For his outstanding contribution to advancing the representation of Africans in genomics and pioneering genetic risk prediction of complex diseases in Africa, Dr. Segun Fatumo, leader of the Unit’s Non-Communicable Diseases Genomics research group was awarded the inaugural UKRI/MRC Early Career Impact Award. The award recognized his leadership and dedication to transforming the research system of the future and improving the wider research environment. As part of the award, Dr Segun Fatumo received a prize of £20,000 to widen the impact of his research work.

We spoke to Dr. Fatumo about his vision for genomics research in Africa, which is currently limited despite its relevance for the development of appropriate healthcare solutions across the continent.

What inspired you to join genetic research?

As a child, I watched my younger brother suffer helplessly from frequent, unbearable pain caused by sickle cell disease. There are millions of people in Africa like my brother, with sickle cell disease. Advances in genomics could help us find final solutions to diseases like sickle cell diseases, type 2 diabetes, kidney diseases, and even cancer. I am driven by the impact I could make using genetic information.

What is your scientific research focus?

My primary research interest is in identifying genetic variants that contribute to the risk of common complex diseases, to inform genomic medicine and drug discovery. I am now particularly focused on genetic risk score prediction – an approach that helps us compute the total number of genetic variants in a person, to assess their heritable risk of developing a particular disease such as kidney disease, type 2 diabetes, or cancer. This is a fantastic approach that could help us identify high-risk sub-groups of people, long before they even develop the disease.

What do you consider some of your most central achievements as a pioneer in Afro-focused genetic risk prediction of complex diseases in Africa?

Through the NCD programme at the Unit, I have the opportunity to build genomic capacity in Africa – training postdoctoral fellows and several Ph.D. students and trainees. We have an excellent team of researchers working on various ambitious genetic risk-scoring projects which are already bearing fruit, particularly in developing genetic risk predictions in African populations using genetic information of over 1.4 million African ancestry individuals. This includes quantifying the risk of diabetes and lipid abnormalities, and uncovering significant differences from European populations.

This work, which has been published in some of the most prestigious journals, such as Nature Medicine and Diabetes care is enabling more accurate disease prediction and will hopefully lead to appropriate and early intervention. There is huge potential for this work to be utilized more widely in the scientific community as well as for clinical translation. As such, we as a group are pleased for the platform to strengthen continental capacity in inclusive genomic research and promote the attainment of improved health in Africa.

What were the key messages of public concern that ran through your award-winning submission ‘Pioneering genetic risk prediction of complex diseases in Africa’?

First, we are still years away from clinical utility of genetic risk score (GRS) in Africa. The GRS is a number that summarizes the estimated effect of many genetic variants on an individual's genetic predisposition for a given trait.

Genetic risk scoring is relatively new, emerging from recent advances in genomics research. It therefore needs to be well-regulated, as a global effort. I also believe that genetic risk prediction, like all other risk predictors, should be used appropriately and responsibly. So, I do not envisage any major public concern.So, I do not envisage any major public concern.

How has your affiliation to the Unit and LSHTM enabled your scientific achievements?

I’d like to thank MRC/UVRI and LSHTM Uganda Research Unit and LSHTM for providing an environment that enabled me to carry out my work. Currently, genomic studies are not possible in many parts of Africa because of infrastructural limitations. However, the Unit offers the best resources for human genomic studies, including the General Population Cohort (GPC) and Uganda Medical Informatic Centre (UMIC). Additionally, I’d like to thank MRC’s core funding, Wellcome Trust for funding my research, and the Unit for nominating me for this award. Without my affiliation to these premier institutions, this may not have been possible. Thank you all for shining a light on my path.

What next for your genetics research?

The benefits of genomics are just starting to emerge. Currently, accessing gene therapy costs about $2 million per person, putting it out of reach for many who need it the most in Africa and other parts of the world. We are working toward cost-effective genetic tools that can save the lives of millions. I look forward to a time when genomic research studies will be implemented in every clinic in Uganda, Nigeria, and other parts of Africa. This is not a matter of if, but when!

What does this award mean for your future?

I am still overwhelmed with emotions. I started my research group in 2020 at the peak of the first wave of the COVID-19 pandemic and just a few months after the death of my twin daughter Daniella. I never imagined that a day would come when I’d be awarded the MRC Impact Trophy for making an outstanding impact in medical research standing in front of the world’s leading scientists.

This prize is testament to the fact that our hard work and innovation can receive global recognition whether we are seated in a corner room in Entebbe, London, or New York. I am grateful to all my Postdoc, Ph.D. students, graduate students, research partners, and colleagues at the MRC/UVRI and LSHTM Uganda Research Unit for their immense contributions and support over the years. I recognize that without them, this award wouldn’t have been possible.

Africans still make up a tiny portion of genomics data, with only 1.1% of African genomic studies. This current lack of genomic diversity has led to major scientific opportunities being missed. I am determined to do my best to change the narrative. My team and I have utilized the limited genomic datasets in Africa to develop African-specific genetic risk scoring for Type 2 diabetes, lipid traits, and now kidney disease. We want to expand on this work for the direct benefit of the common man in Africa.

Related Link: MRC awards inaugural Impact Prizes – UKRI