Makerere University researchers have embarked on developing ethical guidelines that will be used when conducting Genetic and Genomic Research. 

These will among others address issues to do with informed consent, privacy, community engagement, genetic counselling and understanding the implications. 

The move to draft these guidelines is premised on the fact that research around Genetics and Genomics has increased, the most recent being on COVID-19. 

Dr.Joseph Ochieng, Associate Professor, Makerere University College of Health Sciences (right) disseminating the findings of the Genetic and Genomics Research in Uganda at Mulago on Wednesday July 20 2022. Left is Dr.Mark Kaddu Mukasa, Acting Principal of the college.

But also, new findings from Makerere University has revealed that such research has potential to reveal an individual’s family, or community’s genetic information that may be sensitive with resultant social and psychological harms. 

The study of hereditary and the variation of inherited characteristics (Genetic) and the study of an organism’s whole DNA set and its interaction with the environment (Genomics) is an area that has attracted a significant amount of research over the past 20 years. 

In order to address these challenges, Makerere University college of health sciences under took a four-year study that begun in 2018, to examine the ethical, legal and social issues associated with genetics and genomics research as well as what constitutes appropriate practice.  

This data, disseminated to key stakeholders including the Uganda National Council of Science and Technology, is what is expected to inform guideline development for ethical conduct and regulation of such research. The research was funded by the National Institute of Health. 

The findings 

Assoc. Prof Joseph Ochieng, also the principal investigator said enforceable policies for ethical conduct and review of Genetic and Genomic Research (GGR) are either deficient or missing in many African countries, save for South Africa.  

“Researchers admitted to not using any specific guidelines to do their work. Whereas they also acknowledged that it is good to do genetic counselling, they said they improvise in that area seeing as there is no qualified genetic counsellor in the country at the moment,” he said. 

Ochieng was speaking during a dissemination meeting held at the Makerere University College of Health Sciences in Mulago on Wednesday (July 20) . The research is titled, Genetics Related Ethical Considerations and Guidelines. 

Ochieng described genetic counselling as a communication process, which aims to help individuals, couples and families understand and adapt to the medical, psychological, familial and reproductive implications of the genetic contribution to specific health conditions. 

This process integrates interpretation of family and medical histories to assess the chance of disease occurrence or recurrence and education about the natural history of the condition, inheritance pattern, testing, management, prevention, support resources and research. 

Genetic counselling also leads to informed choices in view of risk assessment, family goals, ethical and religious values and encourages the best possible adjustment to the disorder in an affected family member and/or to the risk of recurrence of that disorder. 

“These are individuals who have knowledge in genetics and counselling and literally explain the details of how a test can come out, what they mean and how they can affect you and how to handle your situation,” Ochieng said.  

Disseminating results  

The other aspect that came out of the study was that should the absence of guidelines warrant dissemination of results? Whereas 30percent said they would report back, others said reporting could attract legal implications. This is something that the guidelines seek to address.  

Another issue that the study highlighted was that should discoveries that are unearthed in between a research study be made known to the individual. 

“For instance, if one is carrying out research on sickle cells and somewhere in between you need to test both parents to see whether the child got the sickle cells from the parent and then you find that actually the mother has a trait but the father does not have a trait. This has significant social implications because the father is technically not the biological parent of this child,” Ochieng said. 

Hellen Opolot, the assistant executive secretary at the Uganda National Council of Science and Technology said the evidence out of the research will help them expedite the formation of policy for national development. 

She said there has been a 21percent annual increase in research in Uganda that calls for periodic examinations from stakeholders. 

“We are also developing guidelines for different health sector aspects like genre therapy which will help with review of clinical trials to optimise the turn round time for clinical trials,” Opolot said, adding that such processes empower and improving the research management process.  

Prof Moses Joloba, the dean school of biomedical sciences said whereas Africa has 14percent of the world population, its contribution to genetics and genomics sequences is less than one percent yet Africa serves as a template. 

Dr.Mark Kaddu Mukasa, Acting Principal college of health sciences,Makerere University (foreground) deliberating on the results of the findings of the Genetic and Genomics Research in Uganda at Mulago

Dr Mark Kaddu, the acting dean school of medicine who represented the principal college of health sciences said GGR raises challenges of participant protection which need to be further explored. 

“For instance does a subject have a right to withdraw from a study any time after the sample has been provided. Who is responsible for returning results? There are issues related to data analysis, risks of data sharing among investigators, commercialisation patenting benefit sharing that need to be addressed,” Kaddu said. 

Speaking briefly on benefit sharing, Prof Erisa Mwaka, the head of department, anatomy said individuals who participates in research are mostly compensated for the time lost and transport spent.  

“However discussions on commercially viable products should be made to ensure communities benefit out of a given research. This can either be through infrastructural development, improving their water and sanitation, human resource development among others,” Mwaka said.