a powerful tool with potential for underuse, overuse, and misuse. In the absence of a substantial body of literature on how these guidelines are applied in clinical practice, we use a case-based approach to highlight key lessons and pitfalls. Importantly, in many scenarios genetic testing has become the standard of care supported by numerous class I recommendations; genetic counselors can improve accessibility to and appropriate use and application of testing. SUMMARY: Optimal management of hereditary arrhythmias and cardiomyopathies incorporates genetic testing, applied as per consensus guidelines, with involvement of a multidisciplinary team.
Authors: Hanne M Boen; Bart L Loeys; Maaike Alaerts; Johan B Saenen; Inge Goovaerts; Lut Van Laer; Anne Vorlat; Tom Vermeulen; Constantijn Franssen; Patrick Pauwels; Inez Rodrigus; Hein Heidbuchel; Emeline M Van Craenenbroeck Journal: J Heart Lung Transplant Date: 2022-04-09 Impact factor: 13.569