Tailoring Genetic Counselling for Sub-Saharan Africa

Thanks to improvement and availability of user-friendly and increasingly more affordable diagnostic technology worldwide, public access to genetic testing is increasingly easy. However, hitherto unforeseen ethical and sociological divides and pitfalls may appear in societies where the burden of disease is high, but access to healthcare resources is restricted and levels of knowledge of genetic disease are low, for example, stigma associated with inherited conditions, misunderstanding of genetic test results, and limited access to trained genetic counselling. Nowhere is this more visible than in sub-Saharan Africa (SSA), the location of the youngest population in the world and one of the fastest growing global regions. Here, limited access to testing and low genetic knowledge amongst healthcare workers lead to an ‘iceberg phenomenon’ or the existence of just a few published genetic case reports or cohort studies from the sub-Saharan region, while the lion’s share of genetic disease goes unrecognised and undiagnosed. Compared with high-income settings, issues such as limited reproductive autonomy, partner blame, social pressure, stigma, and gaps in maternal healthcare create a different risk landscape, especially for mothers of children with genetic conditions in SSA. The most commonly used genetic counselling guidelines (American College of Medical Genetics and Genomics; American or European Societies of Human Genetics) cannot always prepare counsellors for these realities, as one can’t understand what one doesn’t know. Medical genetics practice guidelines are largely based on populations of European and Asian ancestries, because major discoveries and technology in genetics have followed the underrepresentation of Africans in clinical research and genomic databases. Specifically, aspects of the current guidelines that address risk communication, family disclosure, and reproductive decision-making do not adequately account for differences in social structure, healthcare access, and genetic literacy in African populations. In SSA, where levels of education are lower and even medical specialists have hardly been exposed to, or trained in, genetic disorders and aspects of ethics and genetic counselling, recognition of and adequate targeted testing for genetic disease may be absent due to unawareness and extremely limited resources in medical and laboratory genetics. Even if all patients can be tested, pre-test counselling may focus on the diagnostic odyssey only, causing unexpected situations, such as misunderstanding of the meaning of genetic results, distress following disclosure of hereditary risk to family members, or stigma and blame directed at parents, upon return of genetic results. Genetic testing facilities abroad have become increasingly available, but in SSA this doesn’t go hand in hand with availability of genetic counsellors and clinical geneticists. It means that genetic counselling for SSA urgently needs a tailored approach. This collection discusses: 1. Limited diagnostic and counselling resources in clinical genetics of the SSA region to create the right perspective for the reader. 2. Then, the spotlight turns to stigma, with neurogenetic disorders as an example. Stigma is a factor in the burden of genetic disease everywhere, but in few other places, is it as deeply rooted in sociocultural beliefs and perceptions as in SSA. 3. The following section describes family structure pitfalls, such as complex extended family decision-making, partner blame directed at mothers, and disagreements between relatives regarding testing or disclosure, that the genetic counsellor in SSA must navigate (see Table 1 for examples of gender-based inequity in genetic counselling interactions in SSA). These issues make maternal safeguarding, or the protection of mothers of children with disabilities from domestic violence and community threats, essential in this setting. 4. Finally, a near future where lab technology availability initially overtakes levels of clinical genetics knowledge in the general population and amongst healthcare workers is a risk unto itself and will be outlined, as genetic tests may become available in clinical settings before adequate training in interpretation, counselling, and responsible communication of genetic information is established. This may lead to misinterpretation of results, inappropriate clinical decisions, and distress or stigma for affected families. We recommend adapting genetic counselling guidelines for SSA through a combination of further research, expert deliberation, and the development of regionally appropriate clinical practice guidelines that take into account local sociocultural contexts, healthcare infrastructure, and levels of genetics training among healthcare workers.