Incidental and secondary findings in trio exome sequencing

作     者：Camille Cohen Emeline Bellanger Jeremie Mortreux Laure Raymond Francois Vialard Rodolphe Dard Camille Cohen;Emeline Bellanger;Jeremie Mortreux;Laure Raymond;François Vialard;Rodolphe Dard

作者机构：Department of GeneticsCentre Hospitalier Intercommunal de Poissy-Saint-Germain-en-LayePoissy 78300France RHuMAUMR-BREEDINRA-ENVA-UVSQMontigny le Bretonneux 78180France Service de GenetiqueLaboratoire Eurofins BiomnisLyon 69007France 

出 版 物：《Genes & Diseases》 (基因与疾病（英文）)

年 卷 期：2024年第11卷第4期

页      面：152-154页

核心收录：

学科分类：0710[理学-生物学] 07[理学] 071007[理学-遗传学] 

主　　题：routine clinical finding 

摘      要：Exome sequencing(ES)generates secondary findings(SFs)in 2%of tested individuals if one follows the American College of Medical Genetics and Genomics(ACMG)guide-lines.i,z2 However,the rate of incidental and secondary findings(ISFs)is higher in routine clinical practice because of(i)the use of trio ES instead of solo sequencing and(i)the exclusion of the incidental findings(IFs)of medical value concerning genes in the ACMG ***,it is not clear how sufficient is a restricted list of genes to detect every ISF of major clinical value;and what is the amount of additional workload for the laboratory.