Genetic Diagnosis for Hereditary Neurological Diseases in Mali, West Africa

Tuesday, 14 July 2009: 10:30 AM

Katherine G. Meilleur, PhD
Center for Research on Genomics and Global Health, National Institutes of Health, Bethesda, MD

Learning Objective 1: identify genetic techniques that are cost effective and improve global health

Learning Objective 2: evaluate the potential importance of receiving genetic testing and counseling for hereditary conditions in developing countries


As genetics research increasingly impacts health care, mitigating the disparities in the applications of this research between developed and developing countries is an important goal.  For instance, leishmaniasis and dengue fever are affordably diagnosed by polymerase chain reaction (PCR) in the developing world, and recombinant plant-based vaccines, which do not need to be refrigerated, are being produced for hepatitis B, cholera, measles, and human papilloma virus.  Technologies such as PCR, microarray, bioinformatics, and pharmacogenomics have great potential to improve health care.  This has also been recognized by the World Health Organization, leading to a Special Report on Genomics and World Health.  Another clinical example is confirmatory genetic testing and genetic counseling for hereditary conditions; although these services are available in much of the developed world, patients in the developing world do not generally have access to them.  However, the introduction of genetic testing may or may not be helpful in some cultures as it raises various ethical issues.

Methods: To assess the lay understanding of genetics and the importance to Malians of receiving first-time genetic testing and counseling for hereditary neurological diseases, we piloted and administered a questionnaire in Mali regarding knowledge and attitudes.

Results: Although knowledge did not change from baseline for patients and parents, more distant relatives did improve their knowledge scores.  Attitudes were favorable toward genetic testing and counseling before and afterwards, with greater favorability expressed by people of college or superior education.  The majority of subjects expressed concerns about confidentiality. These results indicate that genetic testing and counseling were important to Malians and that they understood the sensitive nature of this information. 

Conclusion: More research is needed to provide evidence for the benefits and/or harms of genetics applications in developing countries.