The Dark Matter of Genetics

Genetics

Illustration by Charles Owen / THE REPUBLIC.

THE MINISTRY OF SCIENCE

The Dark Matter of Genetics

From his mother’s community chemist shop in Enugu to a Toronto lab, Nigerian pharmacist Chukwunonso Nwabufo is building a device that could save lives by revealing how your genes respond to drugs, but his real revolution may be redefining what is ‘rare’ in medical research.
Genetics

Illustration by Charles Owen / THE REPUBLIC.

THE MINISTRY OF SCIENCE

The Dark Matter of Genetics

From his mother’s community chemist shop in Enugu to a Toronto lab, Nigerian pharmacist Chukwunonso Nwabufo is building a device that could save lives by revealing how your genes respond to drugs, but his real revolution may be redefining what is ‘rare’ in medical research.

It was a chilly Saturday in an already interminably frosty winter. January 2025 found most Ontarians resolutely huddled indoors and rarely ventured outside unless faced with no alternatives. Against the glacial sub-zero temperatures, Chukwunonso Nwabufo traipsed cheerfully toward the looming glass edifice that was the Maja Prentice Theatre in Mississauga after an hour commute from his graduate residence in downtown Toronto. Amidst the bustle of a university event, staffed by student volunteers, he took off his coat, centred himself and went over his notes. Shortly after 1 p.m., he stepped onto a spotlight on the theatre’s proscenium stage and began a well-rehearsed TEDx talk on how new technologies could change the face of drug prescriptions for the better.

ONEDRUG

Nwabufo’s thesis is simple, or at the very least, his talk presents it as such. Knowing a patient’s genetic makeup can help medical professionals tailor effective treatment plans. He presents his audience with one harrowing story to make his case. In February 2023, Dr. Anil Kapoor, a leading Canadian urologist diagnosed with cancer, passed away after taking one dose of a medication that ought to have extended his life. He had been screened for the medication before being prescribed it, but the screening had not included tests for a ‘rare’ genetic variant which would have made the drug toxic to him. But what exactly is rare? Rare from whose standpoint?

As the Canadian Broadcasting Corporation notes in a November 2023 article on the tragedy, ‘current pre-screening guidelines are based on studies that largely leave out populations that aren’t white.’ Considerations of what is rare and common are largely based on the genetic makeup of white populations. While distressing, Dr. Kapoor’s story is not a rare occurrence. The World Health Organization estimates $42 billion is spent on addressing Adverse Drug Events (ADEs), and it is the fourth or sixth leading cost of death globally. There are a variety of paths toward curbing ADEs, but the one Nwabufo advocates for, genetically guided prescriptions, is one that fits his research profile. It is also one that he is set to capitalize on via a new device set to hit the markets in 2026. 

When Nwabufo left Nigeria for graduate studies at the University of Saskatchewan in 2017, founding a company and revolutionizing prescription medicine were hardly on his vision board. Nwabufo was merely seeking an environment conducive for his goal of pharmacy research. Saskatchewan was a good fit at first, and then later, Gilead Sciences where he worked on developing medication for treating SARS-CoV-2 and HIV. Where the pandemic was a pressure cooker that upended dreams and ambitions, for Nwabufo, the pandemic would serve as a ramp to a PhD and becoming a leading researcher in pharmacogenetics. During his studies, he served as the chair of the American Association of Pharmaceutical Scientists, the largest association of pharmaceutical sciences from academic, regulatory, and pharmaceutical/biotechnology sectors with over 5,000 members worldwide. At the University of Toronto, Nwabufo would go on to publish groundbreaking research on SARS-CoV-2 and find a practical outlet for his research interests, OneDrug. 

In November 2021, Nwabufo began a medical technology startup called OneDrug. The startup’s main product is a ‘smart point-of-care pharmacogenetic test device’ that will allow healthcare professionals to take a swab of saliva and see how their patients’ genetic profiles might react to different medications. The pharmacogenetic test the device runs is already available at several medical labs. But even within Canada’s healthcare system, famed for its affordability and relative accessibility, there are cost and other logistical restraints that put it somewhat out of reach.

During our interview in his graduate residence, Nwabufo is impassioned as he describes how his device might help change that. He said:

We’re building this portable device that, if you were to come in today and you have depression and they’re trying to choose an antidepressant for you, they already have a panel of genes that they’re supposed to test according to the Clinical Pharmacogenetics Implementation Consortium and US Food and Drug Administration guidelines. They will just take that panel, take your saliva sample and run a quick test on it.

Once that test is run, the results can help healthcare providers prescribe drugs that avoid any genetic landmines. In jurisdictions where this information can be readily shared, the results can be used again and again by clinics even outside the one where the test was conducted to tailor the most effective medication regimens. Should the device clear the battery of tests and standards that the American and Canadian regulatory agencies have set up for medical devices, Nwabufo expects to have it available for widespread use by late 2026 in North America, and shortly after, around the world.

OneDrug is not just intended for the West, however. Nwabufo is invested in seeing it being used to revolutionize healthcare in Africa and Nigeria specifically. He tells me he is already exploring avenues to ensure it is affordable or, at the very least, within reach in Nigeria. In fact, one of the reasons he is late to our interview is that he was on a call with some pharmaceutical science researchers at the University of Lagos, with whom he is collaborating on a study they began in 2022. The study, which has found unique genetic mutations in some Nigerian populations, with yet to be determined clinical relevance, points to the need for more funding and research. Nwabufo stresses that there is still much to be researched about Africa’s genetic heritage. Research that can enable us to make better and more precise public health interventions. Already, there are questions their research is raising about allele frequencies, that is, how common or rare different genetic variants are within a particular population, and cancer in Nigeria.

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BLACK HEALTH

It is important that OneDrug is being imagined by a Black person, and by someone who grew up in West Africa. Science is often imagined to be an objective paradigm that sits above murkier ideologies like racism, sexism and other forms of discrimination. The scientific method, which is based on careful and repetitive experimentation, observation and analysis, is meant to always yield the best outcomes, regardless of who engages in it. However, we know from history that this is hardly the case. What questions are asked, how they are asked, and who is asking them matter. We know from the Tuskegee trials in Alabama, United States and the Pfizer Trovan trials in Kano, Nigeria, that healthcare discovery has come at great costs to Black people on the African continent and across the Atlantic Ocean. That which has been meant to heal us has often been used instead to kill us. And beyond the egregious extremes, it is hard to deny that Africa is only figured into such conversations in terms of how profitable the investment is considered, either materially (stocks, capital) or socially (awards, humanitarian acclaim). Nwabufo’s potential intervention in Africa’s pharmacogenetics, as a son of the soil, is something else. Something new and different from the usual narrative. It is hard not to feel swept up in his infectious excitement and enthusiasm as Nwabufo describes his work. It feels exciting on a macro scale, but also personally fulfilling, as though this has been a lifelong dream that is finally being achieved.

When I ask about the incongruity of moving to Canada to found a company that he hopes can revolutionize healthcare in Nigeria and around the world, he relates the challenges many Nigerian dreamers are faced with; navigating an unconducive environment. ‘I did my undergrad at UNIBEN, which is one of the top universities in Nigeria,’ he recalls to me, ‘but the reality is when I think about the labs there, I had to pay for my undergrad project out of pocket.’ This, he puts in contrast to his time at the University of Toronto where he has been able to pursue and complete a funded PhD, and launch a health tech startup due to the resources available. ‘Do you know about 54gene?’ he asks me wryly when I inquire about the sorts of challenges health tech startups might face in Nigeria. I look it up later, after we speak. There are muddled reasons for why what seems to have been a promised startup ultimately floundered; ones that go beyond just the usual local Nigerian frustrations. But what I take to be his meaning, whatever the diagnosis, is that it is difficult for unfettered ambitions of these sort to scale on the continent.

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While Nwabufo may not have set out to run a medical startup with global aspirations, listening to him describe his childhood, there are callbacks in his upbringing that suggest the twin imprint of both nature and nurture on his life’s work. Nwabufo who notes that he comes from ‘a medical background’ is most animated when he describes his holidays in Enugu alternating between his mother’s community chemist shop, and his father’s retail business. At his mother’s community chemist, which she ran alongside her nursing at a local hospital, Nwabufo became acclimatized with healthcare delivery and service. He recalls, for instance, being familiar with what over-the-counter medication might be used for common ailments and even knowing the common chloroquine allergies. The son of a pharmacist myself, I find myself nostalgic as he talks about manning the storefront and watching his mother provide needed medications to her customers. With his siblings, he also garnered business acumen from his father. He describes with fondness some of the endeavours they ran. One of these involved forcefully marketing ice blocks to visitors and neighbours who wanted some relief from the heat, amidst competing mini-franchises. I am struck by how Nwabufo describes the larger-than-life role his mother, a nurse, played as a source of medical aid in their neighbourhood. He says:

There was a little bit of a Messiah complex that I think I saw with my mom in the sense of like how she helped many people. A classmate of mine had a birthday, and I went as a child with my parents. This was in secondary school, and just halfway into the birthday celebration, she started convulsing. Yeah. And till today, they owe it to my mom being there. You know, it was my mum who helped when she started convulsing. I remember she immediately put a spoon in her mouth. The parents were screaming. They didn’t know what to do.

That sense of competency stuck with a young Nwabufo, who would grow up watching people come to their door at night to seek his mother’s help in addressing illnesses and medical emergencies. ‘That saving aspect,’ he reflects, ‘shaped all of us.’ Today, almost all of his siblings work in healthcare.

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This year, Nwabufo will graduate from the Leslie Dan School of Pharmacy at the University of Toronto, having written and completed a dissertation in record time for the faculty. When I ask what is next, his focus seems to be aimed squarely at OneDrug. He dreams of the day when the device might be deployed readily across Nigeria’s community pharmacies. He observes adroitly that some Nigerians have to be begged to go to the hospital, but many are willing to go to their local pharmacy. ‘When you go to the hospital in Nigeria, there’s a lot of bureaucracy, you have to fill out forms,’ he says, ‘there’s also the connotation that the moment you’ve landed in the hospital, your matter must be so serious. But when it comes to, let’s say, the street pharmacy or chemist, or even just a clinic, it’s just you and the pharmacist.’ In other words, there is an unguarded intimacy at the local Nigerian pharmacy. A familiarity and comfort birthed perhaps from the fact that most community pharmacists are known to their communities. They are located in the marketplaces. You can drop by and pick up some paracetamol after blending your pepper. Nwabufo had thought he would, in fact, be a community pharmacist before he fell in love with research at the University of Benin. There is some poetry in the suggested symmetry here.

Nwabufo began in a Nigerian chemist, and it is here he wishes to see his work be used. A nice idea, but that one immediately presents some challenges. Given Nigeria’s endemic issues with power and not as much sophisticated infrastructure for sharing medical information between providers, I wonder if OneDrug’s device would not have to be used again and again each time a provider needs access to genetic information for a prescription for the same patient. ‘We’ve started working on that two years ago,’ he says. One possible solution might be storing the data in a global repository hosted independently, which can be accessed online. I pause. Wouldn’t that make it possible for the data to be hacked and potentially generate privacy issues in the future? For example, in March 2025, Mediclinic, a hospital in South Africa, was hacked by a cyber extortion gang. In 2024, that same country’s National Health Laboratory Service was subject to a vicious ransomware attack. In Toronto, where we both live, there have been multiple stories of breaches at hospitals and healthcare organizations. Even one, in late June, after we speak.

Nwabufo is hopeful, however. ‘There are so many people that are working on this right now. We are also working on it. I do feel that with the level of technological sophistication we have now, we should be able to have a certain level of data security.’ I am unconvinced. He adds: ‘Let’s not be mistaken. Your data in the hospital, it happens every now and then too. It gets hacked too. I mean, you saw what happened to 23andMe, right?’ For Nwabufo the rewards here outweigh the risks.

I am not sure I fully agree, but his argument is compelling. ‘What if that information is needed urgently to decide whether a doctor should prescribe drug A or B to you, but the doctor in Mount Sinai [a notable Toronto hospital] doesn’t have access to that information? They have to treat you right away.’ He has a point. Ready access to lifesaving data is an important benefit that could save more lives.

We finish the interview shortly after, Nwabufo must get back into the thick of things, and he needs to have dinner. We head for a food cart outside his residence. It is a warm day, and the dried petals of the cherry leaf blossoms that line much of the University of Toronto’s downtown campus are a susurrus against the streets. There is much on his mind, but he ambles cheerfully. Nwabufo is hopeful that there is still much good to be discovered. He mentions, as we wait in line, that during the 2020 COVID-19 pandemic, his mom was telling stories of how in Nigeria people only stayed indoors for a few days. ‘Everyone came out, you know, and you know how we are very communal. If it was so pathological, people would have died in towns.’ There is much that is left to be uncovered about our genetic heritage. As we wait in line, I worry about the temptation to frame the necessary work of genetic mapping and exploration as a new frontier for unbounded exploration. Much of racism in science has often relied on eliding metaphors, blurring the yet to be understood into a dark terrain waiting to be tamed and conquered. As though sensing my disquiet, he appends, ‘Some things are not worth knowing, some things are the dark matter of genetics.’ The cart vendor calls his order⎈

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