Several African countries are building national genome projects to correct a long-standing imbalance in the genetic evidence used to diagnose and treat disease, a paper says.
Only about 0.15% of participants in genome-wide association studies – research that looks for links between genetic differences and disease – are from Africa, even though the continent carries the greatest human genetic diversity in the world.
The paper’s lead author is a molecular geneticist at Muhimbili University of Health and Allied Sciences in Tanzania, writing in a report from The Conversation.
His co-authors bring expertise in genetics, genomics and population health from Egypt, Tunisia, Senegal, Kenya and South Africa.
A genome is the complete set of DNA carried by a person. When most of the evidence about how genetic differences affect health comes from populations outside Africa, findings can be harder to interpret for African patients.
The paper cites one case in which genetic changes previously reported as causing an inherited heart condition in people of African ancestry turned out to be harmless – errors that became easier to detect once more genetic information from people of African ancestry was available.
Tunisia, Egypt and Senegal have national initiatives, while government-led projects in Tanzania, Kenya and South Africa are at earlier stages. Other countries have genomic studies that could provide a foundation for broader national programmes.
The projects are taking different routes. Tunisia plans to study both people without known disease and patients with clinical conditions, an approach that could help distinguish harmless genetic differences from those relevant to a patient’s illness.
Egypt aims to study a much larger number of people and investigate common and rare diseases; the paper identifies its challenge as turning that scale into useful knowledge and healthcare capacity.
Senegal aims to include people from 31 ethnolinguistic groups across all 14 regions, addressing the risk that a national dataset overlooks parts of the population.
The paper does not assess implementation in Tanzania, Kenya and South Africa.
As those efforts develop, the authors write, the same questions will matter: who is represented, how the data are governed, whether local expertise is strengthened and how findings could eventually improve healthcare.
Initiatives such as Human Heredity and Health in Africa (H3Africa) have already helped develop laboratories, research skills and collaborations across the continent.
The authors argue national projects should build on that experience but be designed around each country’s health priorities and resources, because no single model will suit every country.
The aim is not to offer every person a genetic test. The value, the paper argues, lies in building knowledge that is currently missing and developing the people and systems needed to use it.
For a family affected by an inherited disease, better local information may make it easier to determine whether a genetic change is linked to disease. Research may also help doctors understand why some medicines work differently between people.
Those benefits are not automatic. Sequencing thousands of genomes will achieve little if countries cannot analyse the data, interpret the findings or translate useful discoveries into healthcare.
National genome projects need laboratories, computing systems, trained scientists and health professionals who can interpret genomic information. They also need clear rules on consent, privacy, storage and who can use genetic data.
The authors suggest governments and project leaders begin by agreeing on the health questions a project should answer, involving communities in its design and setting rules for consent and data access before collecting samples.
Budgets, they write, should cover training, secure data systems and the people needed to interpret results, as well as sequencing itself.
People contributing genetic information are handing over something deeply personal, the paper notes. They should know why their data are being collected, how they will be protected, who may use them and how the knowledge generated may benefit their communities.
International collaboration will remain important, but countries should also have meaningful control over genomic data generated from their populations.
Many African health systems are already dealing with infectious diseases, shortages of health workers and rising numbers of people with cancer and cardiovascular disease. The authors argue genomics should not be presented as competing with those priorities.
Countries do not all need very large genome projects, in their view. They can start at a scale they can sustain, focus on health problems that matter locally and expand as capacity grows.
Regional cooperation can help by sharing sequencing, data analysis and training capacity. Long-term funding matters too: projects that rely only on short research grants may generate useful data but struggle to maintain staff and equipment once funding ends.
The easiest way to describe a national genome project is by the number of people whose complete DNA it reads. The authors argue that should not be the main measure of success.
For the public, the more important question is what changes because the project exists – whether it improves the interpretation of genetic tests, helps families affected by inherited disease get clearer answers, generates evidence that can help improve treatment for African patients, and builds local expertise and services that remain after the sequencing is finished.
National genome projects will not transform healthcare overnight, the paper concludes. Their value will depend on whether the data are translated into better knowledge, stronger health systems and services that people can actually use.
African genomic data are valuable to global science, but the countries and communities contributing those data should also benefit.
The lead author is a co-founder and Secretary General of the Tanzania Human Genetics Organisation.
Source: The Conversation
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