African genomes are both under- and misrepresented in sequencing studies and genomic databases worldwide. This has huge implications for how equitable precision medicine research is. Our ability to identify specific clinical biomarkers and prescribe drugs to treat a patient based on their genetic makeup is directly dependent on the size and accuracy of genomics data available for African genomes. Here, I’ll dive into this problem and explain how current efforts to address this disparity pose benefits not just for Africans but for genomics research as a whole.
There is an overwhelming abundance of genomes from European-descent and under-representation of African genomes in genomics studies worldwide. Africa makes up about 17% of the World’s population yet African genomes make up only 2% of genomic studies whereas those of European descent make up ~18% of the World’s population and 78% of genomic studies. For European genomes, we have the highest level of granularity at distinguishing European genomes of different and shared ancestry. For example, you can distinguish those of Finnish descent from Norwegian descent despite the shared Scandinavian ancestry. This level of granularity does not exist for African genomes. Additionally, erroneous ideas about genetic “races” are abundant and have collapsed tremendous amounts of diversity that exists between, for example, those of Caribbean, American and African descent into singular categories such as “Black” that are still used in genomics research today. This creates a problem of equity for genomics research and precision medicine. Genomics research strives to highlight the important genetic differences that exist between individuals of different groups yet some groups remain under- and misrepresented. For clarity, here several terms that are often misused in this context:
This problem becomes more apparent when we consider that some ethnic groups have been under persecution for centuries and thus individuals that have descended from these groups have accumulated a unique genetic makeup to reflect that. Some ethnic groups have experienced less mixing of ancestry with other groups and thus have accumulated genetic diseases. These differences can inform genetic counselling and the diagnosis of disease and therapeutic decisions where one drug may better at treating a patient of one ethnicity than another.
The solution is not as simple as “hey, let’s just sequence more African genomes”. Efforts to do so would and have already been shown to result in European and North American Researchers gathering samples with little regard for informed consent and without giving back to the communities they studied. Instead, genomics research itself needs to be become more abundant in Africa to avoid this type of helicopter science and exploitation. Thankfully, efforts to do so are already well underway with initiatives like Human Heredity & Health in Africa (H3Africa) and The Data Science for Health Discovery and Innovation in Africa (DS-I Africa) that aim to develop the necessary expertise among African scientists to establish robust pan-continental genomics research in Africia.
Bringing more genomics research to Africa will result in far more African genomes being sequenced, shared and analyzed. This will also bring about an unseen level of granularity in distinguishing different subgroups of different ancestry within Africa as is seen for European genomes. African genomes possess more genetic diversity than any other continent on Earth. Adding genomes of such tremendous diversity to the body of genomics research will undoubtedly improve global genomics equity and will bring about an unprescedented level of understanding of genetic diversity in humans.
References
https://genomebiology.biomedcentral.com/articles/10.1186/s13059-019-1740-1
https://www.science.org/content/article/africans-begin-take-reins-research-their-own-genomes
https://www.nationalgeographic.com/culture/article/race-ethnicity
https://dsi-africa.org
https://h3africa.org