Tapping into the massive potential of African genomes: 54gene

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February 22, 2020 – Genetic studies rely almost entirely on genomes from people of Caucasian descent. While all around the world, tissue and blood banks have sprung up to catalog human genome’s many mysteries, this was not the case for Africa. Until now, one might add, since a startup company called 54gene wants to fix that, and fast.

In fact, about 80 percent of the human DNA used in genetic studies comes from people of European descent. When researchers survey vast numbers of genomes to unearth a disease’s genetic causes, they use almost no African data. Pharmaceutical companies, too, develop new drugs based overwhelmingly on the genomes of Caucasians. It seems that the genomic revolution has left Africa behind.

According to Abasi Ene-Obong, who studied cancer biology at the University of London and who is the founder of 54gene, there is currently a huge gap in genetic information originating from African populations.  His Nigeria based company, located in the Lagos Metropolitan Area, secured $4.5 million in seed funding last summer to start filling that gap. As a starting point, the company was on track to collect 40,000 specimens from African descendants by the end of 2019, and 200,000 specimens by the end of 2020. If it reaches that number, 54gene would be competitive with some of the biggest biobanks in the world. The declared goal of the company is to make African genomics available to the world to power drug discoveries that can treat people of all ethnic origins.

In order to get its genomic specimens, 54gene is working with 17 hospitals across Nigeria, targeting patients with cancer, cardiovascular disease, metabolic conditions, neurodegenerative disorders, and sickle cell disease. The company piggybacks onto ongoing studies at those institutions, working with research assistants to recruit volunteers, obtain their consent, and collect specimens, i.e., blood, tumor tissue, and saliva. When 54gene starts processing its samples next year, researchers at those hospitals will get to see their patients’ genetic data, and in turn, 54gene will get access to those individuals’ health records.

The company’s growing collection could potentially prove even more valuable than existing biobanks. Because humans have lived there longer than anywhere else, African populations harbor the greatest genetic diversity in the world. Thus, Nigeria alone boasts >250 unique ethnic groups whose genetics have been conserved over millennia. African ancestry populations have a unique history that makes them incredibly useful for pinpointing the variants that are driving disease. A point in case could be the history of the development of the  PCSK9-inhibitor class of newly approved cholesterol-lowering drugs (i.e, Evolocumab (Repatha) and Alirocumab  (Praluent)  that came out of the discovery, a decade ago, of a woman of African descent who was an extremely rare compound heterozygote carrying two mutant copies of the  PCSK9 gene involved in lipid metabolism.
Generally scientists know comparatively little, for example, about the more complex genetic risks that individuals of non-Caucasian descent may face. If one knows that one is at high risk of, say, breast cancer, prostate cancer, or cardiovascular disease, one can take preventive steps, such as getting screened more often or going on cholesterol-reducing drugs. This is a basic function of population history. The farther away one is getting from a population that is genetically well studied, one is more and more at loss to understand which genetic variants are contributing are one’s disease phenotype and which targeted therapeutic options potentially would exist. These biases were documented in a recent perspective in Nature Genetics warning that without major attempts to diversify global genetic databases, advances in disease prediction will only benefit Caucasian populations.

In line with 54gene’s initiative and eventual business approach, some efforts to diversify the world’s genetic data are already underway, including the National Institute of Health (NIH)’s All of Us Program in the United States, which aims to sequence one million Americans, mostly from otherwise underrepresented populations ethnic minorities. In Africa, the most notable investment is the Human Heredity and Health in Africa Initiative, or H3Africa. H3Africa’s three biobanks are currently supporting more than 50 projects that will eventually generate genetic data on 50,000 individuals.

54gene’s biobank should eventually be much bigger. While for now, 54gene is only collecting specimens in Nigeria, is in talks with three other African countries to set up additional biobanks. As it expands, 54gene will have to grapple with Africa’s long, uncomfortable history of biomedical colonialism, in which foreign entities have plundered the continent for its biological resources without recompense. There’s no guarantee that this time the discoveries enabled by African blood will come back to the people there as life-saving medications. It would certainly be a genial development when around 54gene and its biobank(s) an African genre of pharmaceutical industry would emerge, possibly also taking into account genetic backgrounds of successful treatment by traditional medicines of complex disease phenotypes.

See here a short sequence on African genetic diversity:

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About the Author
Joseph Gut - thasso Ph.D.; Professor in Pharmacology and Toxicology. Senior expert in theragenomic and personalized medicine and individualized drug safety. Senior expert in pharmaco- and toxicogenetics. Senior expert in human safety of drugs, chemicals, environmental pollutants, and dietary ingredients.

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