Barriers to Implementing Clinical Pharmacogenetics Testing in Sub-Saharan Africa. A Critical Review

Abstract

Clinical research in high-income countries is increasingly demonstrating the cost- effectiveness of clinical pharmacogenetic (PGx) testing in reducing the incidence of adverse drug reactions and improving overall patient care. Medications are prescribed based on an individual’s genotype (pharmacogenes), which underlies a specific phenotypic drug response. The advent of cost-effective high-throughput genotyping techniques coupled with the existence of Clinical Pharmacogenetics Implementation Consortium (CPIC) dosing guidelines for pharmacogenetic “actionable variants” have increased the clinical applicability of PGx testing. The implementation of clinical PGx testing in sub-Saharan African (SSA) countries can significantly improve health care delivery, considering the high incidence of communicable diseases, the increasing incidence of non-communicable diseases, and the high degree of genetic diversity in these populations. However, the implementation of PGx testing has been sluggish in SSA, prompting this review, the aim of which is to document the existing barriers. These include under-resourced clinical care logistics, a paucity of pharmacogenetics clinical trials, scientific and technical barriers to genotyping pharmacogene variants, and socio-cultural as well as ethical issues regarding health-care stakeholders, among other barriers. Investing in large-scale SSA PGx research and governance, establishing biobanks/bio-databases coupled with clinical electronic health systems, and encouraging the uptake of PGx knowledge by health-care stakeholders, will ensure the successful implementation of pharmacogenetically guided treatment in SSA.

A Systematic Review and Analysis of the Use of Polygenic Scores in Pharmacogenomics

“…Other authors have commented on the Eurocentric bias in the development of PGSs in the broad field of human genomics 74‐77 . Our pharmacogenomic investigation corroborated this; the genetic ancestry of the populations included in this pharmacogenomics‐focused review were overwhelmingly European (base cohort: 91% and target cohort: 72%) ( Figure ).…”

Healthcare providers’ readiness for electronic health record adoption: a cross-sectional study during pre-implementation phase

“…However, more than 50% of those electronic record projects in the world were failed without providing their targeted benefits [19]. Particularly, the implementation of EHR remains a major challenge in the healthcare systems of low-income countries [20][21][22][23]. Only 15% of low-income countries have nationally adopted electronic record systems in health institutions [24].…”

Hepatic Models in Precision Medicine: An African Perspective on Pharmacovigilance

“…Investment in, and implementation of, national genomic-medicine initiatives is driving transformation in healthcare ( Stark et al, 2019 ). However, the adoption of pharmacogenetics testing in sub-Saharan Africa (SSA) faces numerous clinical, scientific, technical, socio-economic, and governance barriers ( Tata et al, 2020 ).…”

“…Driving impact into the clinical space, by the APC and other such initiatives, will require sustained contributions from stakeholders and investment in local population-relevant biotechnology. Given that pharmacogenomics is fundamental to precision medicine, and that screening for genetic variants is not yet considered a point-of-care prior to dispensing drugs ( Tata et al, 2020 ), Africa needs to invest further in technologies which directly contribute to stratified healthcare for its people. With clinical trials incurring the largest financial expenditure of the drug development pipeline, technologies which provide an opportunity to screen drugs within a genetically and physiologically relevant background must be established.…”