Aconselhamento genetico e prevenção da cegueira : percepção e conduta de oftalmologistas e pacientes portadores de deficiencia visual / Genetic counseling and prevetion of blindness : perception and conduct of brazilian ophtalmologists and patients with visual impairement

AUTOR(ES)
DATA DE PUBLICAÇÃO

2006

RESUMO

This study verified the perception and behavior of Brazilian ophthalmologists in relation to hereditary eye diseases and the contribuition of Genetics in their routine practice; and verified the perception and behavior of patients with severe visual impairment and the contribuition of genetic counseling in their lives. Invitations were posted to 200 ophthalmologists, who practice in the area of Campinas, SP, Brazil, to participate in an interview concerning their knowlegde, behavior and opinions in the field of Genetics. Patients sample was composed of 53 individuals with severe visual impairment (visual acuity of less than 0.3 in the better eye with the best correction) caused by genetic factors. The interviews were held in a university hospital over a period of 18 months. The multiple-choice questionnaire applied permitted statistical analysis, for proportion comparisons and associative tests. A control sample composed of 142 normal patients siblings was also examined to compare some social integration indicators - mainly the establishment of stable couples and reproduction. Of the 73 professionals who answered the questionnaire (36%), the percentage of affirmative responses regarding basic genetic knowledge was high (49% to 88%) but the application of this knowledge to regular clinical routine was poor (10% to 33%). Only 45% of the individuals with hereditary ophthalmopathies received genetic counseling, which was usually offered by the ophthalmologist. Referrals to the genetic service consisted of 25% of the cases. The variable genetic couseling, together with others such as female sex and those having a higher educational level, significantly influenced alterations in family planning. Although they had poor access to the establishment of stable conjugal unions, they had children in the same proportion as their normal siblings. This fact underscores the importance of genetic counseling. The therapeutic and preventive potential of genetic counseling in the prevention of blindness is not adequately used. Discussions on genetics held with Brazilian ophthalmologists and the community about the use of this potential, for the benefit of patients, through genetic counseling, should be more pragmatic and less theoretical

ASSUNTO(S)

olhos - doenças hereditarias cegueira atitudes e pratica em saude genetic counseling aconselhamento genetico conhecimentos blindness olhos - doenças eye health knowledge practice attitudes eye

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