Resumo

ALONSO GORDO, José M.ª; SANCHEZ GONZALEZ, M.ª del Carmen; HERNANDEZ PEREZ, Natacha  e  CALVO ORDUNA, M.ª José. The possibilities of genetic counselling in primary healthcare. Rev Clin Med Fam [online]. 2014, vol.7, n.2, pp.118-129. ISSN 2386-8201.  https://dx.doi.org/10.4321/S1699-695X2014000200006.

Genetic counselling helps patients to take decisions in matters related to the possibility of suffering from or transmitting a certain disease genetically. Knowledge of the map of the human genome and technological developments make it possible to detect chromosomal alterations, Mendelian disease transmission, metabolic defects, markers of multiple diseases, which allow us to adopt preventive measures in order to improve our state of health, or of our descendants. In primary care consultations, we have at our disposal manifold opportunities to detect and even prevent diseases with a hereditary component although, on most occasions, referral to a specialized level will be necessary in order to carry out necessary tests and apply genetic counselling. In addition to technical and methodological components, there are multiple personal aspects which oblige us to be take special care of ethical issues involved in genetic counselling; confidentiality, right to proprietary or third party information, legal, psychological, social or work-related consequences, etc. In this article, it is our aim to collaborate so that primary care professionals are made more aware of the possibilities of genetic counselling and thus be able to inform and give proper guidance to their patients who are potentially affected by a disease with a genetic or hereditary component.

Palavras-chave : Genetic counselling; Genetic studies; Hereditary diseases; Primary healthcare.

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