Author(s): Iacocca, Michael A. ; Chora, Joana ; Rivera, E. Andy ; DiStefano, Marina T. ; Carrie, Alain ; Sijbrands, Eric J. ; Defesche, Joep ; Freiberger, Tomas ; Knowles, Joshua W. ; Hegele, Robert A. ; Bourbon, Mafalda
Date: 2017
Persistent ID: http://hdl.handle.net/10400.18/4871
Origin: Repositório Científico do Instituto Nacional de Saúde
Subject(s): Familial Hypercholesterolemia; Cardiovascular Disease; Doenças Cardio e Cérebro-vasculares
Background: - The successes of clinical genetics rely on accurate variant interpretation for the purpose of informing diagnosis and treatment: - However, this practice is often rudimentary and differs among diagnostic laboratories, leading to inconsistencies in pathogenicity classification; - In response, the Clinical Genome Resources (ClinGen) consortium approves expert panels to recommend disease-specific guidelines to achieve evidence-based, standardized variant curation practice. Familial Hypercholesterolemia (FH) Working Group: - FH is a prevalent monogenic disorder, affecting ~1/250 individuals; - It is characterized by extreme LDL cholesterol levels and premature atherosclerosis causing cardiovascular disease; - Genetic testing is increasingly offered worldwide as a central part of diagnosis.
