This month scientists successfully used gene editing for treating sickle cell disease, a hereditary disease common among people of African ancestry. This was done by identifying and cutting out a gene that instructs the production of the defective sickle-shaped cells in people with the disease.
It would not have been possible without the sequencing of the entire human genome that makes up human DNA, particularly that of people of Black African ancestry.
This approach is called precision medicine and involves the use of genetic information of a person or group for the development of disease diagnosis or treatment for that person or group. It is producing remarkable health outcomes in other regions, but Africa is lagging.
The genetic makeup of Africans is the most diverse in the world as such holds great potential for scientific breakthroughs in the diagnosis and treatment of many diseases globally. However, only 2% of the genetic material available for pharmaceutical research is from people of African ancestry.
In an effort to increase the proportion of African genetic information, the African Centre of Excellence for Genomics of Infectious Diseases (ACEGID), a World Bank-funded research organization, and startup 54Gene—both based in Nigeria—have installed equipment described as one of the most efficient genome sequencing platforms in the world. The Illumina NovaSeq 6000 Sequencing System is expected to give them the ability to produce the entire human genome sequence consisting of about 3 billion “letters.”
“The few African human genomic data we already have were produced out of Africa for Africans. Now we can produce African data in Africa for Africans,” says Christian Happi, ACEGID director. “We will be able to see the different genetic characteristics of an individual that are responsible for certain traits like diseases.”
Like many other labs on the continent, ACEGID, a top genomic research center in Africa before now uses a sequencing system of less capacity as such does not do human genome sequencing because of the large data size.
The system they have before must have to run consistently for about two weeks to carry out the sequencing of a whole human genome, says Happi. With the new system, the same genome material can be sequenced in six to eight hours and reduces the cost of sequencing to about $700 (about 42% decrease). However, combined with the cost of acquiring the system, which is about $1 million, the human genome sequencing is still beyond what most research laboratories in Africa can afford.
ACEGID, a non-profit organization, aims to produce genomic data of humans, as well as animals, plants, and disease, and study the data for possible applications in medicine and biotechnology. But 54Gene, which is the first African private biobank, aims to gather genetic samples of Africans and work with researchers and pharmaceutical companies to develop drugs and treatments for diseases.
54Gene, founded by Abasi Ene-Obong, a geneticist, is currently collecting genetic material and data of patients with ailments such as cancer, diabetes, and sickle cell anemia in Nigerian hospitals. The startup has raised nearly $20 million since last year and has launched a program to sequence the genome of 100,000 Nigerians that may cost as much as $70 million to $100 million for sequencing alone. It is betting on the huge potential of selling these data to pharmaceutical companies or partnering with one to develop a treatment.
“Both models complement each other,” says Gerald Mboowa, a Bioinformatics Researcher at the Makerere University in Uganda. “These organizations have a responsibility to comply with the obligations of the Nagoya Protocol, which provides a transparent legal framework for the effective access to genetic resources, as well as fair and equitable sharing of benefits arising from their utilization.”
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