Genetic testing of familial hypercholesterolemia (FH). Although awareness of familial hypercholesterolemia (FH) is increasing, this common, potentially fatal, treatable condition remains underdiagnosed. Despite FH being a genetic disorder, genetic testing is rarely used. With costs of next-generation DNA sequencing continuing to fall, genetic testing for FH has become more accessible. Most importantly, genetic testing provides a window of opportunity whereby we can identify those individuals at significantly higher risk than the general population for CAD at a given LDL-C level. Early recognition of FH leading to guideline-based therapy will alter the natural history of this highly morbid genetic condition. Read the full article
