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Nigerian 100K Genome Project initial phase completed

This week holds incredible and long-awaited news for worldwide communities; the pioneering Nigerian 100K Genome Project’s initial phase has been completed. This was undertaken by Nigerian health technology company 54gene through its non-profit initiative, the African Centre for Translational Genetics (ACTG).

In this phase, they formed the Non-Communicable Diseases Genetic Heritage Study (NCD-GHS) consortium, a network of scientists and global genomic leaders with a shared vision of making precision medicine more attainable to Africans.

A paper, recently published in Nature Genetics, details the importance of filling the gap in the availability of and access to genomics data, and of placing African scientists at the forefront of discovery in the genomics space.

Filling gaps in sequence data

Several initiatives have assumed to increase diversity in genomic studies. One of the most notable projects in continental Africa is the Human Heredity and Health in Africa (H3Africa) Consortium, the legacy that the NCD-GHS builds on. The consortium, launched in 2012, sought to improve the representation of African genomic data and collected genomic data from 70,000 participants. Even then, as of January 2019, only about 3% of global genomic data used for genome-wide association studies (GWAS) was obtained from people of African descent. In 2021, the statistics dropped to a shocking 1.1%.

As the authors stated, existing sequence data still does not represent the global DNA sequence diversity, and more samples are crucial for sparking a genomics revolution in Africa.

Powering translational medicine

The unique public-private partnership involves prominent African scientists guided by a Scientific Advisory Board of global genomic leaders, to support the mission of the ACTG. Scientists from multiple businesses and institutes, including 54gene, the Nigerian Institute of Medical Research, the Centre for Genomics Research, and the London School of Hygiene and Tropical Medicine make up the group. Together, they plan to produce a catalogue of human variation in 100,000 adults in Nigeria to bring the promise of precision medicine within reach of Nigerians, Africans, and the global population.

They will also assess the burden of non-communicable diseases (NCD) in Nigeria, and investigate the genetic basis of these diseases across the country’s diverse ethnic groups. As over 300 ethnic groups and 25% of the sub-Saharan African population call Nigeria home, this treasure trove of data serves as an excellent representation of genetic diversity across the continent.

Putting an end to Non-Communicable Diseases

NCDs include haematological cancers, sickle cell disorders, and a host of devastating neurodegenerative, cardiovascular, kidney, and metabolic diseases. In most of the world, they are the leading causes of death, accounting for 71% of all deaths globally. Without any intervention, sub-Saharan Africa will share the same fate by 2030, which, according to the study, would hinder efforts to attain the health-related Sustainable Development Goals set by the United Nations. Luckily, the consortium is hopeful that their endeavour will aid the prevention and treatment of NCDs, potentially improving the lives of millions across the globe.

Only the beginning

Another core objective of the NCD-GHS consortium is to empower the next generation of African genomic scientists, by offering internships and early-career fellowships, and funding PhDs and postdoctoral fellowships related to genomics research and discovery. How lucky are we to witness history in the making?

Written by Bethany Hoernfeldt, Science Writer

Image Credit: Canva