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Has translational genomics come of age in Africa?
Michelle Kamp1,2, Amanda Krause1, Michele Ramsay1,2
1Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, The University of the Witwatersrand, Johannesburg 2193, South Africa.
Insights
African genomics research is expanding, but genetic service delivery for precision public health (PPH) remains limited. Significant barriers include data scarcity and workforce shortages, hindering healthcare improvements across the continent.
Area of Science:
- Genomics
- Public Health
- Genetic Services
Background:
- Genomics research in Africa is increasing, with potential for precision public health (PPH).
- Current genetic service delivery in most African countries is limited and fragile.
- Significant barriers hinder the translation of genomics into improved African healthcare.
Purpose of the Study:
- To assess the readiness of African genomics for PPH.
- To identify challenges in genetic service delivery and research translation.
- To propose strategies for advancing genomics and PPH in Africa.
Main Methods:
- Assessment of current genetic service delivery models in Africa.
- Identification of barriers to genomic research and clinical implementation.
- Review of existing infrastructure, workforce, and funding.
Main Results:
- Genetic service delivery is largely 'Uncharacterized,' 'Limited,' or 'Disease-focused.'
- Key challenges include data paucity, genetic variation, workforce shortages, limited infrastructure, and insufficient funding.
- Despite challenges, a dedicated scientific community exists, with potential for innovation.
Conclusions:
- Africa has not yet reached its 'genomics age' regarding widespread healthcare application.
- A multi-dimensional approach is crucial, involving capacity building, funding, political will, and public engagement.
- Translating Africa-relevant genomic research into improved healthcare is imperative for accelerating PPH.
Abstract:
The rapid increase in genomics research in Africa and the growing promise of precision public health (PPH) begs the question of whether African genomics has come of age and is being translated into improved healthcare for Africans. An assessment of the continent's readiness suggests that genetic service delivery remains limited and extremely fragile. The paucity of data on mutation profiles for monogenic disorders and lack of large genome-wide association cohorts for complex traits in African populations is a significant barrier, coupled with extreme genetic variation across different regions and ethnic groups. Data from many different populations are essential to developing appropriate genetic services. Of the proposed genetic service delivery models currently used in Africa-Uncharacterized, Limited, Disease-focused, Emerging and Established-the first three best describe the situation in most African countries. Implementation is fraught with difficulties related to the scarcity of an appropriately skilled medical genetic workforce, limited infrastructure and processes, insufficient health funding and lack of political support, and overstretched health systems. There is a strong nucleus of determined and optimistic clinicians and scientists with a clear vision, and there is a hope for innovative solutions and technological leapfrogging. However, a multi-dimensional approach with active interventions to stimulate genomic research, clinical genetics and overarching healthcare systems is needed to reduce genetic service inequalities and accelerate PPH on the continent. Human and infrastructure capacity development, dedicated funding, political will and supporting legislation, and public education and awareness, are critical elements for success. Africa-relevant genomic and related health economics research remains imperative with an overarching need to translate knowledge into improved healthcare. Given the limited data and genetic services across most of Africa, the continent has not yet come of 'genomics' age.
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