How Africa’s genetic diversity can be harnessed to close the continent’s ‘drug and treatment gap’ – Genetic Literacy Project

I have begged to just die.

Those were the words of Sadeh Sophia, a sickle cell disease patient. Although living in the UK, she suffers from the genetic blood disorder that primarily targets Africans, SCD globally affects 25 million people, mostly in equatorial countries across Africa, the Middle East and Asia. The World Health Organization reckons that circa 300, 000 people are born with sickle cell disease. There is no cure.

Sub-Saharan Africa is the diseases epicenter. As many as 40% of the population in some African countries carry the trait. About 1,000 children in Africa are born with SCD every day, and more than half will die before they reach 5 years old.

Yet, the African genome, which could yield critical clues to the development of life-saving malaria drugs and medical treatments, has been vastly understudied. How can this be changed?

The diseases affecting Africans differ significantly in severity, scope and distribution from those that affect inhabitants of other regions. These are due to a variety of factors, including genetics, economic development, political stability and even cultural norms. One example of such a disease is polio which was endemic in Nigeria, Afghanistan, parts of Asia and most countries in Africa (presently, Pakistan and Afghanistan are the only polio-endemic countries).

Malaria, transmitted by the Anopheles mosquito, which disproportionately affects Africans, is largely linked to geographical location, hygiene conditions and economic development. It claims the life of a sub-Saharan African child every two minutes. The haemoglobinopathies and sickle cell trait (HbAS) confers protection from the lethal manifestation of malaria. The vital aspect is the mutation that causes sickle cell disease which leads to a 90% risk reduction of severe Plasmodium falciparum malaria across sub-Saharan Africa.

Africa has the fastest growing and youngest population in the world, with more than 1.14 billion people. Its also the worlds poorest region, According to current population trends, with its most populous country, Nigeria, known as the worlds poverty headquarters. Although the need for advanced drugs is critical, the government and the people are too poor to afford them in the quantities necessary to make a dent in the problem. No wonder many drug makers do not consider the continent when investing in new drug development.

Advances in genetics are opening the door to addressing the African drug desert. Starting about 100,000 years ago, humans began migrating out of Africa, kick-starting a mass exodus to other parts of the world (pre-humans made their way out millions of years earlier). Today, most non-Africans trace their ancestry to their forbears in Africa. The reason why humans emigrated from the continent is not disconnected from the basic human behaviour of moving in search of resources: land, food and water became scarce as the climate changed. According to researchers who have studied various modes of migration movements, humans emigrated based on those universal needs.

The Human Genome Project, initiated in 1991 and completed 13 years later, aimed to map out the entire set of human genes to provide the world with information on the basic set of heritable factors required for the development and functioning of humans. Its been a boon to medical research and drug development. However, a focus on populations in wealthier countries has led to a lack of proper understanding of health issues that affect poor nations, most of which are in sub-Saharan Africa. Less than 2% of human genomes analysed so far have been African, notwithstanding the fact that Africa, where modern humans emerge, harbours more genetic diversity than any other continent.

Previous genomic sequencing projects have not completely captured the immense level of diversity that exists within populations throughout the region. In a bid to further unravel Africas genetic diversity, scientists from the African Society of Human Genetics, the US National Institutes of Health (NIH) and the Wellcome Trust (WT) formed a consortium that led to the founding of what is known as Human Heredity and Health in Africa (H3Africa), which seeks to understand disease susceptibility and how it affects drug responses amongst the African populace. It focused on common, non-communicable disorders such as sickle cell and heart disease, as well as communicable diseases such as tuberculosis.

H3Africa has led to the creation of biorepositories, investigation of non-communicable diseases affecting Africans and training of the next generation of bioinformaticians. Its potential to address diseases disproportionately affecting Africans is enormous.

But there are also tangible benefits to the rest of the world. One of the great mysteries of the current pandemic is why sub-Saharan Africa has emerged as a cold spot for serious COVID despite a fractured and overwhelmed medical infrastructure. Such an initiative could explain the genetic diversity and composition of sub-Saharan Africans who were less impacted from the lethal outcomes of the coronaviruscritical information about human genetic differences that could lead to the development of future treatments for non-African populations as well..

Drug discovery and development is a long, cumbersome, risky and expensive process. Recent studies show that the estimated cost for discovering and developing a drug from laboratory benches to shelves is circa $2.6 billion and rising. As an example, in cancer research, greater than 95% of drug candidates do not successfully pass the testing phases. The industry relies on blockbuster drugs revenues to fuel research future treatments and/or cures. The economics behind this model incentivizes industry players to research diseases that afflict richer nations as opposed to those which burden poorer countries. Thus, this model has seen poorer countries diseases under-studied, which leads to fewer drugs treating ailments that beset their citizens. While some pharmaceutical companies compete in doing good by donating medicines or sub-licensing them to generic firms, this altruism does not address the lack of effective medicines against infirmities that disproportionately affect the poor, the vast majority domiciled in sub-Saharan Africa.

Developing the research capacity of low- and middle-income countries (LMICs) is therefore criticalone of the main impetuses for H3Africa. Wealth is the fundamental driver of drug development, but there is a limit to which poor countries can fund basic medical research. In the US, cystic fibrosis enjoys a 75-fold upper hand in charitable funding for research compared to sickle cell disease, partly because the bulk of the SCD patients live in other regions.

But as more Africans emigrate out of the continent for greener pastures, there has been a rise in diseases common to Africa that are showing up elsewhere. Thus, it behooves philanthropists, especially those of African descent, to donate to research studies that aid in ameliorating the under-study of ailments that affect them. Now one-sixth of the people on Earth, based on current demographic trends, Africa will likely be the home to one-in-three people by 2021, thus implying a significant segment of the worlds populace will be bereft of life-saving drugs.

There is a limit to providing solutions for diseases that disproportionately burden Africans, especially those south of the Sahara Desert, by just conducting studies and collating results. Although the African Genome Project contributes greatly by outlining in depth the genomes of Africans, it does little to address the specific issue of the dearth of medicines for maladies that afflict inhabitants in the sub-region.

Researchers involved in the H3Africa understandably want to ensure that African countries retain the control of the treatments developed. There are concerns about data theft, histories of mistrusts and secrecy regarding the use of such data and samples. But it is also important that pharmaceutical companies and entrepreneurs, regardless of nationality and race, have access to the data to aid in drug development. It would be akin to throwing the baby with the bathwater to not allow access to refine treatments and help develop manufacturing and distribution capacity.

Fortunately, many companies are now entering the space, such as 54Gene, Africas top DNA research start-up, which has received venture capital of more than $45 million since its founding. Efforts are aimed at not just collating samples but developing a pipeline of drugs for conditions that afflict sufferers. Such initiatives will ensure that the genetic diversity of Africans will contribute significantly to drug discovery and development.

Uchechi Moses is an aspiring plant biotechnologist based in Akwa Ibom, Nigeria. He holds a BS in Genetics and Biotechnology and writes about how capitalism and science can provide food security and prosperity for the next generation of Africans. Follow him on Twitter @UchechiMoses_

View post:
How Africa's genetic diversity can be harnessed to close the continent's 'drug and treatment gap' - Genetic Literacy Project