Hallazgos secundarios en la secuenciación del exoma según las recomendaciones del Colegio Americano de Genética Médica y Genómica (ACMG) en una muestra de la población colombiana
Thesis
Background: In the year 2017, The American College of Medical Genetics and Genomics (ACMG) published the second version of their secondary findings reporting recommendations, for cases in which a person receives a genetic test for another indication. We decided to determine, using a sample of the Colombian population, the prevalence of secondary findings for the 59 genes associated with 27 medical conditions that, due to their severity, if diagnosed opportunely, can be properly treated. Methods: An analytical cross-sectional study was carried out by examining 160 patients (exomes), between the ages of 1 and 79 years, coming from different Colombian regions. Annotation of the 59 genes with public databases was performed, and variants were classified using the criteria established in the guide issued by the ACMG and the Association of Molecular Pathology and, subsequently, the ones to be reported were selected. Results: Six variants in seven patients for genes BRCA2, COL3A1, LDLR, MYBPC3, PKP2, and PMS2 were identified, with a prevalence of 4,4%. No association was found between the sociodemographic variables and the secondary findings (P>0,05). Previous studies have found prevalences ranging from 0,59 to 21%. Conclusion: Given the prevalence found and the clinical impact of genomic variants on health, it is important to actively search for secondary findings so that the treating professional can, in turn, perform timely and relevant counseling and management of the patients and their family.
