Enfermedades de origen genético en pacientes pediátricos hospitalizados en la provincia de Ubate, Colombia

Objective: Describing genetic disease frequency in a second-level hospital's in-patient paediatric service Methods: The hospital's statistical department's records for 2005 were comprehensively reviewed; the study was carried out in the town of Ubaté during 2006. Results: Complex diseases led to nearly 25 % of all hospitalisations, including multifactor diseases and congenital malformations. However, an aetiological study and/or geneticist consultation or referral took place on a few occasions. Conclusions: Primary care hospitals should become more relevant reference centres for detecting genetic diseases amongst the paediatric population. New mechanisms are needed for implementing this to allow patients access to a geneticist and for an aetiological diagnosis to be made and providing suitable genetic counselling.