No abstract
RESUMENEl Consejo genético ayuda a los pacientes en la toma de decisiones en aspectos relacionados con la posibilidad de padecer o transmitir una enfermedad determinada genéticamente. El conocimiento del mapa del genoma humano y los desarrollos tecnológicos hacen posible detectar alteraciones cromosómicas, enfermedades con transmisión mendeliana, defectos metabólicos, marcadores de múltiples enfermedades, que nos permiten adoptar medidas preventivas para mejorar nuestro estado de salud o el de nuestros descendientes. En las consultas de Atención Primaria disponemos de múltiples oportunidades para poder detectar e incluso prevenir enfermedades con componente hereditario, no obstante, en la mayoría de las ocasiones será necesario derivar al escalón especializado para la realización de las pruebas necesarias y la aplicación del consejo genético. Además de los componentes técnicos y metodológicos, existen múltiples aspectos personales que obligan a ser especialmente cuidadosos con los aspectos éticos en la aplicación del consejo genético: confidencialidad, derecho a la información propia o de terceros, consecuencias legales, psicológicas, sociales o laborales, etc. Pretendemos con el presente artículo colaborar a que los profesionales de Atención Primaria conozcan mejor las posibilidades del consejo genético y, en consecuencia, puedan informar y orientar adecuadamente a sus pacientes potencialmente afectos de alguna enfermedad con componente genético o hereditario.Palabras clave: Consejo genético. Estudios genéticos. Enfermedades hereditarias. Atención Primaria. ABSTRACT The possibilities of genetic counselling in primary healthcareGenetic 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 workrelated 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.
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