Role of genomics literacy in reducing the burden of common genetic diseases in Africa

Abstract

Background In Africa, health practitioners and the current knowledge of the public on genetics and genomics is still very low and yet this has potential to reduce the burden of common genetic diseases. Many initiatives have promoted genomic research, infrastructure, and capacity building in Africa. What remains to be done is to improve genomics literacy among populations and communities while utilizing an array of strategies. Genomic literacy and awareness are key in the management of genetic diseases which includes diagnosis, prevention of complications and therapy. Africa is characterized by great cultural and language diversity thereby requiring a multidisciplinary approach to improving public and community genomics literacy and engagement. However, this is further complicated by having the fact that sub‐Saharan Africa is comprised of countries with the lowest literacy rates in the world. Methods We applied the Preferred Reporting Items for Systematic Reviews and Meta‐Analyses guidelines to review genomic literacy in Africa using PubMed database. Results We found very limited evidence of genomics literacy for genetic diseases in Africa. Conclusion We propose a number of approaches that if adopted will significantly increase the genomic literacy and reduce the burden of genetic diseases in Africa.

Strategic vision for improving human health at The Forefront of Genomics

“…Several educational strategies will inevitably be required to enhance the genomic literacy of these heterogeneous groups, which points to the need for innovative approaches that are shared, assessed, and improved over time 58 . A growing evidence base shows that increasing the understanding 61 , assists with the use of genomics for addressing health disparities 62 , and facilitates the uptake of genomic medicine 63 . Curricula for enhancing genomic literacy must be designed to be accessible, effective, and scalable for use in the full range of settings where genomics education is provided-including primary and secondary schools, science museums, and informal science-education venues.…”

Strategies for Genomic Medicine Education in Low- and Middle-Income Countries

“…Several initiatives have promoted genomic research and infrastructure and capacity development in many LMICs such as the Human Heredity and Health in Africa (H3Africa), the Qatar Genome Project, the Mexico National Institute of Genomic Medicine (INMEGEN), and the Collaborative African Genomics Network (CAfGEN) (Tekola-Ayele and Rotimi, 2015; Mlotshwa et al, 2017; Mboowa and Sserwadda, 2019). As genomic technologies rapidly advance and genomic sequencing becomes increasingly affordable, even in the LMICs, immense volumes of genomic data are generated with potential for guiding clinical decision making in the healthcare setting.…”

“…As genomic technologies rapidly advance and genomic sequencing becomes increasingly affordable, even in the LMICs, immense volumes of genomic data are generated with potential for guiding clinical decision making in the healthcare setting. However, the advent of such clinically actionable genomic information creates a dilemma as most healthcare providers in these countries are not competent in interpreting and communicating these results due to inadequate genomics knowledge and skills, thereby depriving patients from making informed decisions regarding personalized, targeted disease screening, prevention, diagnostics, and treatment approaches that can influence health and disease management (Metcalfe et al, 2002; Guttmacher et al, 2007; Cohn et al, 2015; Mboowa and Sserwadda, 2019). Thus, in the current genomic era, it is vital that LMICs take necessary measures to educate and build up a healthcare workforce that is effectively trained to integrate genetic and genomic information into their clinical practice (de Abrew et al, 2014; Sirisena et al, 2016a).…”

“…Such approaches would facilitate bridging the gap between the basic sciences and the clinical training and instill in the trainee the perception that genetics and genomics is clinically relevant. In situations where such integration is non-existent, revision of the undergraduate medical curricula to incorporate genetics and genomics modules tailor-made towards disease conditions that are relevant in the local context is warranted (Mboowa and Sserwadda, 2019).…”

“…It is also important that examinations for licensure and certification should include a substantial number of genetics-related questions. Additional strategies for building bridges between genetics and genomics and other specialties include the establishment of joint specialty training programs that combine medical genetics and genomics with another major discipline and the development of subspecialty training for individuals trained outside of medical genetics and genomics and introduction of new graduate programs in genetics and genomics (Mboowa and Sserwadda, 2019; Sirisena and Dissanayake, 2019). Thus, it would be necessary for the largely public funded academic institutions in LMICs to take the necessary steps to request for increased allocation of funds from national budgets for the realization of the above outcomes (Sirisena and Dissanayake, 2017).…”