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Centro de Investigaciones Regionales Dr. Hideyo Noguchi, Universidad Autónoma de Yucatán

2001, Number 3

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Rev Biomed 2001; 12 (3)

Foundation and actuality about genetic counseling.

Pinto-Escalante D, Ceballos-Quintal JM, Castillo-Zapata I, López-Avila MTJ

Language: Spanish
References: 28
Page: 186-195
PDF size: 45.08 Kb.


ABSTRACT

Advances in the knowledge of mechanisms responsible for hereditary diseases, and the application of genetic principles in areas not common for geneticists, has widened the use of genetic counseling. For these reasons, there is now a higher number of families who look for genetic counseling because of congenital malformations, genetic disorders, and other causes such as cancer, psychiatric, neurodegenerative and cardiac disorders, multiple miscarriages, stillbirths, advanced age pregnancy, teratogen exposition and other risk factors. Genetic counseling is a communication process which deals with human problems associated with the occurrence, or the risk of occurrence and recurrence, of a genetic disorder in a family. It must be provided with impartiality in order to help the individual, or the family, to confront their situation in relation to the disease, by providing information to help them comprehend medical facts, heredity contribution to the disorder, and recurrence risks, so they can make wellinformed reasoned decisions.In this work we describe the principles which support genetic counseling, the characteristics of traditional genetic diseases (mendelian, chromosomic and multifactorial inheritance), new concepts (instability of the genome, mitochondrial inheritance, epigenetic changes), and teratogenic substances. Ethical principles in relation to this topic are discussed, and we make considerations about the need for the postgraduate education of health professionals trained to provide genetic counseling under the supervision of clinical geneticists.


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