Genetic testing and counseling for hereditary neurological diseases in Mali

Abstract

As genetic advances become incorporated into health care delivery, disparities between developing and developed countries may become greater. By addressing genetic health care needs and specific differences of developing countries, these disparities may be mitigated. We sought to describe the attitudes and knowledge of subjects with hereditary neurological diseases in Mali before and after receiving genetic testing and counseling for the first time. A questionnaire of attitudes and knowledge items was adapted and piloted for use in Mali. We found that the majority of subjects had positive attitudes toward genetic testing and counseling, both before and afterwards. Subjects responded to approximately half of the knowledge questions regarding hereditary transmission correctly before and after genetic testing and counseling. Neither overall attitudes nor knowledge scores changed significantly from baseline. Concerns about confidentiality were expressed by the majority of subjects. These findings indicate that, despite limited knowledge of patterns of inheritance, Malians understood the sensitive nature of this information and were favorable toward receiving genetic testing and counseling for diagnostic and prognostic purposes.

Fig. 1

Flow diagram of study, including results of genetic testing with counseling (GT & GC). Although only one proband per family was tested, often each family had more than one affected individual, as reflected by the middle boxes. For the final sample of 31 adults who responded to the questionnaire, the relationship to the tested, affected individual in the family is shown in the box furthest to the right

Fig. 2

Percentages of subjects who agreed with individual items on the attitudes scale

Fig. 3

Percentages of subjects’ attitudes regarding stigma

Fig. 4

Percentage of genetic knowledge items answered correctly