54gene, the health technology company advancing African genomics research for improved global health outcomes, has through its non-profit initiative, the African Centre for Translational Genetics (ACTG), completed its first consortium-led publication on over 100,000 Nigerians as commissioned in 2020 at its launch.

The Non-Communicable Diseases Genetic Heritage Study (NCD-GHS) consortium has published a paper in the esteemed journal, Nature Genetics, entitled “Promoting the Genomic Revolution in Africa through the Nigerian 100k Genome Project”.

Through 54gene’s ACTG, the consortium operates as a unique public-private partnership involving leading African scientists guided by a team of global genomic leaders as the Scientific Advisory Board to achieve the mission of the ACTG.

The consortium, which is made up of scientists from 54gene, the Nigerian Institute of Medical Research, and the Center for Genomics Research and Innovation at the National Biotechnology Development Agency as well as researchers from multiple academic institutions in Nigeria and London School of Hygiene and Tropical Medicine, is built on a shared vision of positioning African populations to benefit from advances in genomic science.

According to the paper, as of January 2019, approximately 3% of genomic data being used for genome wide association studies (GWAS) came from people of African descent, with this statistic dropping to 1.1% in 2021.

The paper details efforts in building an important resource that could significantly enable African populations to benefit from the global efforts at achieving precision medicine for various diseases.

This has been achieved through the production of a comprehensive catalog of human genetic variation, examining the characteristics of non-communicable diseases (NCDs) in 100,000 adults in Nigeria seeking to understand the genetic basis of the highly prevalent illnesses such as cancers, diabetes, Alzheimer’s, chronic kidney and sickle cell disease, among others.

Non-communicable diseases (NCDs) kill more than 41 million people every year, accounting for 71% of all deaths globally. The prevalence of NCDs is projected to become higher than that of infectious diseases in Africa by 2030.

The study spans the breadth of the Nigerian population with data gathered from the 6 geopolitical zones in the country and sampling from the majority of the more than200 ethnolinguistic groups, with ethically consulted participants being recruited falling under two categories: disease cases recruited from disease specialist clinics, and community cases which are individuals with initially unknown diseases recruited from communities through household surveys.

Dr. Abasi Ene-Obong, 54gene Founder and CEO, said, “Along with our partners, we are proud to be leading the new frontier of African genomics. Precision medicine goes against the one-size-fits-all approach to disease treatment as it is more inclusive, with people treated on their unique genetic makeup.

With more than 200 ethnic groups and 500 different languages, Nigeria has one of the most diverse ethnolinguistic concentrations in the world. This pioneering study from the Nigerian population provides an excellent window into the representation of diversity across Africa.

With recruitment nearly complete and the commencement of data generation and bioinformatics analysis, we are excited at how this study makes the promise of precision medicine more attainable to Nigerians, Africans and the global population.”

Dr. Segun Fatumo, co-lead NCD-GHS and the first author of the landmark paper said, “I am so proud of what NCD-GHS has achieved in only about two years. In our own eyes, 100K genomes of Africa are emerging from more than 300 diverse ethnic groups in Nigeria.

“The current lack of genomic diversity has resulted in significant missed scientific and medical opportunities, but NCD-GHS strategic vision to drive new large-scale studies with rich African genome datasets would  help fill some gaps. I am deeply honoured to be a co-lead of this initiative.

“The NCD-GHS’s public-private partnership with 54gene pioneers a model to increase diversity in genomic studies, including capacity building and plan to develop more genomic leaders in Africa.”

Speaking on the publication of the research paper, Colm O’Dushlaine, Vice President, Genomics and Data Science at 54gene, said, “The 100k project supports 54gene’s core mission to equalize precision medicine, by building rich genomic datasets that will be used to generate powerful insights for the benefit of African, and other global populations.

“African populations are among the most diverse in the world. In the context of genome-wide association scans, more variation – more shots on goal – can help to provide new insights into the etiology of disease and drive novel therapeutic target discovery.

“The broader strategic objectives of the NCD-GHS are far-reaching. They include a focus on the creation of genomics leaders in Africa, efforts to increase the number of skilled African genomics scientists to help drive new studies and discoveries, initiatives that drive progressive health policy and practice, and the promotion of discourse and thought leadership on ethical, legal and social issues in genomics research and precision medicine. All of these are central to 54gene’s mission and values.”

Aminu Yakubu, VP Research Governance and Ethics, said, “Building on the legacy of the H3Africa project, the capacity building objective of the NCD-GHS in the 100K Genome Project is a strategic undertaking that would catalyse the future we envisage – of Africans with the skillset and knowledge, able to lead genomic insights generation and development to address health challenges faced by Africans over the long haul.

“It is a people-facing impact creation initiative that puts the social value of the work we do at the center, facilitated through the African Center for Translational Genetics. The focus of one of the NCD-GHS agendas on governance and ethics was deliberate to ensure that we are aligned with existing country-specific and international best practices.

“Our commitment to also support academic thought leadership on ethics and governance issues in genomics research would allow us to evolve as we learn of better ways to protect the welfare of research participants and ensure fairness in research collaborations.”