Use of contemporary genetics in cardiovascular diagnosis.

Abstract

An explosion of knowledge about the genetic and genomic bases for rare and common diseases has provided a framework for revolutionizing the practice of medicine. Achieving the reality of a genomic medicine era requires that basic discoveries are effectively translated into clinical practice through implementation of genetic and genomic testing. Clinical genetic tests have become routine for many inherited disorders and can be regarded as the standard of care in many circumstances, including disorders affecting the cardiovascular system. New high-throughput methods for determining the DNA sequence of all coding exons or complete genomes are being adopted for clinical use to expand the speed and breadth of genetic testing. Along with these extraordinary advances have emerged new challenges to practicing physicians for understanding when and how to use genetic testing and how to appropriately interpret test results. This review will acquaint readers with general principles of genetic testing, including newer technologies, test interpretation, and pitfalls. The focus is on testing genes responsible for monogenic disorders and on other emerging applications such as pharmacogenomic profiling. The discussion is extended to the new paradigm of direct-to-consumer genetic testing and the value of assessing genomic risk for common diseases. Genetic testing is a specialized diagnostic procedure that can be performed by commercial and research laboratories. However, in the United States, clinical genetic testing laboratories must meet stringent criteria for quality standards that conform to the federal Clinical Laboratory Improvement Amendments (referred to as CLIA).1 Most research laboratories operate without Clinical Laboratory Improvement Amendments certification, and data generated in this setting are not strictly appropriate for inclusion in patient medical records or for making clinical decisions. Discoveries made by research laboratories should be confirmed by a Clinical Laboratory Improvement Amendments–certified clinical genetics laboratory if the results are meaningful to patient care. Unlike commonly used …