Clinical screening and genetic testing.
Clinical screening is most effective in diseases in which the disease is in its earliest form and may not have symptoms or signs but can be readily diagnosed with an inexpensive, noninvasive test. This article discusses the general principles of genetic disease architecture that can guide screening and diagnostic approaches for all of the cardiomyopathies and inherited diseases. It addresses how the genetic architecture of the trait guides, and how clinical characteristics of the disease influence, a clinical screening approach.
Deo
Rahul C
RC
Cardiology Division, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA.
MacRae
Calum A
CA
D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000175:diagnosis / Q000235:genetics; D009202:Cardiomyopathies / Q000175:diagnosis / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D008403:Mass Screening / Q000379:methods; D025202:Molecular Diagnostic Techniques; D019683:Penetrance