Genomic medicine applications have the potential to improve health care. Understanding how genes and environmental factors can cause disease can lead to earlier diagnoses, interventions, and effective treatments. Although the Human Genome Project was completed in 2003, and has enabled rare disease research and furthered genome sequencing, it is still missing genomic data.

Most genomic data used for development research is from Europe, the U.K., and North America with African genomic data accounting for less than 3%. Africa remains largely underrepresented in genetic studies despite its role in our evolutionary past, vast population, and genetic diversity. The lack of genomic data limits not only the health care of specific regions and countries in Africa, but also limits the health care and research across the globe.

With over 54 countries, the genetic diversity in Africa can provide insights into human evolution and common diseases. Africa is an important region to study human genetic diversity because of its population, and variation in climate, diet, and exposure to infectious disease. We have previously reported about the genetic variation found among people in the same region and country. Researchers found an “impressive breadth of genomic diversity among genomes, and each ethnolinguistic group had unique genetic variants.” The researchers also stressed that not only would genomic research help aid in understanding the diseases in Africa, but it can also give a global understanding of population history, environmental adaptation, and susceptibility to diseases.

Another example of why improving the lack of African genomic research is so critical, is a 2019 genome-wide analysis of type 2 diabetes in sub-Saharan African populations. The findings resulted in the discovery of a previously-unreported gene, Zinc Finger RANBP2-Type Containing 3. The findings of the study further demonstrate why it is important to study all human populations, which will not only provide the opportunity to help the specific populations, but the global population as well.

Africa has a population of 1.3 billion, with Nigeria having the largest population of 200 million. In the last two decades, Africa has succeeded in decreasing some diseases such as cholera and polio, but others such as HIV and malaria remain high. A combination of public health strategies and genomic research would be beneficial for identifying genetic risk factors, potentially leading to the development of more effective treatments and precision medicine, and reducing the high disease burden.

Despite Nigeria’s population position in Africa, it is highly underserved in the area of health care. Personnel and medical equipment are inadequate, especially in rural areas. Most of the available qualified doctors are concentrated in urban cities and towns, while the rural areas are lacking.

An illuminating collaboration 

A recent collaboration may have the potential to greatly impact health care and genomic research in Nigeria. Illumina, a U.S.-based genetics company recently announced that it is collaborating with 54gene—a U.S. and Nigeria-based health technology company whose mission is is to advance precision medicine capabilities in Africa through research, advanced molecular diagnostics, and clinical programs—to create a genomics facility in Lagos, Nigeria.

54gene, named after the 54 countries in Africa, was started in 2019 by founder and CEO, Abasi Ene-Obong, PhD. Ene-Obong was recently named as one of the honorees in the Fortune 40 Under 40 list, as one of the leaders recognized for his company’s work in the healthcare space globally. Ene-Obong was born in Nigeria and has extensive experience operating in the United States, U.K., and Nigerian healthcare industries. With a master’s in business and management, human molecular genetics, a PhD in cancer biology, and experience working with leading health care organizations, Ene-Obong is set to bridge the gap.

The collaboration will support the establishment of a new genetics facility in Lagos, Nigeria, equipped with a suite of Illumina’s sequencing and high-density microarray technology platforms. Through the partnership, tissue samples can be analyzed locally, which will reduce costs and turnaround time for test results. 54gene’s sequencing-based research and molecular diagnostics capabilities will also be expanded.

The facility adds to the list of those working to empower African researchers to overcome the challenges of genomic data and infectious diseases such as the H3Africa consortium funded by the National Institutes of Health and the Welcome Trust, and the African Center of Excellence for Genomics of Infectious Diseases funded by the World Bank.

Paula Dowdy, Illumina SVP, and general manager of Europe, the Middle East, and Africa (EMEA), explained: “It’s incredibly important to ensure equitable access to genomic sequencing technology across the world so that genomes can be interpreted in the context of global diversity. Through partnerships such as this one with 54gene, we aim to remove barriers of access to sequencing and expand the benefits of genomics to as many people as possible.”

Ene-Obong noted, “The addition of Illumina’s cutting-edge technology to our research and diagnostic capabilities is a critical step for 54gene in fulfilling our mission of equalizing precision medicine. This is part of our wider commitment to building capacity and infrastructure in Africa which will allow us to significantly expand genomics research, while also improving health outcomes on the continent. Alongside our many partners in the African medical and scientific community, we want to make advanced molecular diagnostics more accessible to the region, while creating hundreds of skilled jobs in molecular biology and bioinformatics.”

From left to right: Benjamin Otchere (AGBL), Claudia Hasche (Illumina), Rodophe Vetchenou (Illumina), Priscilla Abechi (AGBL), Xavier David (Illumina), Jumi Popoola, PhD (54gene), Mohamed Ben-Marzouk (AGBL), and Abasi Ene-Obong, PhD (54gene). [54gene]
Through the collaboration, African samples stored in 54gene’s de-identified biobank will be genotyped, sequenced, and analyzed without the need to send samples overseas, reflecting Illumina’s commitment to enabling Africa to expand its genomic capabilities. Illumina will also deliver its renowned training to support the use of its sequencing and microarray equipment and ensure ongoing support for 54gene’s growing team of molecular scientists.

Genomic analysis provides opportunities for new approaches to therapeutic development, health care delivery, and population health management. The new genomic facility has the potential to further advance 54gene’s goal of reducing the genomics divide between Africa and the rest of the world. Further partnerships and initiatives such as this will not only will advance African genomic research and bridge the gap, but also has the power to improve our knowledge and health care worldwide.

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