Researchers have compiled a comprehensive catalog of genetic variation in 100,000 Nigerian adults.
The aim of the ‘100K Genome Project’, launched in 2020, is to understand the genetic basis of non-communicable diseases (NCDs).
These extremely common illnesses – such as cancers, diabetes, Alzheimer’s, chronic kidney disease – kill more than 41 million people every year, accounting for 71 per cent of all deaths globally.
The prevalence of NCDs is projected to become higher than that of infectious diseases in Africa by 2030.
The study
The 100K Genome Project was led by Nigerian health technology company 54gene through its non-profit initiative, the African Centre for Translational Genetics (ACTG).
A paper on the research details efforts in building a resource that could significantly enable African populations to benefit from the global efforts at achieving precision medicine for various diseases.
The Non-Communicable Diseases Genetic Heritage Study (NCD-GHS) published the paper on May 9 in the journal Nature Genetics, titled ‘Promoting the Genomic Revolution in Africa through the Nigerian 100k Genome Project‘.
The NCD-GHS 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 scientists are from 54gene, the Nigerian Institute of Medical Research, and the Center for Genomics Research and Innovation at the National Biotechnology Development Agency and researchers come from multiple academic institutions in Nigeria and London School of Hygiene and Tropical Medicine.
Dr Abasi Ene-Obong, 54gene founder and CEO, said: “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.”
Background
Africans have the most diverse genomes of all human populations.
However, only limited genomics data from Africans are currently available to inform the development of disease prevention strategies, early detection tools and treatment options for people with non-communicable diseases.
As of January 2019, only about three per cent of genomic data being used for genome wide association studies (GWAS) came from people of African descent, with this statistic dropping to 1.1 per cent in 2021.
Speaking on the publication of the research paper, Colm O’Dushlaine, vice president, genomics and data science at 54gene, explained that 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 vice president added that 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.”
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.
Dr Segun Fatumo, co-lead NCD-GHS and the first author of the landmark paper said: “In our own eyes, 100,000 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.”
Ethically consulted participants were 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.
Aminu Yakubu, vice president of research governance and ethics, said: “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.”
