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The African continent is poised to have a pivotal role in the global population landscape, with the United Nations projecting that the African population will reach 2.5 billion by 2050 and thereby make up more than 25% of the global population1. Currently, the African continent experiences a double burden of infectious (or communicable) diseases and non-communicable diseases (NCDs). Globally, NCDs such as cancer, respiratory diseases, cardiovascular diseases and diabetes will be the leading cause of mortality by 2030 (ref. 2). Given the projected increase in population and disease burden, new healthcare solutions will become necessary, including a shift toward precision approaches.

An important pillar for precision health is gene discovery studies and their clinical applications. These can provide crucial information about a person’s genetic predisposition to develop a disease, as well as their disease progression and response to treatment. Two different approaches are used in gene discovery studies, namely association studies—such as genome-wide association studies (GWAS) and whole-exome studies—and family linkage studies3. The African population includes a multitude of different ethnic groups4,5,6 with high genotypic and phenotypic diversity. It is, therefore, striking that a relatively low number of gene discovery studies are available for African populations. For example, among all GWAS, less than 1% were performed on participants of African origin7 (as of December 2023), and it is highly questionable how feasible it is to translate results from studies that were performed on individuals of European origin7 to other ethnic groups. Correcting this disparity and incorporating precision approaches into evolving health systems on the African continent requires coordinated efforts to build and maintain genomics capacity.

In this Review, we discuss the need for genomic capacity building on the African continent and its implications for precision health. We outline challenges that are unique to the African continent and are responsible for stalling progress. Additionally, we highlight successful model initiatives and organizations and propose solutions for closing the gap in genomic capacity building on the African continent.

Genomics and precision health in Africa

As of December 2023, close to 90,000 GWAS were published globally7 (GWAS monitor, accessed December 2023). Within these, 95% of all study participants are of European origin and most authors are affiliated with institutions in the USA8. This bias creates two major challenges for precision health on the African continent, which are elucidated in more detail below. First, results from gene discovery studies performed on the European population cannot be translated to the African population. Second, the African continent presently has a different disease burden compared to other geographical areas, and thus needs different solutions.

There is increasing evidence that the findings from gene discovery studies performed on European study groups cannot be extended to African populations. A pertinent example is the genetic predisposition for non-syndromic hearing loss, which affects around 6 in 1,000 in sub-Saharan Africa. In comparison, in Europe and North America around 1 in 1,000 are affected9. Although non-syndromic hearing loss is a very heterogeneous trait10, GWAS on European and Asian study groups have identified mutations in the connexin genes GJB2 and GJB6 as major causes11,12,13. However, results of studies for the African population show a different picture. A study performed on a Cameroonian cohort has shown that mutations in those two genes cannot be considered as main contributors to inherited hearing loss14. Instead, mutations in different genes, namely MYO3A, MYO15A and COL9A3, were identified by whole-exome sequencing for Cameroonian and Ghanian individuals15,16.

A second example is the different genetic predispositions for cancer in different populations. Cancer is the leading cause of mortality globally17, and the World Health Organization reported around 760,000 cancer deaths on the African continent for the year 2022 (ref. 18). Women of African origin generally develop breast cancer at a younger age and with increased severity. A recent study using whole-exome sequencing has found that breast cancer samples from Nigerian women have higher genomic instability and higher heterogeneity as compared to samples from individuals included in The Cancer Genome Atlas, which mainly contains data on individuals of European ancestry19. Moreover, several previous studies using whole-genome and whole-exome sequencing methods identified genetic alterations that predispose to different types of cancer specifically in the African population (reviewed by refs. 20,21), highlighting the need to tailor studies specifically to the African population. We speculate that these studies are only the tip of the iceberg. Their findings emphasize the need to perform more gene discovery studies on African populations instead of trying to transfer results of studies performed on individuals of European origin.

The African continent presently has a different disease burden and health system needs than other geographical areas of the world. There are some diseases, such as sickle cell disease (SCD), that have a disproportionately high prevalence in the African population. Seventy-nine percent of all global SCD cases occur in sub-Saharan Africa (around 400,000 cases in 2021)22. SCD is a group of inherited diseases caused by mutations in the gene encoding the hemoglobin subunit beta (HBB). Individuals with mutations in both HBB alleles, of which at least one is the so-called βSallele, have SCD, which is characterized by chronic hemolytic anemia and widespread organ damage23. Individuals with one normal HBB allele and βS are carriers of the sickle cell trait but do not have SCD. They have substantial protection against severe malaria. Therefore, this variant is believed to have evolved in malaria endemic areas as a protective genotype24.

As another example, the African population has a disproportionately high risk of developing chronic kidney disease. The prevalence in sub-Saharan Africa is between 12.2% and 16.5% as compared to the global average of 9.1%25. Possible reasons for this are genetic variants of the apolipoprotein L1, G1 and G2, which have a high prevalence in the African population. Those genetic variants were shown to be associated with a high risk for nondiabetic chronic nephropathy26,27. Interestingly, the same mutations have been shown to provide lytic and thereby protective activity against Trypanosoma brucei rhodesiense, the causative pathogen of African sleeping sickness28,29.

Additionally, infectious diseases such as tuberculosis, HIV/AIDS and malaria are disproportionally concentrated on the African continent30. While research on infectious diseases traditionally remained pathogen centered, the role of host genetics on disease susceptibility and disease response is gaining increasing attention. Human genetics can determine the absence or presence of entry receptors for pathogens or shape the immune response. For example, people with mutations in the gene encoding the CCR5 receptor are resistant to HIV infection31,32,33. A recent study has shown a striking difference in cytokine production between children from West Africa and two cohorts of Western European individuals upon vaccination with the Bacillus Calmette–Guerin (BCG) tuberculosis vaccine and subsequent in vitro immune stimulation34. This phenomenon was found to be caused by genetic differences, highlighting the role of genetics in shaping the immune response. This example is especially alarming since Africa accounts for 23% of global tuberculosis cases35. The findings should therefore inform future BCG vaccine development.

The above-mentioned studies have contributed important knowledge about genetic peculiarities of the African population and further emphasize the need for gene discovery studies tailored specifically to the African continent. These should then form the evidence base for translation into clinical applications targeted appropriately to individuals or subgroups of the population. Yet to enable large-scale genomic research and clinical testing, genomic capacity must be expanded on the African continent itself—and several big challenges to this must be overcome.

Challenges of building genomics capacity in Africa

Key challenges affecting the expansion of genomics capacity are noted in the sections below, but many of these apply to the biomedical sector as a whole. Therefore, addressing these challenges will lead to great improvement of biomedical research and healthcare delivery on the African continent in general.

Limited governmental support and poor legal framework

Be it at the stage of research, translation or regulation, genomics requires substantial funding, political will and support from any government that hopes to reap the benefits of such a promising scientific endeavor. To boost precision health in the USA, President Obama launched a Precision Medicine Initiative in 2015 with a budget of US$215 million36. Although in 2007 countries of the African Union decided to allocate 1% of their gross domestic product (GDP) to research and development (R&D), by 2014 sub-Saharan African countries only invested around 0.4% of their GDP in research (which at that time was only around 25% of the world’s average GDP)37. Recent studies exposed several reasons why research funding has been challenging in Africa38, including the dire economic situation and the difficulty of sharing limited GPD among education, security, health, research and so on. Private sectors that could boost research expenditure (as observed in European nations) are also inadequately equipped to do so.

Even when government funds are made available in African countries, researchers may experience difficulties in accessing and utilizing such funds. These hurdles result in African researchers seeking foreign aid to solve their region’s problems. Such an approach to funding can then lead to potential issues with data protection, data ownership and control. The lack of governmental support and oversight breeds weak laws, inadequate enforcement and corrupt practices—a fertile ground for crime and clandestine activities. Although some African governments (for instance, South Africa39 or Zambia40) have enacted data privacy protections, comprehensive legal frameworks regulating genomic data ownership and use are generally absent. Most countries lack clear guidelines to enable individuals to control access to their personal genomic information. Without robust, within-region financial support, government oversight on the terms and conditions accompanying foreign funding and safeguards codified into law, the risk of genomic data misuse is inevitable.

To date, there are different reasons why individuals hesitate to participate in genomics studies, among them are cultural and religious sensitivities41. If confidentiality, ownership and control of genomic data cannot be guaranteed, this may be an additional reason for people to hesitate to participate in research. For researchers themselves, uncertainty over permissible applications of genomic data can hamper progress. Hence, more commitment toward funding and fulsome policy development is vital to earn public trust and enable responsible genomic programs.

Lack of clinical and laboratory infrastructure

Hospitals and their associated laboratories are usually the first port of call for patients seeking medical care, and they have key roles at different levels in the implementation of precision health. For example, hospitals are the strategic point where non-genomic data, such as demographic, clinical, phenotypic, environmental and imaging data are collected. Laboratories add genomic, transcriptomic, proteomic, metabolomic and population data. The synergy between these two players is most crucial for the effective implementation of precision health approaches. We notice the following hurdles in healthcare facilities and laboratories that need to be overcome.

Lack of EHRs

There has been limited adoption of electronic health record (EHR) systems across clinics, hospitals and public health agencies in most African countries. Data on patient diagnoses, treatments, individual variability, outcomes and environmental exposures are often collected in paper records or not at all42. This makes it extremely difficult to link data across facilities to analyze broader disease patterns, genomic risk factors and their contributions to treatment effectiveness and other outcomes. Electronic records and sharing systems are pivotal for harnessing genomics for large-scale epidemiological analysis and public health interventions. The infrastructure to collect, analyze and share comprehensive digital health data in a way that makes it harmonizable with laboratory datasets is currently largely absent in Africa. A major obstacle to the attainment of this can be traced to the unstable electricity network in many African countries. This affects not only health records but also the productive use of acquired biomedical equipment in other areas of genomic research such as sequencing, analysis, sample storage and transfer.

High supply chain costs

The equipment, reagents and consumables utilized at the laboratory phase of genomics research are very expensive. In addition to the primary cost of these resources, the supply chain costs further contribute a substantial obstacle to genomic research progress in Africa. It is an experienced reality that the cost of purchasing equipment, reagents and consumables in Africa is higher than in the Global North, effectively creating a financial barrier. A study performed in 2016 to evaluate the performance of a clinical laboratory in Tanzania showed that clinical laboratory tests were 2 to 18 times as expensive in Tanzania as compared to a North American laboratory43. Several factors contribute to these disproportionately high costs, including the presence of middlemen, high import tariffs and profit margins of multinational companies, fragmented distribution networks and limited transparency. Additionally, limited competition in the market allows suppliers to maintain higher prices. This prohibitively high overhead cost, especially when funding is limited, has profound implications on the progress of research in Africa. It hampers the establishment of well-equipped laboratories, restricts the scale of genome studies and impedes the adoption of advanced technologies, thereby perpetuating health inequalities. However, African scientists would benefit from leveraging emerging technologies such as the Internet of Things, blockchain and artificial intelligence, as these have been shown to optimize distribution routes, enhance traceability and improve inventory management on the continent—all of which could help reduce the overhead cost of the supply process44.

Lack of sequencing facilities

Although sequencing costs have declined dramatically over the past decades, most African nations still have limited genome sequencing capacity and infrastructure45. This can be attributed to the funding challenges mentioned above. Most existing facilities rely on outdated equipment with low throughput and, therefore, cannot embark on large-scale population studies. This often necessitates shipping samples abroad for sequencing, adding to delay, logistical hurdles and costs. Expanding high-throughput sequencing facilities is essential for generating genomic data at par with other regions.

Poor equipment maintenance

A critical challenge in genomics research in Africa revolves around the maintenance of laboratory equipment. Scientific instruments, such as DNA sequencers and gene analyzers, often require sophisticated maintenance protocols. The lack of regular calibration and upkeep has a substantial effect on the reliability and accuracy of genomic data, contributing to challenges in replicability and data quality46. A major root cause is the lack or shortage of skilled technicians. Most of the biomedical engineers and other skilled workers with the technical know-how to address genomic equipment failures are resident in the Global North. Usually, these experts are flown into the continent to address issues that could be addressed by well-trained local experts, if available. A potential solution would be leveraging the internet to remotely troubleshoot, train personnel and fix problems using internet calls, remote desktop applications and tools that track, diagnose and fix certain equipment remotely. Additionally, building a local network of skilled technicians can be achieved via crowdsourcing initiatives in which engineers interested in biomedical health can be brought together to brainstorm new technologies and even proffer locally adaptable alternatives47.

Not enough well-structured and equipped biobanks

Organized biobanks for the collection and long-term storage of biological samples (for example, blood) along with associated digitized medical data are crucial to enable genomic analysis of different African populations and disease patterns. This is especially important for future prospective studies, whose scope and research questions have yet to be defined, but which will require appropriate samples and data. Currently, only few such facilities exist, apart from those affiliated with specific research projects48. Establishing diverse, centralized biobanks and making these accessible to African researchers would create a ready source of data for various studies of genetic diversity, disease markers and drug responses, and so on—especially in underrepresented groups. To establish biobanks with standardized protocols for ethical sample collection, data security and governance are needed. In this regard, African scientific national and regional organizations have the opportunity to learn from existing initiatives like the UK Biobank.

Lack of computational resources

Poor internet connectivity

Precision health efforts will generate unprecedented amounts of data that must be securely shared across labs, public health agencies and clinics. This demands affordable, high-speed broadband internet reaching individuals, hospitals and research centers. Unfortunately, internet access remains limited, very expensive and unreliable in many parts of Africa (including for many clinics and labs), hampering collaboration49,50. Addressing these connectivity gaps will be crucial. Most clinics and labs in remote areas are not adequately served by the current internet setup. Even in urban locations where the internet is expected to be reliable, outages are frequent.

Weak data analytics and storage capacity and capability

Advanced genomics studies produce massive datasets, and analysis of these requires considerable computing power and sophisticated tools. There is a shortage of trained and skilled personnel in machine learning, artificial intelligence and bioinformatics in Africa to handle processing, statistical analysis, data mining and interpretation of genomic data51. Building local expertise in this area is crucial. At the same time, providing access to high-performance computing infrastructure, user-friendly analytical pipelines tailored to diverse African genomes and secure data storage and sharing platforms have lagged behind other parts of the world.

Inadequate human resources

The brain drain

To date, there is an ongoing outcry regarding the continuous loss of available trained personnel from African countries (mainly to the Global North), which has led to insufficient or total lack of crucial expertise in many areas. This is not limited to the field of genomics and precision health; it is a general phenomenon affecting all sectors but is more visible in the educational, health and biomedical institutions on the continent. Estimates indicate that between 1960 and 1989, around 127,000 professionals left Africa, and since 1990, around 20,000 professionals have emigrated annually52. This includes large percentages of the most educated and skilled people from countries like Uganda, Sierra Leone, Tanzania, Kenya, Ghana and Nigeria. The impact has been devastating for health systems, with doctor-to-population ratios in West and Central Africa at only 0.2 per 1,000 compared to 3.5 per 1,000 in the USA53. Low salaries, limited career opportunities, inadequate research infrastructure and low standards of education are among the root causes driving the brain drain54. Losing skilled personnel makes it impossible to build the required framework for the development of genomic capacity on the African continent. In addition to the loss of trained workers, the countries lose the money that they initially invested in educating their workforce. Moreover, the emigration of trained healthcare professionals and researchers will create a negative feedback loop because the next generation of scientists lack teachers, mentors and opportunities, perpetuating the problem. It should therefore be of the countries’ utmost interest to retain skilled workers by providing adequate salaries and good working conditions.

Insufficient genetic testing and counseling

While genetic testing has become more common in healthcare globally (for example, in newborn screenings and prenatal diagnostics), most African countries have few equipped facilities or trained personnel to offer clinical genetic testing and counseling55. Although tests for monogenic diseases like sickle cell anemia have existed for decades, their availability and use on the African continent is still poor56. Broader gene panel tests and whole-genome sequencing are rarely accessible for diagnosis or screening. Overall, patients have very limited access to genetic testing services or return of results, and when available, there is a shortage of genetic counselors to help patients understand and act on their results57. This severely reduces the clinical utility of genomics in early diagnosis, healthcare planning and tailored treatments.

Inadequate genomics education

A recent survey suggests there is low awareness among African clinicians about potential genomic applications and how to interpret genetic data58. Introducing genomics-based precision health will, therefore, require extensive training of doctors, nurses, pharmacists and other health professionals on genetics fundamentals and how to use genomic tools responsibly. Developing such educational programs and integrating genomics into both undergraduate and continuing medical curricula are essential to preparing the current and future healthcare workforce.

The dependency trap

Following the above discussion, it is becoming clear that Africa has yet to realize the full benefits of genomics due to limited skilled personnel, funding and varied infrastructural challenges. The insufficiency of domestic financing makes African countries remain heavily reliant on external donors to support genomics research. From 2010 to 2022, the Human Heredity and Health in Africa (H3Africa) program—sponsored by the US National Institutes of Health (NIH) and the Wellcome Trust—was the primary enabler of genome sequencing and bioinformatics training on the continent. However, dependence on outside funding risks undermining the long-term advancement of genomics in Africa (Fig. 1).

Fig. 1: The dependency trap of the African continent.
figure 1

To date, the African research environment is strongly dependent on the Global North. Infrastructural, computational and legal barriers, among others, create and maintain this status quo—but potential solutions exist to break this dependency and build a sustainable research environment on the African continent.

The reliance on foreign donors often means that African countries lack ownership over setting genomics agendas and priorities—sometimes, even the data itself. External funders may earmark support for initiatives that align with their interests rather than national needs. Additionally, when grants end, progress halts unless new financing emerges (for example, H3Africa’s conclusion threatens the sustainability of its gains). Also, aid that is not carefully coordinated across disparate outside funders can lead to fragmentation of efforts, rather than coherent capacity building. Separate donor-led projects may duplicate certain efforts, leaving other gaps unaddressed. Furthermore, dependence on aid diminishes governmental accountability for health. With budgetary commitments covered by others, officials have little incentive to allocate domestic resources toward genomics and may devote scant attention to the issue. Consequently, policies and regulations needed to govern genomic implementation do not develop.

In summary, dependence on external donors may lead to barriers to data ownership and minimal interest in national needs. It can forestall the development of local funding streams and policy frameworks that can support a self-directed advancement of genomics. It engenders a vicious cycle of aid dependency.

Strategies for enhancing genomics capacity in Africa

Genomic capacity building for precision health in Africa presents not only unique challenges, but also massive opportunities. Based on the challenges discussed above, we outline a list of priority strategies to help unlock the full potential of genomics and precision medicine in Africa; Table 1 summarizes these strategies and their expected benefits.

Table 1 Strategies for building genomic capacity on the African continent and their expected benefits

Intentional and strategic funding

Collaborations and PPPs in genomics research

Genomic research in Africa can benefit considerably from fostering collaborations between governmental bodies, academic and research institutions, private institutions and industry players. Public–private partnerships (PPPs) offer a viable strategy for pooling financial resources and expertise. Such collaborations will ensure sustained funding for genomics research, infrastructure development and implementation of precision health initiatives. The All of Us Research Program in the USA serves as a notable example, demonstrating the efficacy of PPPs in mobilizing diverse funding sources. PPPs help to diversify funding and reduce dependency on a single source. Additionally, they encourage the sharing of expertise between public and private entities. This collaborative approach will accelerate the translation of genomic discoveries into practical applications for improved healthcare outcomes. Nevertheless, it will be crucial that a tight legal framework be provided for PPPs to balance the profit motive of the private partner(s) with the objectives of the public partner(s). Appropriate regulations will help to avoid ethical and social equity issues and are vital to ensure that African countries keep their intellectual properties.

Investment in R&D

Allocating funds specifically for regional genomics R&D is imperative to supporting the discovery of novel solutions relevant to African populations. Ultimately, this will enhance the applicability of precision health interventions to the populations for which they are intended. To understand and holistically address local needs, the research must be performed locally—but can benefit from international collaborations.

Grant programs for research and education

Establishing grant programs to support training and education in genomics is vital for fostering a skilled workforce. Such a workforce should be capable of project initiations, executions and the utilization of genomic data for precision health applications with little or no external influences. Initiatives such as the H3Africa and the World Bank Africa Higher Education Centers of Excellence (ACE) Project serve as models for providing grants to African researchers, nurturing the development of genomics expertise on the continent. Funding sustainable translational genomics workforce development programs will be critical to retaining skilled professionals in Africa, going a long way toward mitigating the ongoing brain drain. Investments must aim to build a self-sustaining ecosystem with locally trained experts remaining within the region and driving genomics research, clinical application and big data analytics.

In terms of analytics, the procurement of high-performance computing infrastructures and the training of African-based researchers on the usage, troubleshooting and applications of the equipment is central to capacity building. Also, these future analysts should be trained in the creation and maintenance of user-friendly (for example, web-based) big data analytics ecosystems, which would replace the traditional, highly technical processes (for example, command-line-based). Therefore, young and emerging African scientists should be encouraged and supported to acquire specialist data analytics skills. This step will not only close the current gap in data analytics and bridge gaps in computing infrastructure, but also help sustain a critical mass of genomic scientists interested in analytics.

Infrastructure and local resources development

Integration of EHRs

Promoting the widespread adoption of EHR systems is essential to streamline data collection, storage and accessibility across healthcare facilities. Although EHRs are largely absent in African healthcare systems, a small number of countries like Kenya and South Africa have already implemented EHRs into the healthcare systems. Additional countries like Ghana, Rwanda and Zimbabwe are planning to use EHRs in the near future59,60. EHRs enable seamless data sharing by enhancing the interoperability of health data and facilitating collaborative research efforts. Besides providing comprehensive patient information for personalized healthcare, they can be used for real-time disease surveillance by enabling the monitoring of disease patterns and outbreaks for timely interventions. It should be noted, however, that EHR implementation is highly dependent on reliable power supply, adequate hardware, stable internet connectivity and highly trained computing and networking staff.

Reducing infrastructural costs

To address the challenge of infrastructural development costs in genomics research, Africa needs to consider alternatives in emerging technologies and invest in local manufacturing and technological self-sufficiency. Three steps will be critical for this process. First, alternatives to expensive traditional infrastructure should be looked at; for example, in the case of sequencing platforms, Oxford Nanopore Technology sequencers could provide an affordable alternative to next-generation sequencers61. Second, foreign industrial players should be encouraged by governments through the enactment of investment-friendly policies that would stimulate the situation of local branches across the continent. This singular move will considerably reduce the supply chain cost as it eliminates middlemen and enables direct business dealings between research organizations, clinics, local genomic industries and foreign manufacturers. Third, African countries need to establish new in-country biotechnology companies and strengthen existing ones. Establishing partnerships with international organizations for intellectual properties and technology transfer while fostering their collaborations with local industries can contribute substantially to the production of affordable reagents and equipment. In this regard, focus can be placed on knowledge transfers in reagent production and equipment management. This will enable local biomedical scientists to embark on producing reagents locally, while biomedical engineers will respond to equipment breakdowns—thereby considerably reducing downtimes and the cost of engaging the services of internationally based bioengineers. Reduced infrastructural maintenance and reagents costs will democratize access to cutting-edge technology, fostering a more inclusive research landscape. These in turn will enable a broader spectrum of researchers to engage in genomics studies, leading to diverse and representative datasets.

Establishment of a biobanking network

Creating a network of biobanks with standardized protocols for ethical sample collection, storage and sharing is crucial for enhancing genomic research on diverse African populations. Previous initiatives have started this endeavor; for example, the Southern African Human Genome Programme exemplifies collaborative efforts to build biobanking infrastructure for genomics research62, and the H3Africa Consortium has successfully established three biobank repositories in Uganda, Nigeria and South Africa63. Creating more African-based biobanks will facilitate comprehensive studies on genetic diversity and enable the identification of disease markers specific to African populations. This will boost drug response research by supporting investigations into how African populations respond to medications, leading to personalized treatment approaches. Local biobanks will grant long-term data sustainability, ensuring the availability of high-quality biological samples for future genomics research.

Accessible internet and high-performance computing

Ensuring access to high-quality internet and advanced computing facilities is crucial to handling the massive datasets generated by genomics studies. The already ongoing implementation of satellite internet services (Starlink) in some African countries may help circumvent the issues faced with fiber optics and other previously deployed broadband options. Initiatives like the South African National Integrated Cyberinfrastructure System showcase the impact of high-performance computing in advancing genomics research. Access to supercomputers will reduce the time required for genomic data analysis, expediting research outcomes. National or continental systems can increase data security for storing and processing sensitive genomic information. By providing a good local computational infrastructure, the growth of bioinformatics skills within Africa will be boosted, and dependency on external resources will be dramatically reduced.

Policy

Data ownership and policies for genomic data

Implementing policies that prioritize local ownership of genomic data is crucial for protecting African populations from exploitation and ensuring equitable benefits. The European General Data Protection Regulation provides insights into establishing policies that prioritize data privacy and ownership64. A few African countries such as South Africa and Zambia have already established their own framework for data protection39,40. In general, African countries and the African Union should learn from the General Data Protection Regulation to set data policies that consider local realities on the continent, to ensure ethical data practices to grant ethical handling of genomic data and respect the rights and privacy of individuals. Additionally, it will empower African researchers by securing the ownership of the data that they generate. Finally, ensuring a data security policy that aligns with international standards can additionally promote collaborative genomics research.

Integration of genomics education into healthcare curricula

Incorporating genomics education into healthcare curricula ensures that healthcare professionals are well trained and versed in utilizing genomic information for precision health. The Genomic Medicine Education Programme in the UK showcases the successful integration of genomics education into medical training65. Programs like these equip healthcare professionals with the knowledge to make informed decisions based on genomic data. They will strongly improve patient care and counseling by enabling healthcare providers to effectively communicate genomic information to patients. Genomics education will be critical for establishing a foundation for ongoing education in genomics, adapting to evolving technologies.

International collaboration frameworks in genomics

Developing frameworks for international collaboration is essential to facilitate knowledge exchange, resource sharing and joint efforts in addressing global health challenges through genomics. The Global Alliance for Genomics and Health (GA4GH) serves as a model for fostering international collaboration in genomics research and data sharing66. Strong networks will facilitate the exchange of knowledge and expertise between global genomics communities and will enable African researchers to access diverse datasets, enhancing the comprehensiveness of research. Moreover, they will establish global standards for ethical genomic research, ensuring consistency in practices.

Successful genomics initiatives on the African continent

Despite all the challenges of building genomic capacity for the implementation of precision health in Africa, some tentative progress is being made in the right direction. A few use cases are listed below. Their key achievements are summarized in Table 2.

Table 2 Outstanding examples for genomic capacity building on the African continent

Genome sequencing hubs

New hubs of excellence for genome sequencing with state-of-the-art high-throughput equipment and facilities have emerged in Africa in the last 10 years, and are now poised to perform large-scale gene discovery studies. The African Centre of Excellence for Genomics of Infectious Diseases (ACEGID) at Redeemer’s University has, in the past few years, acquired the most advanced genomic sequencing equipment and automations from world-leading biotechnology companies, to enable and expand high-throughput genomic sequencing capacity and data storage on the continent. The center initially had a strong focus on using next-generation sequencing to study infectious diseases—as evidenced by the sequencing of the first SARS-CoV-2 genome at an unpreceded speed of 48 h (ref. 67)—but ACEGID recently added human genomic research to its portfolio68. Although many countries were unprepared for the COVID-19 pandemic and most African countries had a weak pathogen genomics preparedness and response framework, ACEGID was able to sequence COVID‐19 samples from around 30 African countries. In the process, it trained over 260 scientists from these countries and has also trained more than 1,600 geneticists, public health workers and officials from other countries in diagnostics and genomics for various infectious diseases69. To overcome infrastructural challenges, ACEGID gained independence from the national electricity grid—constant electricity was a major challenge it had to grapple with since its inception in 2014—by investing in its own solar systems. ACEGID still faces internet issues but is positive about overcoming this by leveraging emerging internet technologies such as the satellite network provided by Starlink.

A second example of a successful genomics center on the African continent is the South African Medical Research Council (SAMRC) Genomics Platform, a collaboration between the SAMRC and the Beijing Genomics Institute70. One of its biggest successes was the sequencing of local human whole genomes62.

Overall, investing in the establishment, daily running and maintenance of a genomic sequencing hub in Africa means that stakeholders have to be prepared for the fact that the terrain could be quite difficult to navigate for the initial few years. However, understanding how to improvise and source alternative and backup resources to address basic needs such as electricity, internet and supply chain, is likely to increase stability and promote long-term success.

Local funding sources and networks

The H3Africa consortium was funded in 2010 as a collaboration between the NIH and Wellcome Trust and the African Society of Human Genetics. Since then, it has heavily invested in improving the genomics infrastructure on the African continent by the establishment of three biorepositories (as mentioned above), by purchasing an Illumina sequencer and by building up a bioinformatics network on the continent63,71. Furthermore, it has helped make big achievements in terms of human capacity building by training 260 BSc, 510 MSc and 480 PhD students71. As the H3Africa program is ending, a few African countries have invested through the World Bank ACE Project, to successfully establish genomic sequencing and bioinformatics hubs. Additionally, the establishment of the Africa Pathogen Genomic Initiative by the Africa Centres for Diseases Control and Prevention (CDC) has demonstrated to be very impactful during the COVID-19 pandemic and is now moving toward utilizing its resources for genomic surveillance and outbreak response to many pathogens on the African continent.

Outlook and conclusion

To address the double burden of communicable diseases and NCDs in the next decades, the African continent needs to make some substantial steps forward in terms of increasing its genomic capacity. Along with policy changes and building up the required infrastructure, education and training of local healthcare personnel will be key. The strategies and use cases described above, grounded in intentional funding, robust infrastructure development and well-crafted policies, will collectively enhance genomics capacity in Africa. The associated benefits will extend beyond immediate research outcomes, contributing to sustainable advancements in precision health for diverse populations on the continent, and ensuring health security and prosperity in Africa and globally.