Health
Genetics & Genomics Research Dissemination; Makerere Bioethicists Emphasize the Importance of Community Engagement
By Joseph Odoi
As Genetics research continues growing in Uganda, Bioethicists from Makerere University College of Health Sciences have stressed the importance of community engagement, genetic counselling and Public sensitization when conducting Genetics research in Uganda.
These recommendations were made at a research dissemination workshop held on the 8th December 2022 at Makerere University College of Health Sciences.
While presenting findings of the ELSI-UG project titled “Ethical and social issues in informed consentprocesses in African genomic research”, the Project Principal Investigator -Associate Professor Mwaka Erisa Sabakaki from College of Health Sciences, Makerere University in a special way welcomed participants to the dissemination. He noted that involving communities in genetics and genomics research is very important when it comes to enhancing the understanding of genetics and genomic information by the general public.
‘’There has been an exponential increase in genetics and genomic research in the last two decades.
However, this field of research is complex and is poorly understood by various research stakeholders. One way of enhancing understanding of genetics and genomic information by the general public is through community engagement. It is therefore crucial that communities are meaningfully involved in research processes right from conception. Community engagement provides a two-way communication channel through which researchers gain better understanding of community priorities, preferences, traditions, practices, and cultural sensitivities.’’ explained Prof. Mwaka.
He equally highlighted the need for translation of scientific language into local languages, genetic counsellors and consent in Genetics research adding that community engagement is crucial in building equitable research collaborations and trust between researchers and research communities.
Genetic and Genomics
According to National Institute of General Medical Sciences, Genetics is the scientific study of genes and how certain qualities, conditions or traits are passed from parents to their off springs. Genomics on the other hand involves using information about genes to: identify genetic disorders including future diseases so that doctors tailor treatment for individuals.
In same spirit, Dr. Moses Ochan, the Vice Chairperson of the Makerere University Research and Ethics Committee stressed the importance of sensitization of communities and researchers before any study is undertaken. According to him, sensitization enables communities understand the advantages and disadvantages of participating in a study thus making informed decisions.
In this United States National Institutes of Health funded study that sought to explore the knowledge,perceptions and experiences of stakeholders; researchers, bioethicists, REC members, research participants and caregivers/guardians on the informed consent process, and the ethical, legal and social implication of genomic research, 243 protocols were analyzed involving both local and international researchers
Findings
Return of individual genetic results to research participants
- Of 122 parents/caregivers of adolescents in the study, 77.1 % expressed the desire to receive all results of their children’s genetic/genomic results.
- 71.3 % of parents/caregivers agreed that children should be able to take part in research testing for genetic conditions that begin during childhood, even if there is no treatment that can alter the course of the condition
- 85.3 % of parents/ caregivers expressed the desire to know genetic research results about children to see if they are more likely to get a disease in the future.
- 71.3 % of parents/ caregivers agreed that Children should be able to take part in research testing for genetic conditions for which there is a treatment that begins during childhood that can alter the course of the condition
- 62.3 % of parents/ caregivers agreed that children should be able to take part in research testing for genetic conditions that start in adulthood and have no treatment that can alter the course
- 89.4 % of parents/ caregivers agreed that children should be able to take part in research testing for genetic conditions that will arise in their adult years, only if there is treatment or prevention that should begin in childhood
On the most important issues parents should consider in deciding whether or not to get genetic research results, 81.2% cited distress knowing that there are potential problems for other family members. Additionally, 45.0 % of parents and caregivers noted that receiving their child’s genetic results might worry their family; and 27.8% worried about stigma and discrimination
To address this, 69.2 % of parents and care givers said genetic counselling should be offered prior to a sample being taken to do genetic research
On perceptions on returning individual results of genomic research, parents and caregivers indicated that It is the researchers’ moral obligation to return clinically significant results; as such, genetic results should be communicated to them by the study doctor. Most parents preferred being informed first before involving the children; and some mothers expressed the desire to exclude the child’s father from these discussions until they (mothers) have understood the implications of the results in question.
On the role of children in making decision makings on whether to regarding return of genetic results or not, there was no consensus on the ideal age for disclosure of results. Some parents and caregivers pointed out that involvement of children in these discussions should depend on child’s character, level of understanding and ability to cope with the implications..
On handling findings that have familial implications, there were mixed feelings about involving other family members. Parents, especially mothers expressed fear of attribution. They thus suggested that the biological parents of the child should be the first ones to receive these results and then decide whether to involve other family members.
On the perceived challenges to return of results, parents and caregivers cited protracted delays in communicating genetics/genomics results; difficulty in tracing the child’s family, especially when the parents die and they are being cared for by other caregivers; risks of knowing unpleasant findings and paternity disputes.
Parents and caregivers offered several suggestions for the safe return of results of paediatric genomic research and these included the need to organize peer support and sensitization activities for adolescents participating in genetic studies; feedback of results should be done by a multidisciplinary team comprising of clinicians, genetic counsellors, the child and parents. All concurred that other family members should be involved at a later stage.
Informed consent and sharing of biological samples in collaborative genomic research and biobanking
On consent to future use of samples, 88.8% of the 187 researchers that participated in the study indicated that there is need to provide donors with the option to consent. 62% indicated that informed consent forms should include multiple options regarding the types and conditions of future research for which the samples may be used (tiered consent). 6.2% said that participants should only consent for the current study, and any future studies on the stored samples would require re-consent. However, the majority of researchers felt that the need to reconsent places an unacceptable burden on the researchers (62%) and is prohibitively costly (59.4%)
On informed consent experiences and practices, it was found that most principal investigators (12/15) were not well conversant with the informed consent procedures of their respective studies because they delegate this to study coordinators and nurses/nurse counsellors. Most nurses/nurse counsellors lacked basic knowledge and understanding of genetics, including the risks of genetic research.
On Information disclosure, researchers noted that genetic research is complex and oftentimes research participants do not adequately understand the information disclosed them during the consenting process. They thus recommended the use of an iterative approach that encourages consultation with family and/or people research participants trust, use of simple language, use of visual aids and other media, and objective assessment of comprehension. The also reiterated the need for translating informed consent documents into local languages and the use of peer educators. Researchers emphasized the role of community engagement in community education and sensitization, ensuring that researchers respect local cultural values and beliefs, and dispelling of superstitions and misinformation.
- The perceived challenges to the informed consent process included, the poor quality and inaccuracy of translations of ICF into local languages, inadequate understanding of informed consent, limited understanding of genetics by communities and some research team members, lack of professional genetic counselling services in Uganda, and mistrust of foreign collaborators.
On Export of human biological materials (HBM), researchers had a positive attitude towards the export of samples and expressed a desire for collaborative partnerships in genetics/genomic research and bio banking that are characterized by mutual respect and equity. However, they raised several concerns:
- They seem not to be well conversant with the guidance provided by the national ethics guidelines on bio banking and
- They all concurred that material transfer agreements (MTA) are key in the transfer of human biological materials across the national borders. However, they surmised that these MTA are unfair and tend to favour international Collaborators. They felt that local researchers and research institutions are not empowered enough to bargain favorably during MTA negotiations. They also indicated that the national ethics guidelines are vague on role of RECs in MTA and data sharing agreement development. Furthermore, they indicated that Uganda lacks appropriate enabling ethical and legal frameworks to protect the interests of local scientists and research institutions
- On sharing of the benefits of research, the researchers felt the ground was not leveled and there was neither equity nor fairness in sharing of GBR benefits in international collaborative research. They attributed this to the lack of scientific integrity and questionable research practices by collaborating researchers, lack of effective communication between collaborating partners, denial of access to shared data and samples by Northern collaborators, and felt that the oversight function of UNCST during MTA implementation is limited.
To address the issues at hand around genetics and genomics research, they made the following recommendations;
Recommendations to enhance comprehension of informed consent for genetic/genomic research and biobanking
- Escalating community engagement: to sensitize the general public and educate them on genetics research and its implications
- Iterative approach to informed consent where participants are given ample time to read/be read to consent information, ask questions, make consultations with family and trusted persons
- Encouraging the use of simple language and various media during information disclosure.
- There is need for harmonization of translations. A dictionary of translated key scientific and medical terms/concepts in research and clinical care in local languages should be developed
- Develop specific national guidelines for genetic and genomic research in Uganda.
- Research ethics committees should be trained in the basics of genetic research in order to ensure that they appreciate the ELSI and are competent enough to review genetic research.
- The use of checklists for assessing understanding of consent should become mandatory and should also be included in the national ethics guidelines.
- All stakeholders should read and understand the available national and international guidelines, policies, and regulations pertaining to genetics/genomic research and bio banking before negotiating Material transfer agreements.
- Research ethics committees should be empowered to review and monitor the execution of MTAs during research implementation, and this should be clearly stipulated in the national ethics guidelines.
- The national research regulators and individual institutions should join forces and devise mechanisms for tracking and monitoring the use of exported HBM and data.
- Encouraging meaningful involvement of communities in Material transfer agreements negotiations, particularly regarding sharing of the benefits of research.
- There should be capacity building for clinical genetics, particularly clinical geneticists and professional genetic counsellors
- Community engagement activities should be scaled up to prepare communities for the return of genetic research results as and when they are available
More about the Project
This project explored the knowledge, perceptions and experiences of stakeholders on the informed consent process, and the ethical, legal and social implication of genomic research. The goal of the project was to contribute to a better understanding of the ethical legal and societal issues associated with genomic research in low resource settings. The study employed both quantitative and qualitative methods of data collection and analysis. Prospective evaluation was done using questionnaire surveys; focus group discussions; in-depth interviews; direct observation of informed consent processes; and assessment of the quality of informed consent
This study was funded by United States National Institutes of Health through The Human Heredity and
Health in Africa (H3Africa) initiative which is spearheading bio banking and genomics research in Africa for Africa.
The study was conducted between November 2018 to 2022 by a team of researchers led by Associate Prof. Erisa Mwaka as Principal Investigator.
Research team:
- Associate Prof. Erisa Mwaka
- Dr. Ian Munabi
- Assoc. Prof. Joseph Ochieng
- Dr. Janet Nakigudde
- Prof. Nelson Sewankambo
Health
Professor Nakimuli awarded at FIGO Congress for outstanding contribution to Women and Child Health
Kampala, Uganda – Makerere University School of Public Health (MakSPH) and Estonia’s Tallinn University of Technology (TalTech) have launched a two-year collaborative project to transform health informatics education and practice in Uganda, positioning the country as a regional leader in digital health. Unveiled earlier this month at MakSPH and supported by the Estonian Centre for International Development (ESTDEV), the initiative aims to build a skilled digital health workforce and accelerate Uganda’s transition to a data-driven health system, while aligning the country’s digital agenda with global best practices through partnership.
This strategic collaboration builds on the success of MakSPH’s Master of Health Informatics (MHI) programme. The MHI is one of the eight master’s degrees hosted at the School and was first introduced in 2016, jointly delivered with Makerere University College of Computing and Information Sciences (Mak-CoCIS). The two-year graduate training equips students with skills in health information systems design, data analytics, and digital health leadership through a hybrid model of face-to-face, online, and self-paced learning. So far, since its inception, nearly 50 graduates have completed the programme, many of whom have now gone on to lead national and regional health data initiatives. In August last month, the School received 26 new entrants for the MHI 2025/2026 cohort, reflecting its rising demand.
Now, the new project, launched on September 9, 2025, links TalTech’s MSc in Digital Health, one of Europe’s pioneering programmes introduced in 2009, with MakSPH’s Master of Health Informatics to strengthen curricula, mentor faculty, and give students exposure to global best practices. The goal is to create a skilled workforce capable of leading Uganda’s digital health transformation. The initiative is co-led by Prof. Peeter Ross, Professor of e-Health at TalTech, and Prof. Nazarius M. Tumwesigye, Professor of Epidemiology and Biostatistics at MakSPH. They are joined by Doris Kaljuste, Programme Director of the MSc in Digital Health, and Mr. Michael Anywar, Doctoral Student at TalTech and the initiator of the collaboration, as well as Ms. Irene Wanyana, MHI Programme Coordinator and PhD Candidate at Karolinska Institute, Sweden, and Mr. Chris A. Balwanaki, the Coordinator for the project at MakSPH.
Prof. Ross, a leading global authority on e-health and head of the Digital Health Research Unit at Tallinn University of Technology, commenting on the project and the link between health and technology, stressed that while health itself is not technology, the intelligent integration of digital tools is indispensable for making healthcare more efficient, affordable, and accessible. He underscored that this collaboration marks a key step in that direction, with capacity development and academic exchange key to sustainable digital transformation.
“Capacity building is critical. In Estonia, when the nationwide health information system was being launched, about a third of the budget went into training healthcare professionals. This required training trainers first, underscoring the strategic role of academia. Estonia has a master’s programme in digital health, while Makerere University offers a blended Master of Health Informatics. Together, these programmes can expand training across Uganda and beyond,” Prof. Ross explained, adding that the collaboration also gives Estonia the chance to test digital health solutions in a large, English-speaking population, while Uganda benefits from Estonia’s decades of experience and avoids common pitfalls.
Estonia, a Northern European country currently with about 1.37 million people and covering a total area of 45,339 km², is seen as one of Europe’s leaders in digital innovation. About 99 per cent of its public services are reportedly delivered online, and its health information system records nearly every citizen’s medical history from birth to death. The X-Road platform in the country enables secure, encrypted data exchange, while e-prescriptions cover almost all prescriptions nationwide. Meanwhile, the Digilugu.ee patient portal allows citizens to access their health records, track activity logs, and even generate certificates, a system widely trusted by users. The Estonian team revealed that the integrated digital health ecosystem shows how technology, governance, and policy work together to provide efficient, patient-centred care.
Conversely, Uganda’s growing digital ecosystem makes the timing of the collaboration strategic. The country currently has more than 43 million mobile subscriptions, over 26 million internet users, and more than 33 million mobile money accounts, creating fertile ground for scaling digital health solutions. With this, strengthening health informatics will build a skilled workforce needed to design, implement, and manage these solutions effectively.
The MakSPH Project Co-lead, Prof. Tumwesigye, hailed the partnership as a turning point for the MHI programme, noting that modules such as Health Analytics are being upgraded to give students hands-on experience in developing tools to digitise public and private health systems. He said Estonia’s model, where digital innovations are widely adopted and lead to measurable improvements, offers a blueprint Uganda can adapt to move beyond paper-based systems, improve data quality, and train graduates to design solutions that strengthen health outcomes.
“Uganda is still behind in digital health use. We rely heavily on paper-based systems, experience long delays in transmitting data from primary health facilities to the national level, and face issues with data quality, including missing or inaccurate figures. Strengthening our programme will help address these challenges and produce graduates who can design solutions that lead to better health outcomes. Learning from TalTech University and Estonia’s digital health success will help us put Uganda on a better footing for the future,” Prof. Tumwesigye observed, noting that Estonia’s model stands out for ensuring digital innovations are widely adopted and deliver measurable improvements in health system performance.
The Programme Coordinator, Ms. Irene Wanyana, noted that since its launch in 2016, the Health Informatics training at Makerere University has made a strong impact, earning a reputation as one of the leading graduate programmes of its kind in the region. She observed that faculty members and students have been instrumental in designing, developing, and supporting national health information systems critical to Uganda’s health sector. These include UgandaEMR, an advanced electronic medical record system now deployed in more than 1,700 health facilities; the Weekly Stock Status System, which enables real-time tracking of essential medical commodities; and the Early Infant Diagnosis Laboratory Information Management System (LIMS), which improves the management of HIV testing data for infants.
Still, the programme has contributed to the development of PrEP and DREAMS/OVC tracking systems, supporting HIV prevention and care for vulnerable populations such as adolescent girls, young women, and children. The graduate training has also strengthened national HIV surveillance through the Centralised Blood Screening (CBS) dashboard, advanced the Uganda Health Information Exchange Platform to improve interoperability, and facilitated the migration of critical health data systems into the Ministry of Health’s national data centres, continuing to ensure that health information is secure, reliable, and accessible nationwide.
Ms. Wanyana is optimistic that with the new collaboration with TalTech University in Estonia, MakSPH’s Health Informatics programme is poised to deliver even greater innovations and impact to transform Uganda’s digital health system. In September 2024, four of our MHI students, Mr. Edwin Ayebare, Mr. Brian Twesigye, Mr. Enock Mwesigwa, and Mr. Iving Mumbere, won a global Award of Distinction at the Open Group India Awards for Innovation & Excellence in New Delhi. Competing against 22 university teams worldwide, they were recognised for their innovative application of enterprise architecture to address real-world health system challenges, attesting to Makerere University’s global competitiveness.
Speaking at the launch event, H.E. Girisch M. Nair, Honorary Consul of Estonia to Uganda, emphasised that Estonia’s experience offers Uganda a practical blueprint for building interoperable systems, standardising health data, and strengthening national health information infrastructure. “This collaboration is a platform for us to aspire more. Imagine a patient in Bundibugyo with a secure digital ID linked to their electronic health record. Wherever they go, authorised health workers can access their records, prescriptions are issued electronically, and medicines are dispensed at registered pharmacies. This generates rich, actionable data that helps plan better, reduce waste, and improve health outcomes.”
There is evidence of the Estonian Consul’s remarks. A new study conducted in 2023 by a team from Makerere University School of Public Health, led by Assoc. Prof. Peter Waiswa, published this September in BMJ Global Health, confirmed that supporting Ugandan districts to adopt digital payments significantly improved the efficiency of mass vaccination campaigns in the country, reducing delays, cutting administrative bottlenecks, and enhancing transparency. The findings from this and similar multi-country studies by the same team show that with targeted support, cashless systems are both feasible and practical for strengthening public health.
For Mr. Jamiru Mpiima, an alumnus of MakSPH and graduate of the Health Informatics programme, these developments underscore the critical need for a skilled workforce to design, implement, and manage digital health systems effectively. Speaking on behalf of Mr. Paul Mbaka, Head of the Division of Health Information at Uganda’s Ministry of Health, Mr. Mpiima shared the Ministry’s progress in digitising health information systems, from electronic medical records to the electronic community health information system, and the lessons learned along the way. He urged stronger collaboration between MakSPH and the Ministry, particularly in training future health informatics professionals and building institutional capacity to manage change in Uganda’s digital health sector transformation.
During the launch, MakSPH Dean, Prof. Rhoda Wanyenze, commended the remarkable speed of the Estonia–Makerere collaboration, noting that within a year, early conversations had already matured into a funded joint project. She emphasised that this milestone marks not just the start of a promising partnership, but also a unique opportunity to embed it more firmly within Uganda’s health system. Prof. Wanyenze called on all partners, the Ministry of Health, Makerere University, and the Estonian counterparts, to pursue a strategic tripartite arrangement, stressing that such collaboration could greatly strengthen Uganda’s digital health systems, accelerate technological innovation, and deliver measurable improvements in national health outcomes.
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