By Alison Buckholtz
Abasi Ene-Obong has always known that he’s at risk for diabetes. His father developed it 25 years ago, and several other family members throughout Nigeria, where Ene-Obong was born, have also been diagnosed with the disorder, which tends to run in families. “I always wonder if I’m next,” he said.
Ene-Obong’s family is far from unique: Diabetes affects Africans in numbers that are disproportionately high, compared to people in the rest of the world. But there’s relatively little research that explains what predisposes Africans, and people of African heritage across the globe, to be vulnerable to this condition.
Delving into the human genome for answers is one promising way forward. Genomic medicine is making an impact, but progress falters when it comes to diseases Black people are vulnerable to, because they are underrepresented in genetic studies and databases. Statistics tell the story: only about 2 percent of research is conducted on those of African ancestry. According to recent data focusing on this disparity, only about 19 percent of all published genetic research includes data from non-Europeans. This is true despite the fact that Africa contains much more genetic diversity than any other continent.
Abasi Ene-Obong (left), CEO of 54Gene.
Ene-Obong wants to help researchers develop treatments for kidney disease, prostate cancer, breast cancer, sickle cell disease, malaria, and other diseases that affect Black people in disproportionate numbers. To offer health-care data from Africa on par with other global markets and help researchers unlock the value in that data, he launched 54Gene, a private, Lagos-based genomics lab, in early 2019. (He named it after the 54 countries that comprise the African continent.)
Operating under strict protocols for data collection, informed consent, and privacy, the company collaborates with a network of Nigerian hospitals, health-care systems, and regulators to gather blood and tissue samples. The goal: build the country’s largest biobank, expand to other African nations, and partner with pharmaceutical biotech companies to “do science to solve problems.”
Investors are paying close attention. Last year, 54Gene was recruited to a Y Combinator accelerator program, chosen for the “Google for Startups” accelerator, and raised $4.5 million in seed funding from venture capital firms, a record for a Nigerian health tech startup. In April 2020, Adjuvant Capital, a life sciences fund backed by IFC, Novartis, and the Bill & Melinda Gates Foundation, invested $15 million.
“Our story has resonated because [people] understand how important this is,” Ene-Obong said. “The world is distributed but we are all interconnected.”
Why Diversity in Genomic Research Matters
Medical tests, treatments, and research that favors people of European ancestry is a long-standing inequity, said Charles Rotimi, a Nigerian-born geneticist who founded the African Society of Human Genetics. He has called studying African genomes both a scientific imperative and a matter of social justice.
The effort to map the human genome—a 13-year-project—was completed in 2003. It catalogues the roughly 3 billion “letters” that make up a person’s DNA, and in revealing the building blocks of life, it holds many keys to unlocking the mysteries of conditions and diseases that plague people around the globe.
Though the database of genomes that scientists use to conduct research keeps growing, the lack of genetic samples from Africans and people with African heritage means that they have been largely unable to benefit from medical breakthroughs. Further, they are at risk of being harmed by medicines that are not suited to their genetic composition, Rotimi said.
This shortcoming is acknowledged widely among scientists. In 2016, Nature declared that “A complex web of historical, cultural, scientific and logistical factors is sustaining an embarrassing bias in genomics….We must correct its course.” Earlier this year, the health news publication STAT spelled out the problem more bluntly: “The field of genetics has long been seen as too white — in its leadership, its data, and its products.”
Ene-Obong witnessed this dynamic first-hand a decade ago, as a graduate student in genetics and then a management consultant in the pharmaceutical industry. “When new drugs are launched across the globe, and market access programs are created, Africa was mostly excluded,” he remembered.
Including Africans in genomic research could transform a continent that faces large, unmet health needs, despite gains in health outcomes during the past 15 years. Although Africa makes up 16 percent of the world population, it carries 23 percent of the global disease burden. The World Health Organization estimates diseases cost the region $2.4 trillion a year from its gross domestic product value.
54Gene focuses on genomic studies for diseases that affect Africans disproportionately. In addition to non-communicable diseases, understanding the genetic basis for infectious diseases like malaria, which accounts for a high percentage of mortality across African populations, is an equally important research target. In one recent year, the region was home to 93 percent of malaria cases and 94 percent of malaria deaths.
Addressing the gap in the genomic database requires vast resources and long-term strategies from many different players. 54Gene is operating alongside several other institutions and initiatives with similar goals and funding sources of their own, such as H3Africa, a $176 million collaboration initiated by the U.S. National Institutes of Health, the Wellcome Trust, and the African Society of Human Genetics, and run by the African Academy of Sciences. In Abuja, the National Reference Laboratory analyzes DNA from 200,000 blood samples stored in a new biobank. And at Redeemers’ University in southwestern Nigeria, the Africa Center for Infectious Genomics Disease, funded largely by the World Bank’s Africa Centers of Excellence initiative, aims to control, manage, and eliminate infectious diseases in the continent.
Pursuing the “Global Genomic Good”
The private sector in Africa has a key role to play in the effort to introduce preventative medicine that benefits from genetic studies, said Delali Attipoe, Chief Operating Officer at 54Gene. “Only around 1 percent of drug discovery and drug development is coming from the African continent—the rest is coming from private players that are not residing in and don’t have a strong presence within Africa,” she said. “But in Africa you don’t have many private players. We want to fill that gap and drive indigenous drug development and drug discovery, as well as early research and development.”
Africa's pharmaceutical industry is valued at about $14 billion, according to a McKinsey and Company report, which added that “few markets in Africa are as potentially lucrative as Nigeria.”
Rotimi—who led the establishment of H3Africa and has been called the “godfather” of African genomics research—believes that within Africa’s genomics ecosystem there is a role for private, Africa-based and Africa-led genomics companies that conduct their work ethically. In the pursuit of what he calls the “global genomic good,” start-ups can “help bring genetic variation to the global database.”
To this end, a number of multinational pharmaceutical biotech companies are in the process of partnering with 54Gene, according to Ene-Obong. The company is also pairing up with research institutions and governments. Such partnerships have the potential to make genomics “the standard of care” in most African countries, he said, “leading to better access and outcomes for people regardless of whether they belong to rich countries or poor countries.”
Balancing Local and Global Demands
Although 54Gene’s business is global in scope, and a commercial team works from the United States, it has always been important for the company to be based in Africa.
“There is this concept called ‘helicopter science,’ which is when you have a group come into Africa and take the research resources out of the continent without giving anything back to the continent. That’s not us,” Ene-Obong said.
Operating full-time on the ground in Nigeria has been an important factor in gaining trust from patients and professionals alike. Issues of informed consent are important in Africa, and also among African-Americans, because of past cases in which researchers exploited participants and pharmaceutical companies conducted clinical trials under false pretenses and without compensating participants for their samples or the commercial products that resulted from the studies.
Ene-Obong pointed out that the company’s local knowledge makes it possible to “understand how to navigate the systems, how to translate best practices into languages that the various stakeholders understand.”
The necessity to operate locally as well as globally has been underscored by the COVID-19 pandemic. When the threat started to emerge—just as 54Gene was preparing to conclude its first round of fundraising, a significant milestone in the life of any start-up—the company turned a portion of its resources to supporting the Nigeria Centre for Disease Control. Since then, the company has become an accredited COVID-19 testing center. It also launched the country’s first COVID-19 mobile laboratory so that people in other states in Nigeria would have access to services.
“There’s never been a better time than now to do the work we're doing,” Ene-Obong said.
Published in July 2020