The role of 54gene in healthcare advancement for global populations
To date, Africa remains underrepresented in global genomics research and innovation. Even though its populace possesses the most varied genetic profile on earth, its potential has been greatly overlooked. With less than 2% of genetic research focusing on African subjects, science has yet to breach the surface of knowledge that lies in wait.
Why is the African continent so genetically diverse?
Africa is made up of 54 countries (hence the “54” in 54gene) and more than 2,000 linguistic groups, which account for nearly one-third of the world’s languages. In many cases, each language correlates to an ethnolinguistic tribe that has typically participated in intra-ethnic marriage for nearly 200,000 years. Till today, many of these tribes have married and still marry and reproduce amongst each other, resulting in many genetic variations conserved within African sub-populations.
Why is this important?
In the age of personalized medicine, genetic variation is what researchers often search for to enable easy identification of drug discovery targets. Since African genomes are underrepresented in these studies, there’s a chance that many of the new personalized therapies and diagnostics will be less effective when administered to people of African origin. In addition, studying the African genome can uncover variations that will lead to new drug discoveries and benefit people of all races. (And there is precedent for this)
What are we doing about this?
At 54gene, we are building diverse datasets to unlock scientific discoveries and improve diagnostic and treatment outcomes within Africa and the global community. Our mission is to deliver on the promise of precision medicine for Africans and the global population, by bridging the disparity gap in genomics data.
We aim to do this with the aid of our business lines – Drug discovery, Advanced molecular diagnostics, and Clinical programs – all specifically inclusive of African populations and by partnering with other mission-driven organizations to enable global access to precision medicine for all.
Additionally, our proprietary Genomics Infrastructure & Insights Ecosystem (GENIISYS™) platform contains highly curated genetic, clinical, and phenotypic data from which we generate insights that lead to new treatments and diagnostics. It is essential to point out that all participants in our biobank contribute their genetic material voluntarily, and we follow all internationally recognized standards to ensure data privacy and security.
With the aid of investors and partners such as Y Combinator, Cathay AfricInvest, KdT Ventures, Endeavor Capital, Techammer, and many more in support of our vision, we believe that the future of global genomics will be built in Africa. Furthermore, we’re grateful to have found partners who are committed to making our shared dream a reality.
What the future holds for us?
After recently completing our Series B funding round, we launched our diagnostics subsidiary, 7RiverLabs. The diagnostic hubs fitted with state-of-the-art technology offer healthcare providers and patients access to world-class, cost-effective, speedy, reliable, and advanced molecular diagnostics.
Now, over 300 critical molecular tests can be performed safely and securely in Africa – covering oncology, infectious diseases, women’s health, prenatal and newborn screening, cardiovascular and lifestyle check, and genetic testing. With these diagnostics services now available in-continent, physicians will now be able to detect and prevent diseases earlier and help to improve patient treatment outcomes and quality of health.
7RiverLabs’ diagnostic access-points are currently available across 4 Nigerian cities – Lagos, Abuja, Oyo, and Kano, soon to expand to 10 more in the coming months. The subsidiary has already begun its pan-African expansion with the addition of a new access-point in Kenya.
The creation of this new subsidiary also allows 54gene to continue its important work of understanding human genetic diversity and translating genetics-driven insights and discoveries to serve the global good.
The ACTG and our first publication in Nature Genetics – The 100,000 Genomes Project
The African Center for Translational Genomics (ACTG) is a non-profit initiative established by 54gene for the advancement of genomic research, knowledge and resources within the African continent.
Its objectives are aimed at growing research resources within the continent to enhance Africa’s competitive advantage globally in genomics by investigating disease drivers and empowering the next generation of African scientists through grants, fellowships and internships.
In a one of a kind initiative, 54gene, with collaborators from the Nigerian Institute of Medical Research (NIMR) and the Center for Genomic Research & Innovation at the National Biotechnology Development Agency (NABDA-CGRI) formed the Non Communicable Diseases Genetic Heritage Study (NCD-GHS) Consortium. The work of the Consortium is being funded by the ACTG with support from 54gene.
The NCD-GHS consortium is a Public-Private partnership that seeks to harness the genomic potential of the ethnolinguistic diversity of Nigerians towards better understanding of the determinants of NCDs and development of new solutions to improve their management for the benefit of Africans and other global populations.
On May 10th, 2022, the consortium announced the completion and publication of the 1st phase of its landmark Nigerian 100K Genomes Project i.e. Non-Communicable Diseases Genetic Heritage Study (NCD-GHS) in Nature Genetics Journal. The paper was titled “Promoting the Genomic Revolution in Africa through the Nigerian 100k Genome Project.”
The study details the importance of building a genetic resource to ensure African populations benefit from global drug discovery efforts aimed at achieving precision medicine for various diseases.
The consortium took a crucial step to achieve this by initiating the production of a comprehensive catalog of human genetic variation to examine the characteristics of non-communicable diseases (NCDs) in 100,000 adults in Nigeria, and to understand the genetic basis of highly prevalent diseases such as cancers, diabetes, Alzheimer’s, chronic kidney and sickle cell diseases, etc.
NCD-GHS will serve as a template for large-scale genomics studies to be emulated across the continent, helping to drive new target discoveries, informing advances in precision medicine, and bringing genomic insights that will improve the health and wellbeing of Africans and global populations.
To ensure that people of African descent enjoy the benefits of genomics i.e. early detection of diseases, better diagnosis, and improved drug design; more investigatory research into the African genome such as the NCD-GHS need to be carried out in-continent.
To read about the full insights derived from the Nigerian 100K Genome Project’s initial phase completion, click here.
