Reference of this article: Díaz de Bustamante A. Update of Genetics in Pediatrics. Rev Pediatr Aten Primaria. 2002;4:261-279.
Published in Internet: 30-06-2002
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
Keywords● Genetic tests ● Genetics ● Informed consent