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.

Genetics of low spinal muscular atrophy carrier frequency in sub‐Saharan Africa

“…The low SMA carrier frequency we found in this population is consistent with the apparent rarity of SMA in Mali. 10 The cause of high SMN1 copy number in sub-Saharan Africans relative to Eurasians remains to be determined, although our findings exclude such possibilities as gene conversion, selective pressure due to malaria resistance, and locus duplication. SMN1 to SMN2 gene conversion has been reported in SMA patients with late onset disease, milder phenotype, or both.…”

“…6 Recent data suggest that the SMA carrier frequency is lower in persons of black African ancestry in Cuba, 7 South Africa, 8 and the United States. 9 Despite the abundance of other autosomal recessive neuromuscular diseases due to relatively high consanguinity in Mali, 10 only 1 case of SMA has been clinically diagnosed in the country (unpublished data). Given the low incidence of SMA in Mali, we hypothesized that the SMA carrier frequency in this country is low.…”

Ethical, social, and cultural issues related to clinical genetic testing and counseling in low- and middle-income countries: a systematic review

“…31,46,55,59,86,122,[139][140][141]144,152,159 The Western model of individual autonomy may not be appropriate for collectivist cultures, where the individual's choice incorporates opinions of others. 65,74,89,122,152,160 Patients often feel it is the clinician's responsibility to inform their family members of their risk; 59,74,76,88,103,134,144,153,[160][161][162] however, clinicians often feel this is the patient's role. 55,88,163 Where consanguinity is common, family members are primarily in control of marriage and reproductive decisions.…”

“…Karma, curses, superstitions related to certain behaviors during pregnancy, and perceived punishment from God are commonly held beliefs regarding the origins of genetic diseases. 46,51,67,72,74,78,139,143,160,164,175,176 Without a biological understanding of genetic disease, cultural beliefs can deeply affect attitudes toward affected individuals. 136,175 Cultural beliefs are more familiar, and traditional medicine is more accessible in the community.…”

Lived Experiences of Fragile X Syndrome Caregivers: A Scoping Review of Qualitative Studies

“…In other African countries, "medical genetics" services are far fewer and are still developing (9). Consequently, there have been fewer African FXS-related studies published, that can also contribute to the lack of awareness of FXS, insufficient diagnostic tools and possibly cultural believes surrounding mental disorders (10).…”