Why Africa Needs Genomic Inclusion

In 2023, doctors in Kenya reported the country’s first genetically confirmed case of Chronic Granulomatous Disease. The infant had a harmful change in the CYBB gene, but that variant did not appear in the major databases used to interpret genetic tests.

As a result, the child’s doctors had little guidance from existing genomic resources, even though similar variants had already been studied in Europe, Asia, and North America.

This is where genomic inclusion comes in. It means ensuring that people from Africa are represented in genetic research, databases, and medicine. And it is more than a matter of fairness because it directly shapes better healthcare, stronger science, and global disease prevention.

The Current State of African Genomics

Africans make up only about 2 to 3 percent of the genomic data used in most genome-wide association studies (GWAS), even though the continent represents 17 percent of the global population. By 2021, African participation in GWAS had fallen even further, to less than 1.1 percent.

The gap was clear during the COVID-19 pandemic. African countries contributed fewer than 2 percent of viral genome sequences to international databases such as GISAID. This meant that critical data on how the virus spread and mutated in African populations was underreported.

These gaps matter because they mean that many genetic variants common in African populations are either poorly understood or absent from research. In 2019, a large analysis of African genomes revealed 3.4 million previously undocumented genetic variants. This shows how much the world is missing when Africa is left out of genomics.

Underrepresentation not only slows down medical discoveries, but It also increases health risks for Africans and reduces the accuracy of global research, which ultimately affects everyone.

How Africa’s Genetic Diversity Drives Medical Discovery

1. Highest genetic diversity

Africa is the birthplace of modern humans. Its populations have had more time to accumulate variation. This gives lots of different genetic patterns that do not exist elsewhere. Understanding this variation helps uncover gene-disease links that are invisible if you study only Europeans or Asians. 

2. Precision in disease gene discovery

Because African genomes often have shorter regions of correlated variants (that is, less “linkage disequilibrium”), it is easier to pinpoint which genetic change is actually causal for a disease. Having more African genomes helps improve precision in locating disease-associated loci. 

3. Novel disease-associated variants

Large scale studies have uncovered millions of genetic variants unique to African populations. One landmark project analyzing about 400 genomes from 13 African countries identified 3.4 million previously undocumented variants.

4. Better medicine for all populations

Lack of representation leads to drugs and diagnostics that may work poorly or have unexpected side effects. Polygenic risk scores (scores based on many genes) derived mostly from European ancestry perform poorly in many African populations. 

Risks of Excluding Africa from Genomic Research

(i) Misdiagnosis or delayed diagnosis:

Clinical genetic tests depend on variant databases (for example, ClinVar, gnomAD). When those lack variants common in African populations, harmful mutations may be missed or misclassified. For example, many variants common in Africans are labeled “variants of uncertain significance” because absence in databases leads to a lack of data. This causes a delay in treatment. 

(ii) Adverse drug reactions:

Genes that affect how drugs are metabolized (such as the cytochrome P450 family) vary by ancestry. Africa-specific variants can change drug metabolism. If these are missing in the data used for dosing guidelines, side effects could be worse or efficacy reduced. (While specific clinical trial examples in Africa are fewer, pharmacogenomics literature confirms population differences in drug metabolism.)

(iii) Ineffective risk prediction:

Tools like polygenic risk scores (PRS) are built mostly from European or other non-African ancestry data. A recent study on PRS for body mass index (BMI) in continental Africans showed much lower predictive performance compared to Europeans. 

(iv) Missed opportunities for new treatments:

Discovering novel variants in African populations can lead to new drug targets, vaccine development, and diagnostics. If diversity is ignored, the scientific community misses out on those insights.

Current Efforts Toward Genomic Inclusion

• Kenya (KEMRI) efforts:

Kenya Medical Research Institute has built up genomic sequencing capacity. They launched a new genomics lab that will help with surveillance (for example, polio, infectious pathogens) and localization of sequencing, so Kenya does not need to send all samples abroad. They also run bioinformatics training programs (e.g., SARS-CoV-2 sequencing and bioinformatics course) to increase the skilled workforce. 

• Senegene project (West Africa):

Senegene is a non-profit initiative in Senegal that works on rare genetic diseases. Their objectives include precise genetic diagnosis, genetic counseling, building human capacity, and maintaining a genomic + phenotypic database. 

• H3Africa consortium:

This is a large pan-African network (Human Heredity and Health in Africa). It supports projects in African genomics, including rare disease diagnostics, data sharing, funding of labs, and training of scientists.

• African Ancestry Link (AAL): 

African Ancestry Link (AAL) is a nonprofit bridging the gap in global genomics by reconnecting Africans and the diaspora with their heritage and health through DNA. Our initiatives include DNA On Wheels mobile clinics, free testing campaigns, and the upcoming 3HHH app that combines ancestry with wellness tools. Intending to test more than 10,000 people annually by 2030, African Ancestry Link (AAL) is building a robust African DNA database that enhances both cultural identity and medical research. Our work is unique in blending heritage discovery with health education, especially for underserved communities. You can support our mission by sponsoring a DNA kit or donating directly to African Ancestry Link.

Barriers to Genomic Inclusion in Africa

• Funding and infrastructure:

  Good genomic sequencing, computing power, and labs cost money. Many African countries have limited budgets, underfunded health systems, or a lack of stable power, logistics, etc. 

• Skilled workforce:

  There is a shortage of trained geneticists, bioinformaticians, and clinical geneticists. Programs like KEMRI’s training course aim to fill this gap.

• Ethical, legal, and social issues:

  Data ownership, consent, benefit sharing, privacy. Historical abuses have reduced trust in some communities. 

• Lack of local demand/policy support:

  Research is sometimes shaped by priorities of funders elsewhere. Many health systems do not yet integrate genetic testing into standard diagnostics. Governments may have other urgent priorities. Also, regulatory frameworks may be weak or unclear.

How Africa Can Lead in Genomic Inclusion

1. Increase funding:

   Governments in Africa can budget for genomics infrastructure. International funders (NIH, Wellcome Trust, etc) can also partner with local institutions. Public-private partnerships can help buy/operate sequencing machines and sustain labs. Also grants for upkeep, reagent supply, and data analysis resources.

2. Build capacity:

   Expand training programs in genetics, laboratory techniques, and bioinformatics. Use regional centers of excellence. KEMRI’s training, for instance, trains lab analysts, technicians, and scientists. Scholarships, workshops, and online courses help.

3. Ethical, inclusive research frameworks: 

   Ensure that research projects include African scientists as leads, consent is meaningful, communities are informed, and benefit sharing is clear. Make sure data is used in ways that benefit local healthcare and policies.

   
   

4. Data sharing and collaboration:

   Build open reference panels and databases. Make sure African researchers lead or co-lead. Use shared platforms. Example: KEMRI-Wellcome Trust’s projects (GeMVi etc.) link sequence data with modeling, engage health authorities. 

5. Integrate genomics into healthcare:

   Introduce genetic diagnostics for diseases common in Africa. Use sequencing for pathogen surveillance, disease outbreak tracking. Use genomic data to tailor treatments.

6. Policy support:

   Governments can create policies that support genomics: for funding, regulation, incorporation into national health plans, and ethical oversight.

Why Genomic Inclusion in Africa Benefits the World

Genomic inclusion in Africa is not only a regional priority. It matters for everyone. Diseases do not respect borders, and genetic variants found in one part of the world can affect populations everywhere.

Treatments designed mostly for European ancestry sometimes fail or even cause harm in others. Including African genomes gives us a fuller picture of human biology, which leads to better science, stronger public health, and more effective global disease prevention.

More inclusive data improves the accuracy of tools like polygenic risk scores, which help predict conditions such as diabetes or heart disease. It also opens the door to new discoveries. For example, African populations carry unique genetic variants that could reveal new drug targets or pathways for vaccines. When Africa is included, the entire world gains.

African Ancestry Link and the Future of Inclusive Genomics

Africa holds enormous but underused genetic diversity. Without inclusion, health disparities will continue to widen, but with the right efforts, progress is possible. 

This is why at African Ancestry Link (AAL), we are bent on reconnecting Africans and the diaspora with both heritage and health through initiatives such as DNA On Wheels mobile clinics, free DNA testing campaigns, and the upcoming 3HHH app that blends ancestry with wellness tools. 

Our ambition is to test more than 10,000 people annually by 2030, building a robust African DNA database that fuels both cultural pride and medical research.

We want to combine heritage discovery with health education and help underserved communities understand and use genomics in practical ways. 

Supporting this work accelerates inclusive genomics for Africa and the world.

You can be part of this mission by sponsoring a DNA kit by donating directly here