54gene completes genetics study of 100,000 Nigerians to boost precision medicine

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.

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

“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,” Abasi Ene-Obong, 54gene Founder and CEO, said.

According to Colm O’Dushlaine, Vice President, Genomics and Data Science at 54gene, 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.

The consortium is built on a shared vision of positioning African populations to benefit from advances in genomic science. It 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.

Founded in 2019, 54gene helps to improve the understanding of the world’s most genetically diverse population with the use of human genetic data from diverse African populations, to improve the development, availability and efficacy of medical products that will prove beneficial to Africans and the wider global population.

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

The paper details efforts in building an important resource that could 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 percent 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 six geopolitical zones in the country and sampling from the majority of the more than 200 ethnolinguistic groups, with ethically consulted participants being recruited falling under two categories.

They include disease cases recruited from disease specialist clinics, and community cases which are individuals with initially unknown diseases recruited from communities through household surveys.

“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,” Segun Fatumo, co-lead NCD-GHS, said.