Implementation of genomics research in Africa: challenges and recommendations

Abstract

Background: There is exponential growth in the interest and implementation of genomics research in Africa. This growth has been facilitated by the Human Hereditary and Health in Africa (H3Africa) initiative, which aims to promote a contemporary research approach to the study of genomics and environmental determinants of common diseases in African populations. Objective: The purpose of this article is to describe important challenges affecting genomics research implementation in Africa. Methods: The observations, challenges and recommendations presented in this article were obtained through discussions by African scientists at teleconferences and face-to-face meetings, seminars at consortium conferences and in-depth individual discussions. Results: Challenges affecting genomics research implementation in Africa, which are related to limited resources include ill-equipped facilities, poor accessibility to research centers, lack of expertise and an enabling environment for research activities in local hospitals. Challenges related to the research study include delayed funding, extensive procedures and interventions requiring multiple visits, delays setting up research teams and insufficient staff training, language barriers and an underappreciation of cultural norms. While many African countries are struggling to initiate genomics projects, others have set up genomics research facilities that meet international standards. Conclusions: The lessons learned in implementing successful genomics projects in Africa are recommended as strategies to overcome these challenges. These recommendations may guide the development and application of new research programs in low-resource settings.

Conference report: pharmacogenomics in special populations at WCP2018

“…The available few GWAS revealed potential novel genetic biomarkers for antiretroviral and anti‐TB drug‐induced liver toxicities .The HLA‐C*04:01 allele is associated with nevirapine‐induced SJS/TEN in sub‐Saharan Africans . Currently, most genome‐wide single nucleotide polymorphism (SNP) arrays are designed for European ancestry, and the tag SNPs are less efficient for non‐Europeans, particularly for SSA populations . The lack of cost‐effective, high‐throughput genotyping technologies and microarrays with good SNP density coverage specific for African ancestry remains a challenge for the progress of PGx in Africa .…”

“…Currently, most genome‐wide single nucleotide polymorphism (SNP) arrays are designed for European ancestry, and the tag SNPs are less efficient for non‐Europeans, particularly for SSA populations . The lack of cost‐effective, high‐throughput genotyping technologies and microarrays with good SNP density coverage specific for African ancestry remains a challenge for the progress of PGx in Africa . Over the past two decades, PGx research in Africa has generated ample knowledge on variant alleles that determine patient variability in the plasma exposure and treatment outcome of drugs used to treat HIV, TB and malaria.…”

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

“…Given the importance of Africa to studies of human origins and disease susceptibility (Gurdasani et al, ), there is exponential growth in the interest and implementation of genomics research in Africa which has been facilitated by the Human Hereditary and Health in Africa (H3Africa) initiative. The aim of H3Africa is to promote a contemporary research approach to the study of genomics and environmental determinants of common diseases in African populations (Adebamowo et al, ). Health care benefits greatly from the unprecedented and ongoing work elucidating the genetic/genomic basis of health, illness, disease risk, and treatment response (Calzone et al, ).…”

The ethics approval process for multisite research studies in Australia: changes sought by the Australian Genomics initiative

“…The Human Heredity and Health in Africa initiative is undertaking the ethics review process for genomic studies across Africa. A recent report on the challenges faced by this initiative suggested that the main barrier to ethics approval is a lack of genomic expertise within ethics committees . With increasing international data sharing efforts, internationally compatible solutions to research ethics issues need to be developed.…”

“…A recent report on the challenges faced by this initiative suggested that the main barrier to ethics approval is a lack of genomic expertise within ethics committees. 5 With increasing international data sharing efforts, internationally compatible solutions to research ethics issues need to be developed. The Global Alliance for Genomics and Health has developed an ethics review recognition policy, 6 and Australia could continue to demonstrate leadership internationally if 442 remaining challenges to multijurisdictional research were addressed.…”