Ethics central to genetics research in Africa

The potential of genomics research to boost healthcare in Africa could be a game-changer for improving medicine and health outcomes on the continent in future. But it must be done with ethics top of mind.

Professor Ambroise Wonkam, Deputy Dean of Research in the Faculty of Health Sciences and director of the University of Cape Town’s (UCT) Genetic Medicine of African Populations (GeneMAP) research centre, together with fellow UCT researcher, Associate Professor Jantina de Vries, are doing pioneering work in the field.

Their recent paper, published in Nature Genetics, raises the need for Africa-specific guidelines in the way research results are released to individual participants in African countries.

“These are genetic findings, uncovered in the course of a research project, that tell us something about the future health of the research participant, for instance, if they are more likely than most people to develop a particular illness,” explains de Vries.

“Populations of African ancestry have a history of evolution spanning nearly 300 000 years. This has resulted in many more variations in African genomes than in any other population in the world and this variation has not yet been properly investigated.”

“In our work, we are hoping to develop greater clarity about what the policy for African research should be: whether, when and how genomics research results should be fed back to people.”

Genomics in an African context

Genomics involves the study of all of a person’s genes, including how those genes interact with each other and the person’s environment. Being able to generate genomic information will help African researchers to develop more appropriate diagnostic and prediction tools, and treatments that are in tune with the genetic make-up of African and South African populations.

The continent’s fascinating and rich cultural and genetic diversity are a major reason why African-specific guidelines are needed.

“Populations of African ancestry have a history of evolution spanning nearly 300 000 years. This has resulted in many more variations in African genomes than in any other population in the world and this variation has not yet been properly investigated,” says Wonkam.

Over the years, environmental pressure on African genomes has had a widespread impact on African genomic diversity. It has increased prevalence of some variants, such as those associated with sickle cell disease, the most common genetic disease which kills many thousands of newborn babies in Africa every year and causes kidney failure, strokes and heart attacks.

The other important reason is the socio-economic context of Africa. Many areas are poverty-stricken. This greatly affects access to healthcare.

“Healthcare systems are under-resourced in many African research settings. This means that even if participants are told about a particular finding, they may not be able to act on it,” says de Vries.

Internationally there’s been focus on the concept of ‘actionability’ with the expectation that researchers should only return results to participants that they can do something about.

“In our setting, it is likely that there may be results which participants can do nothing about. The question is if that impacts on whether people would like to know, and whether they should know,” says de Vries.

More genetics training

For Wonkam, genomics research has been an abiding passion during his working life. Over the years he has focused on understanding human genetics for the betterment of the public health care sector. A love and commitment to the African continent has propelled his work and inspired him to dig deeper.

“What inspires me to do this research is passion: passion for knowledge and Africa, by Africa, with Africa, for Africa and the world,” says Wonkam.

He is keen to spark more interest among young people in African countries.  

Wonkam and de Vries say there is a shortage of trained medical genetics professionals who can assist in unraveling the significance of genetic results and translate them in an understandable and meaningful way to research participants. They suggest two ways to try and get over this hurdle.

One is to increase the number of medical geneticists and genetic counsellors who are trained annually and build these kinds of opportunities into genomic research projects. The other is to explore more innovative ways of ensuring that other healthcare staff, including nurses and community healthcare workers, are equipped to interpret genetic knowledge.

“What inspires me to do this research is passion: passion for knowledge and Africa, by Africa, with Africa, for Africa and the world.”

The H3Africa Consortium is carving a path forward and has started offering basic training in genetic counselling to nurses across the continent as one solution.

Over the next few years, some of the challenges will be systematically addressed through the Individual Findings in Genetics Research in Africa, an H3Africa Collaborative Ethical, Legal and Social Issues Centre of which de Vries and Wonkam are principal investigators. The centre will pool African and international experts in medical genetics and human genomics to develop priority lists of potentially reportable mutations in Africa. Among other goals, it will also train healthcare professionals who will be equipped to interpret and return genetic findings to people.  

H3Africa has generated a wealth of sequencing data that could ultimately help to improve the health outcomes of people in Africa. With ongoing developments in the field it’s encouraging that ethics are coming to the fore.

“I love genomics research and the potential it holds for improving our understanding of the biology of disease,” says de Vries. “But I can also see that there are many really important questions that need to be considered so that the conduct of genomics research is ethical.”
 

• Wonkam A & de Vries J (2019) Returning incidental findings in African genomics research. Nature Genetics doi:10.1038/s41588-019-0542-4