Knowledge about family planning methods

Facilitator Guide for Community-based Health and First Aid

Genetic counseling

Luisa Politano * and Filippo Maria Santorelli **

The scientific advances of recent decades have given a major boost to the knowledge of the biological bases of many hereditary diseases. In particular, studies on DNA have identified the molecular defects of many neuromuscular diseases, allowing the development of genetic tests specific to a certain diagnostic confirmation in the post-natal period and to use the knowledge for a more accurate prenatal diagnosis .
Nonetheless, it is still large group of neuromuscular diseases for which the knowledge of the clinical characteristics and modes of transmission are not substantiated by a certain molecular, making the DNA studies are still incomplete and approximate.
Finally, there are many genetic diseases defined complex - probably the most widespread in the general population, such as diabetes and cardiovascular diseases - that are the result of the alteration of several genes which, together with environmental factors, contribute to the development of the disease. For they are not available at the time specific genetic testing.
In these diseases - as well as in those pathological conditions - patients and their families at risk are entitled to the best possible knowledge of the molecular basis of the disease, its mode of transmission and how all this is reflected in their programming choices of life and family.

Genetic counseling is a communication process by which patients with a genetically determined disease, or their families, receive information concerning the characteristics of the disease, methods of transmission, the risk of recurrence and possible therapies, including reproductive options that are relevant to their condition.
The process of knowledge and information must be led by geneticist consultant, a graduate in medicine and surgery, with particular experience in the industry and knowledge of the disease, usually a specialist in Medical Genetics, which can draw on the expertise of other medical professional (molecular biologists; cytogeneticists; specialized branches of competence of the disease or its comorbid factors °; psychotherapeutic services and welfare).
The cognitive process of genetic counseling involves the stages of understanding of the patient's medical history, including the diagnosis, the disease and the risk of recurrence in his family, regardless of the degree of kinship. It is also useful to understand how and how much the legacy contributes to the clinical manifestations of the disease, to understand the options available to address the risk of recurrence and the type of appropriate action in the light of the specific risk, and family planning targets required by the subject.


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