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Jornal de Pediatria

Print version ISSN 0021-7557On-line version ISSN 1678-4782


PINA-NETO, João Monteiro de. Genetic counseling. J. Pediatr. (Rio J.) [online]. 2008, vol.84, n.4, suppl., pp.S20-S26. ISSN 0021-7557.

OBJECTIVE: The objective of this review of genetic counseling (GC) is to describe the current concepts and philosophical and ethical principles accepted by the great majority of countries and recommended by the World Health Organization, the stages of the process, its results and the psychological impact that a genetic disease has on a family. SOURCES: The concepts presented are based on an historical synthesis of the literature on GC since the 1930s until today, and the articles cited represent the most important research published which today provides the foundation for the theory and practice of GC. SUMMARY OF THE FINDINGS: The modern definition of GC is a process of communication that deals with the human problems related with the occurrence of a genetic disease in a family. It is of fundamental importance that health professionals are aware of the psychological aspects triggered by genetic diseases and the ways in which these can be managed. In the field of human and medical genetics we are still living in a phase in which technical and scientific aspects predominate, with little emphasis on the study of emotional reactions and people's processes of adaptation to these diseases, which leads to clients having a low level of understanding of the events that have taken place, with negative consequences for family life and for society. CONCLUSIONS: The review concludes by discussing the need to refer families with genetic diseases for GC and the need for professionals working in this area to invest more in humanizing care and developing non-directive psychological GC techniques.

Keywords : Genetic counseling; genetic diseases; primary prevention; psychological counseling; ethics and genetics; eugenics.

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