Key result
Molecular genetics and genetic testing play an increasingly important role in the diagnosis, prognosis, and clinical management of inherited cardiovascular diseases.
This review provides an educational overview of basic molecular genetics concepts to facilitate their understanding and application in clinical cardiology.
Supports clinician education on genetic testing in inherited CVD; leaves open need for prospective validation studies.
Genetics have undoubtedly become an integral part of biomedical science and clinical practice, with important implications in deciphering disease pathogenesis and progression, identifying diagnostic and prognostic markers, as well as designing better targeted treatments. The exponential growth of our understanding of different genetic concepts is paralleled by a growing list of genetic terminology that can easily intimidate the unfamiliar reader. Rendering genetics incomprehensible to the clinician however, defeats the very essence of genetic research: its utilization for combating disease and improving quality of life. Herein we attempt to correct this notion by presenting the basic genetic concepts along with their usefulness in the cardiology clinic. Bringing genetics closer to the clinician will enable its harmonious incorporation into clinical care, thus not only restoring our perception of its simple and elegant nature, but importantly ensuring the maximal benefit for our patients.
No takes yet. Share an insight, caveat, or question.
Kassem et al. (2012) conducted a review in Cardiovascular disease. Molecular genetics and genetic testing play an increasingly important role in the diagnosis, prognosis, and clinical management of inherited cardiovascular diseases.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: