Update of Genetics in Pediatrics

The rapid advance in genetics is providing genetic tests for many diseases. But it is necessary a proper training for the professionals, since they can be involved more frequently in the management of genetic diseases. Sometimes we will face a disease in which the responsible gene or mutations are not known, in that case we just will be able to offer genetic counselling. If the responsible gene is known we can request genetic test. In this paper, a review of the questions to bear in mind before requesting a genetic test is discused: professionals must update in the genetic etiology of the disease that are handling, suitable genetic tests, information provided by the genetic test, if the available clinical tests satisfy our needs, the location of the laboratory that is going to perform the test, kind of test: confirmation of clinical suspicion, predictive, predisposition, carrier, prenatal, the implications in other members of the family, the predictive power of the test, possibility of therapy or prevention, informed consent, interpretation of the results and follow-up.