Facing the challenges to shorten the diagnostic odyssey: first Whole Genome Sequencing experience of a Colombian cohort with suspected rare diseases.

Exome and genome sequencing (ES/GS) are routinely used for the diagnosis of genetic diseases in developed countries. However, their implementation is limited in countries from Latin America. We aimed to describe the results of GS in patients with suspected rare genetic diseases in Colombia. We studied 501 patients from 22 healthcare sites from January to December 2022. GS was performed in the index cases using dried blood spots on filtercards. Ancestry analysis was performed under iAdmix. Multiomic testing was performed when needed (biomarker, enzymatic activity, RNA-seq). All tests were performed at an accredited genetic laboratory. Ethnicity prediction data confirmed that 401 patients (80%) were mainly of Amerindian origin. A genetic diagnosis was established for 142 patients with a 28.3% diagnostic yield. The highest diagnostic yield was achieved for pathologies with a metabolic component and syndromic disorders (p < 0.001). Young children had a median of 1 year of diagnostic odyssey, while the median time for adults was significantly longer (15 years). Patients with genetic syndromes have spent more than 75% of their life without a diagnosis, while for patients with neurologic and neuromuscular diseases, the time of the diagnostic odyssey tended to decrease with age. Previous testing, specifically karyotyping or chromosomal microarray were significantly associated with a longer time to reach a definitive diagnosis (p < 0.01). Furthermore, one out of five patients that had an ES before could be diagnosed by GS. The Colombian genome project is the first Latin American study reporting the experience of systematic use of diagnostic GS in rare diseases.

Neuronavegacion: Experiencia en biopsia intracraneana / Neuronavegation: the experience with brain biopsies in neurosurgycal service in Bogota

Introducción. La continua evolución de las aplicaciones tecnológica permite ofrecer a los pacientes procedimientos, cada vez menos cruentos, más seguros y de mejor costo-efectividad. Tal sucede con la cirugía guiada por imágenes TAC; RM; angiografia etc., también denominada neuronavegación. Objetivo: Presentar la experiencia del servicio de neurocirugía del Hospital Central de la Policía (HOCEN) de Bogotá en la obtención de biopsias cerebrales por neuronavegación. Material y Métodos. Se utilizó el sistema Vectorvisión, en el cual se cargan los estudios previo del paciente (TAC, RM;angiografia efe) para obtener mediante neuronavegación biopsias cerebrales que permitieron concretar el diagnóstico de diversas lesiones del sistema nervioso central. Se comparó el rendimiento del sistema de neuronavegación mediante el Vectorvisión, con el de biopsia estereotáctica (guiada por TAC} realizado en el mismo servicio. Resultados. De 125 procedimientos guiados por imágenes 64 fueron biopsias, 15 de las cuales se realizaron con el Vectorvison; la duración promedio de este procedimiento fue de 100 minutos (DS 27,22) menor que la requerida para una biopsia estereotáctica. Se hizo diagnóstico hispatopatológico en todos los casos, con una baja tasa de complicaciones (4,7 por ciento).