Perspectives of research ethics committees on the challenges of human genomic research participation in Ethiopia

Abstract

Human Genomic Research (HGR) has contributed to public health advancement by identifying disease susceptibility and resistance. However, HGR is surrounded by several ethical, legal, and societal concerns. This qualitative research study explored the perspectives of REC members in Ethiopia on the ethical challenges of HGR. Two focus group discussions consisting of nine REC members were conducted on November 24, 2022, and March 22, 2023. A thematic analysis was conducted using MAXQDA Analysis Software. The study highlighted several important ELSIs related to HGR, including the inadequacy of HGR literacy at all levels: research participants, researchers, and RECs; unsatisfactory quality of consent; the vulnerability of HGR participants; and the lack of a legal framework to govern the acquisition, storage, use, and sharing of genomic data. Therefore, improving HGR literacy at all levels and introducing a legal framework to govern the protection of research participants of HGR is urgently needed.

Background

Rapid advances are being made in the field of genomics and its clinical applicability for gene-based pre-symptomatic prediction of disease and treatment response. The therapeutic potential of genomics has also sparked an exciting period for biotech product development and research (Guttmacher & Collins, 2002). Genomic research involves the collection and processing of DNA samples, sequencing of the genome, data processing, and long-term storage of data for use in a broad range of future research that is probably unknown at the time of consenting participants (Caulfield et al., 2008).

Notwithstanding its importance, several ethical, legal, and social issues (ELSI) are often overlooked, while conducting human genomic research (HGR). The challenges associated with informed consent, privacy, confidentiality, equitable and inclusive access to outcomes of research, communication of incidental research findings, and ownership of data are of critical importance while conducting HGR (Bonomi et al., 2020; Collins et al., 2021; Roche & Berg, 2015). Therefore, it is imperative to take an active role in researching and addressing ELSI in genomic research. The failure of stakeholders to timely address these concerns can expose research participants to potential harms, including genetic discrimination and stigma. These potential harms can extend to their descendants and predecessors (Botkin, 2020; Burnett-Hartman et al., 2020).

Significant improvements in public awareness and the introduction of meaningful, albeit insufficient safeguard mechanisms against misuses like genetic discrimination were largely derived from the Human Genomic Project’s (HGP) investment in researching the ELSIs in developed countries (Collins et al., 2003). Additionally, significant academic works of literature signal the dangers of neglecting ELSIs, and advocacy for legislative reform to protect research participants has been going on since the completion of HGP. Yet, the ELSI challenges continued to make research participants vulnerable to harm and the need for further ELSI research continues (Hartman et al., 2020; Illes et al., 2017).

There are positive indications that study participants, researchers, and members of the Research Ethics Committee (REC) in some African nations possess sufficient levels of HGR literacy (Tindana et al., 2019). To this end, several capacity-building programs, particularly the Human Heredity and Health in Africa (H3Africa) Consortium, have significantly contributed to the improved understanding of genomics among researchers and African ethics committee members (Tindana et al., 2019). These programs prepared REC members to assess intricate genetic research procedures and empower African scientists to conduct genomic studies by offering training on genetic concepts, data processing, ethical issues, and community participation. Furthermore, public engagement initiatives such as educational workshops, community discussions, and bilingual resources have also contributed to the demythologizing of genetic research by enhancing participants’ comprehension of data privacy, informed consent, and the possible advantages and disadvantages of HGR (Tindana et al., 2019).

Significant progress in terms of research infrastructures has been made in a few African countries, such as South Africa, Nigeria, and Kenya, where Indigenous academics are increasingly in charge of designing and directing genomic initiatives (Kisiangani et al., 2022; Nabukenya et al., 2024; Staunton et al., 2018). To ensure that ethical supervision keeps up with scientific breakthroughs, REC members in these countries frequently get specific training in assessing genomics research. Through culturally appropriate engagement approaches that simplify difficult scientific concepts into understandable language, literacy among research participants especially those participating in long-term biobanking or genetic studies has increased (Staunton et al., 2018). Such improved understanding enables African researchers to engage in international genomic research partnerships, promotes the implementation of a more meaningful consent procedure, and ultimately builds trust in research (Ogunrin et al., 2022). Despite these efforts, the level of literacy on genomic research is not uniform across all countries. Research on genomics in some African populations, who have lower average incomes and literacy rates, raises a number of ELSIs. These problems must be suitably handled and the concerns are best recognized, examined, and resolved when ELSI investigations are incorporated into the planning and execution of genomic research initiatives in Africa (de Vries et al., 2011).

In genome-related research, Research Ethics Committees (RECs) play the same function that they do in other clinical investigations. Since conducting research without the approval of the REC is a violation of institutional and regulatory policies (MOE, 2022; WMA, 2008 ), RECs often provide ethical oversights for submitted research protocols. As a result, HGR is subject to ethical and regulatory oversight by RECs to guarantee that the research complies with international and national ethical guidelines. Their perspective typically revolves around several key principles, which are Respect for Autonomy, Beneficence, Non-maleficence, and Justice (NCPHS, 1979), where more attention is often drawn to respecting research participants’ autonomy by RECs. This entails getting participants’ informed consent, making sure participants are aware of the purpose and ramifications of the study, and granting them the freedom to withdraw at any time without facing any consequences (WMA, 2008 ).

The potential of the study to maximize benefits and reduce harm to people and society is evaluated by RECs. The possibility of medical advances, the dangers of genetic testing and treatments, and the safeguards in place to ensure the well-being of participants are just a few of the variables taken into account (Kerasidou, 2016). They assess the fairness and equity of the risk-benefit distribution. To make sure that the results are applicable to larger demographics and that vulnerable groups are not unjustly included or excluded, they also take into account things like the inclusion of various populations in research (NCPHS, 1979).

In genetic research, RECs further place a high priority on maintaining participant confidentiality and privacy. They evaluate the procedures for gathering, preserving, and interpreting genetic data in order to stop illegal access or disclosure that might result in discrimination or stigma (Ekberg, 2012). Recognizing the need for openness in the research process, RECs push for participants to be informed about the goals, procedures, and possible consequences of the study. Additionally, they guarantee that investigators follow ethical principles and take responsibility for their activities during the research (Chilengi, 2009). While the goal of RECs is to strike a balance between the protection of a research participant’s rights and welfare and the progress of scientific knowledge in human genomics, their perspective is informed by ethical standards and regulatory frameworks (CIOMS, 2016). More than participants, researchers and RECs are in a better position to evaluate the extent of the hazards associated with genetic studies and may take more proactive measures to reduce those risks. Proficiency in data management and security, together with a strong grasp of genetic science and a dedication to ethical behavior, are necessary to satisfy such obligations (Roche, 2009).

Although REC’s oversight of genomic research is theoretically significant, their role could be overstretched to function efficiently to ensure the safeguarding of research participants and hence are not free from critiques (Ferretti et al., 2021; Ng et al., 2015). These criticisms include the management of genomic data which has raised concerns and demands for strict regulation in the continent of Africa in particular, “where a historical unidirectional flow of samples and data out of Africa has created a sense of exploitation and distrust” (Wright et al., 2013, p. 1).

It is further challenging when all stakeholders do not fully comprehend these challenges, due to low literacy and limited access to healthcare, which is even more problematic in low- and middle-income settings (Delgado et al., 2023). While including individuals from minority groups and other communities that are disproportionately impacted by the use or abuse of genetic information is critical in ELSI research, it is necessary to create new channels for communication and cooperation between genomic and clinical researchers and ELSI researchers (Collins et al., 2003). Additionally, little study has been conducted among the Sub-Saharan population to comprehend research participants’ and stakeholders’ viewpoints on the difficulties posed by HGR (Staunton & Moodley, 2013). This study aimed to examine the perspectives of Ethiopian RECs on ethical challenges associated with the conduct of HGR.

Methodology

Study setting:

This descriptive qualitative study was conducted in Addis Ababa, Ethiopia, the capital and most urban setting of the Country. The city hosts several research and higher education institutes, which are also involved in HGR. Members from the Armauer Hansen Research Institute (AHRI)/All Africa Leprosy and Tuberculosis Rehabilitation and Training Center (ALERT) Ethics Review Committee (AAERC) and the National Research Ethics Review Committee (NRERC) were purposively selected for this research. The AAERC has been operating since 1986 and developed its first standard operating procedure in 2007. The AAERC has been responsible for the review of research projects conducted at AHRI, a biomedical research facility, and ALERT, a tertiary Comprehensive Specialized Hospital (Wassie et al., 2015). AAERC has certification for conformance with international ethics guidelines by the Pan-African Bioethics Initiative (PABIN) and the Strategic Initiative for Developing Capacity in Ethical Review (SIDCER) (AHRI, 2020).

On the other hand, the NRERC, which is currently based at the Federal Ministry of Education, acts as a central REC registry hub and is responsible for developing ethical guidelines and reviewing research protocols from all over the country that cannot be reviewed at institutional levels including HGR (MOE, 2022).

At the time of this study, both RECs had a total of eleven and fifteen members for AAERC and NRERC, respectively. Since we were targeting the lived experience of REC members in reviewing genomic research and to get the emic perspective and expert opinion, a total of fifteen REC members were purposefully selected from both AAERC and NRERC, who had experience in reviewing two of the notable HGRs in Ethiopia. The two significant HGR initiatives that have been initiated in Ethiopia since 2018 were the Addis Ababa University’s “Neuropsychiatric Genetics of African Populations-Psychosis Ethiopia Project” (AAU, 2018) and the Armauer Hansen Research Institute’s “An Integrated Approach to Unravelling Susceptibility to Tuberculosis in Africa” (TB-GEN Project) (Aseffa et al., 2018). However, based on availability and COVID-19-related restrictions, only nine of the members participated in the focus group discussions (FGD).

Two FGDs were conducted with the two RECs, who had diverse professional backgrounds. The study was reviewed and approved by the AAERC; and before data collection, oral consent was obtained from all informants. The purpose of using a focus group was to collect information from a pre-selected group of individuals on a certain and pre-defined topic in the form of views (Patton, 2002). By fostering an atmosphere of open communication and equitable involvement for all informants throughout the discussion phase, FGD helped to connect research and policy by offering an understanding of many viewpoints of impending issues (Basnet, 2018).

Data collection and analyses:

Due to the COVID-19 restriction for face-to-face gathering, hybrid discussion formats were employed. While a few discussants attended the discussion in-person, others joined the discussion virtually. A semi-structured FGD guide was used to facilitate the discussions. One of the authors, H.S.D, who is a lawyer by profession facilitated the discussions in English. The data from the FGDs were collected on November 24, 2022, and March 22, 2023. Each discussion took approximately one hour and forty-five minutes. The discussions were audio recorded and transcribed into text using Express Scribe Transcription Software. The transcribed text was compared with the audio version for its accuracy.

Thematic analysis was performed using MAXQDA analysis software and a defined approach as described previously. The researchers were acquainted with the informants’ responses by reading and rereading the discussions and making notes on initial thoughts. Based on the body of existing research and the patterns that emerged from the discussions, a codebook was created to direct the process of gathering data. After deriving the first codes inductively from the data, we looked up parallels in the literature using the code book. We examined the code more closely to see if any new ideas or codes emerged. We then created the themes by classifying the codes. Finally, patterns and themes from key findings were analyzed (Braun & Clarke, 2006).

This research is meant to supplement the observation from our prior study on analyses of research participants’ perspectives participating in HGR (Dembu et al.)(submitted manuscript).

Results

Several themes related to the review and regulation of HGR and the informed consent process for participants emerged and the themes were organized into issues related to research participants, researchers, RECs, and legal frameworks.

Research participants

The FGD informants agreed that health literacy among study participants in Ethiopia is generally low. They acknowledged the challenges of obtaining valid consent for HGR among such participants.

“Let alone illiterate people, even people in the city who are considered to be literate have a skewed conception of research with an aversion to being a guinea pig. The literate people of the community don’t even understand.” (Participant 2 FGD 1- Eng. Par. 34)

On top of this, the discussants felt that the information provided to HGR participants was insufficient, or participants were not given enough time to think about or consult family members regarding their study participation. One of the informants elaborated as follows:

“Participants are not given enough time when consent is requested…. Because, if a participant realized that it is a serious study, they will not be willing to participate.” (Participant 5 FGD 1- Eng. Par. 16)

The FGD informants also highlighted the importance of voluntary participation in addition to the provision of adequate and clear information. Participants in HGR may not know their rights to say no or withdraw from the study even after consenting. Often HGR participants passively comply with the researcher’s request for participation out of fear of negative consequences. The same informant described this as:

“The participant may fear some consequences if they opted out to participate. But we don’t stress these points enough and tell them that it is their right to say ‘no’.” (Participant 5 FGD 1- Eng. Par. 16)

On the other hand, an informant argued that it is difficult for study participants to comprehend genomic research, regardless of the researcher’s effort. The lack of genomic terminologies in the local languages was one factor described by the FGD informant as a barrier to ensuring study participants’ comprehension.

“Answering the first question of whether participants understand or not, I don’t think so; because it [HGR] is complex by nature to fully describe in Amharic; it is not easy to translate either. Searching for the right terms in the local language is a daunting task… I, myself heard the term, ‘Zeremel’ [to mean ‘genes’ in Amharic] for the first time only a few years back. The Amharic terms themselves are novel, making the whole understanding questionable.” (Participant 5 FGD 1- Eng. Par. 10)

The undesirable consequences of HGR participation were another issue raised by the FGD informants. They specifically mentioned stigma and the breach of privacy and confidentiality, which could compromise the safety and well-being of not only the study participants but also their family members.

“Scientists from other countries publish numerous articles as soon as the data is shared, and these publications paint our communities in certain colors.” (Participant 2 FGD 2- Eng. Par. 42)

On the other hand, there was a conflicting idea regarding the traceability of HGR participants. According to one informant, both HGR participants and the researchers think that in the current situation, it is not possible to track individuals in Ethiopia. Hence, it is not necessary to worry much about the breach of privacy and confidentiality as such.

“Information cannot be tracked easily like what we see in the West, you know, credit cards and electronic systems are in their infancy and all. So, the patient doesn’t really care whether you take their gene samples or not. They may think like, how would they track me? And the same can be said of the researchers.” (Participant 4 FGD 1- Eng. Par. 15)

However, another FGD informant responded as follows:

“… Can it be identified? [yes] A signature can be changed. We can use makeup to change certain features of our body, but a genetic sequence is my best identifier, even more accurate than my fingerprint” (Participant 2 FGD 1- Eng. Par. 65)

The FGD informants also noted that owing to undesirable past experiences, international collaborative HGR conducted in low-income settings could trigger a sense of exploitation by study participants and communities. One informant described it as:

“In Africa, there is a lack of capacity to sequence [genetic] data and utilize it… we need to rely on the developed world. There is mistrust given the previous history in this regard. We never know, maybe they will use it for other purposes…” (Participant 3 FGD 1- Eng. Par. 73)

On the other hand, another informant described the need to balance the risks and benefits of HGR and not to put so much emphasis on only the negative consequences.

“We should be careful not to drag all types of genomic research into the pool of risks, because the benefits may outweigh the risks. There are some significant benefits in the areas of medication, treatment, prevention, and the analysis of big data.” (Participant 1 FGD 2- Eng. Par. 52)

Regarding the disclosure of incidental findings in HGR, there were conflicting opinions among the discussants of the focus group. Some FGD informants promoted the disclosure of incidental findings, while others were against it. In general, the FGD informants agreed that the practice, communication, and consequences of incidental findings are not well addressed by RECs.

“… if certain factors are identified from individuals, … giving feedback on the basis of the identified information has another set of ethical issues by itself, of course. Some genomic studies state from the outset that they will not give feedback, while others say they will give it when it is found to have clinical benefits.” (Participant 3 FGD 2- Eng. Par. 48)

“… It has benefits if the researchers disclose… but this does not happen most of the time because the results come in at a much later time. And if and when the results do come in, the data is already de-identified, and we do not see researchers tracing patients and reaching out with the information. If done, this can be seen as a huge benefit. (…). There are some benefits, for sure…” (Participant 3 FGD 1- Eng. Par. 75)

HGR researchers

As in the case of study participants, the FGD informants recognized the knowledge gap among researchers. According to the FGD informants, most researchers had inadequate knowledge regarding the ELSI of HGR, which is particularly true among junior researchers. In addition, lack of experience and inadequate mentorship led junior researchers to knowingly or unknowingly exchange long-term potential harm for short-term gains, such as MSc or PhD training opportunities.

“Such challenges come from junior research–led projects or there is a gap that we observe with postgraduate students… bigger research projects led by senior investigators or doctoral students under the supervision of senior investigators and under the umbrella of bigger projects will take care of this part [ELSI] easily. This is due to the excellent training they get and their supervisors handle such issues appropriately, as they well inform respective participants.” (Participant 2 FGD 1- Eng. Par.8)

On the efficacy of the informed consent process, the FGD informants believed that most researchers tend to focus more on enrolling more study participants than taking time to explain research plans about HGR. The discussants also shared their considerable doubt regarding the appropriateness of the consent process. According to the FGD informants, HGR researchers are often reluctant to provide sufficient information and ensure comprehension.

“The most important thing, from a researcher’s standpoint, is to secure participation and not to make sure they [participants] fully understand the research and consent to it accordingly.” (Participant 5 FGD 1- Eng. Par. 16)

In addition, the FGD informants emphasized that obtaining appropriate consent for participation in a HGR demands additional effort and cost and this sometimes may not be in line with the researchers and their funding plan.

“I think informal procedures can be used to obtain consent, but it requires lots of effort, time, and financial resources from the researchers’ perspective. I think there will be concerns about delays. I think they will hesitate to spend longer time on these processes even though they know how important they are” (Participant 4 FGD 2- Eng. Par. 28)

Other FGD informants also mentioned that the lack of good planning by researchers compromises the quality of consent for HGR. They reiterate that poor research planning is the reason for rushing at the time of research implementation with limited attention to the quality of consent. They further indicated that the quality of consent for HGR could be improved if HGR researchers plan early on, have adequate time for participant recruitment, and apply alternative approaches that could help study participants understand the study better.

“Say, you want to use audiovisual tools for the consent information, and the researcher will not be willing to go to all that trouble. There will not be anyone who will embrace the changes with open arms…and say ‘Why would I go to all the trouble of producing a video when I can simply read a written text, get it signed, and be done with it?’” (Participant 1 FGD 1- Eng. Par. 40)

“Other countries use drama for these purposes… in very informal settings, especially in rural settings. We could use tea and coffee ceremonies in our context… I have heard that some do this even though I don’t have the details. I think awareness can be raised if we use this method, like focus group discussions.” (Participant 4 FGD 2- Eng. Par. 18)

“Many people know their family trees, like who fathered who. So, using it would be wise to explain genetics in simple terms, to explain like ‘we are studying heredity.’” (Participant 2 FGD 1- Eng. Par. 24)

The other issue discussed by the FGD informants was the interpretation of HGR findings in a multi-ethnic setting. They emphasized that the implications of HGR interpretations targeted at certain ethnic groups could be far-reaching, beyond ethics, and could affect the political and social elements of society.

“… We should not say such and such ethnic group has such and such. We cannot generalize and say ‘x’ group has such. It is especially more sensitive when it comes to our country. The right scientific approach in expressing the conclusions from such a research endeavor is to say that such and such data was obtained from participants of such ethnic group and not that such ethnic group has such…” (Participant 5 FGD 1- Eng. Par. 94)

“We should be cautious not to take conclusions too far. We have to make sure that we have sufficient evidence to proceed to conclusions that have ethnic implications. But the question is, do we have, from the outset, evidence for taking ethnicity into the equation? We should be wary of dragging unnecessary issues into the research because we are liable for the information we are producing and disseminating. We have to be careful not to stretch into such unwanted directions.” (Participant 2 FGD 1- Eng. Par. 95)

RECs and legal frameworks

This study showed that all informants emphasized the need for ethical review and regulation of HGR. Discussants acknowledged the limitations of RECs and the Ethiopian legal framework in undertaking a rigorous HGR review and regulation, respectively. According to the FGD informants, currently, ethical issues related to genomic data (storage, access, use, sharing, and regulations) are given inadequate attention by most RECs in Ethiopia. Research ethics committees in Ethiopia rely on the national research ethics review guideline in their day-to-day activities. Though they claim that the guidelines lack many important details with regard to HGR, their review decisions mainly arise from these guidelines. The ethics committees try to fill some of the gaps in the national guidelines by referring to international guidelines and other REC experiences.

“…the national guideline…that’s what we rely on most of the time and when we are faced with issues that are not addressed in it, we refer to international tools like CIOMS… We have the liberty of referring to other guidelines” (Participant 3 FGD 2-Eng. Par. 56)

“Most issues in genomic research are new to our country and may not be well-addressed in the national guideline or other regulations. We, the RECs, take precautionary measures by referring to the experience scandals of other countries. We refer to the strong SOPs of other RECs… especially about bio-bank, data and sample sharing.” (Participant 3 FGD 2- Eng. Par. 57)

They also reflected their concerns regarding the benefit sharing of commercialized genomic data, custodianship of data shared with a third party, and control over its future use, which is currently not well understood.

“The other is something being practiced in developed countries. Some cell lines are now on the market but they belong to individuals and families and families claim that ‘It is my identity’, ‘It is also my genetic sequence’….” (Participant 4 FGD 1- Eng. Par. 65)

“… We all remember the ‘HeLa Cell’ story. So, benefits and the beneficiary could be a point of concern.” (Participant 2 FGD 2- Eng. Par. 54)

The lack of a legal framework to regulate health research in general and HGR in particular was also mentioned as a major gap. The FGD informants emphasized the lack of legal codes on informed consent, rights of research participants, genomic data storage, access, use, sharing, commercialization, and benefit sharing as major concerns in reviewing this type of research.

“I think the samples we share are abused. It would be better to build capacity locally and do the research here from start to finish.” (Participant 1 FGD 1- Eng. Par. 69)

“When we share data, the receiving institute makes the agreement airtight because they involve lawyers on their end. But we are near-sighted with only the immediate outcomes in view… we just simply sign the agreements, but we really don’t know what we are committing to. Of course, there is a talk of open science, open data sharing, etc, but we have to take a closer look.” (Participant 1 FGD 1- Eng. Par. 67).

The discussants emphasized these gaps in the legal framework, and the ethics committees’ reviews and deliberations are often shallow. They also indicated that this was also true when a legal professional was present in their review meeting.

“…We lack the support of legal professionals … but we help each other out by making use of our experience.” (Participant 4 FGD 2- Eng. Par. 60)

“Adding a bioethicist or a lawyer is a luxury.” (Participant 1 FGD 1- Eng. Par. 111)

“We had a lawyer in our committee. He makes contributions from the legal perspective. But as you know, our legal framework is not that explicit other than providing general protections” (Participant 4 FGD 1- Eng. Par. 105)

The discussants further suggested a few recommendations for the effective implementation of HGR. The importance of legislation to regulate certain aspects of genomic research is addressed.

“What I propose as a solution is the development of guidelines, especially for data sharing. There are gaps at both global and national levels concerning data sharing and bio-banking guidelines that need to be revised and clarified. (…) The ‘atmosphere’ in clinical areas serves as a check for how ethically you conduct things in the absence of laws. There is some reluctance in non-clinical settings which needs to be governed by law. I don’t think there are such laws but the research community needs to be aware of them if there are any… although ignorance of the law is no excuse (laughter).” (Participant 2 FGD 1- Eng. Par. 115)

The relevance of funders’ commitment to the quality of the informed consent in genomics research is associated with providing funds for community engagement and training of the entire research team on ELSIs of HGR.

“We just don’t gather people together in a hall to teach and dismiss them. It [consent] is a process that has its own cost implications. It would be great if funders recognized this properly. Research institutes should notify investigators [about the quality of content] when they request proposals and each plan. It is coming to effect now but because we are in transition, there may be tendencies on the side of investigators to take things lightly. So, I think awareness is necessary on the sides of investigators, funders, and research institutes.” (Participant 3 FGD 1- Eng. Par. 36)

The involvement of policymakers, research institutes, and the media in the management and regulation of informed consent is proposed as a recommendation for a better implementation of HGR.

“It definitely needs commitment. This is not only from the researcher or the REC but higher level. Research institutions have to take the lead. They should think about (community engagement) issues when a researcher sets out to conduct genetic research. (…). They could also lease airtime from broadcasters to continuously create awareness.” (Participant 2 FGD 1- Eng. Par. 30) “We may even fail in our attempts to engage the community because of the absence of concerted background work, be it with regional health bureaus and the Ministry of Health. If that is done, the research endeavor and the consent process will become easy because members of the community will have a certain degree of awareness and may be convinced that they need to contribute.” (Participant 2 FGD 1- Eng. Par. 32)

The RECs proposed that planning the consenting phase from the start will give both the researchers and the participants a better opportunity to explain and understand the research.

“Most of us have a planning problem (chuckle). So, this requires a detailed action plan with good execution. If you take recruitment, for example, you have to know… it could be one or two persons per day giving you an idea of the timeline, be it 5 months or 3 months, etc. But if you fail to plan well, your funding period may come to an end and you be overstretched (chuckle) which will, in turn, force you to compromise on the quality of the consenting process and your research.” (Participant 3 FGD 1- Eng. Par. 26)

The advanced involvement of RECs was also recommended. The review process of genomic research should involve advanced scrutiny and follow-up.

“I share the points that were raised. As was said earlier, measures need to be taken starting from the REC itself. One is that the REC should be critical when reviewing genetic research. The other thing I would suggest is follow-up. I have experience in other research endeavors where there is a strong review of the practice of consent process in the field, which may be a good strategy.” (Participant 1 FGD 1- English, Par. 22)

The RECs suggested that all team members of the study especially those who will have close interaction with the research participants should be well-trained in the consenting process of genomic research.

“As mentioned earlier, it is possible to train the research team well, not only for the purpose of completing one research project but also to have an enhanced understanding of the ethical issues involved. It is somehow [attitudinal] but it can be addressed through training.” (Participant 4 FGD 1- Eng. Par. 28)

It was endorsed to involve genomic-related professionals in the consenting process of HGR.

“One thing I didn’t mention earlier is the use of trained genetic counselors. This may take time but it is practicable if it is given the proper attention. I think they are practicable.” (Participant 2 FGD 1- Eng. Par. 28)

The REC members suggested that researchers should consider alternative consenting mechanisms, different from the traditional written informed consent approach, to ensure comprehension.

“For example, participants take the consent [forms] home where they discuss them with members of their families. As you all know, genetic information involves not only the individual participants but also other family members as well. So, they discuss it with other family members, too. It is also translated into local languages and made available in an audio format in trying to facilitate the participants’ understanding. It is not likely that the participants understand what they are getting into where similar efforts are not being made here.” (Participant 3 FGD 1- Eng. Par. 12)

“I would suggest [discarding] the formal/written consent form and opting for audiovisual aids that easily be understood by potential participants. (…). I am convinced that audiovisual aids like videos are better than the written consent forms.” (Participant 5 FGD 1- Eng. Par. 24)

“Different methods like videos, pamphlets, Q&A and the like are used in other research types to enhance the participant’s understanding during the informed consent process.” (Participant 1 FGD 2- Eng. Par. 34)

According to the RECs, community engagement is an important intervention that takes the ‘Lion’s share’ from among other ways of intervention.

“Community engagement is a recommended strategy but I have [reservations] when we come to the practice in our country. For example, we made some attempts in one of the genetic studies. We were able to mostly engage health professionals working at health centers in the area. There are real challenges in reaching the community. There is a lot that needs to be done in framing… in that regard. There are different levels of community engagements and we have to know which level we are targeting. Is it during the stages of protocol development, implementation, or dissemination? Community engagement has to be done rigorously.” (Participant 1 FGD 1- Eng. Par. 22)

They further added that the dual role of a physician and an investigator/researcher confuses research participants and/or can be grounds for undue influence.

“What we stress in genomic research is ‘who would be consenting the research participants?’ ‘who is the person requesting consent from participants? especially in relation to collecting samples from persons that came to the health facility for a clinical service?’ We prefer for the clinical service team and the data collecting team to be segregated. We always recommend that to investigators and we ask who is going to be requesting consent. In our culture, it is highly unlikely that patients would say no to the physician who treated them. There is ‘yilugnta’ (sensitivity to the opinion of others) and the patient may think that the physician may be upset when the former comes in for their next appointment. So, the patient requesting consent shall be someone other than the treating medical practitioner assigned for this specific task”. (Participant 5 FGD 1- Eng. Par. 20)

Discussion

The ethical, legal and social issues (ELSI) in research involving RECs in large HGR in Africa show the importance of trust, the prerequisite for legitimate consent, the necessity of involving community consent in sharing samples and data; and the need for a strong and open governance system (de Vries et al., 2015). Research shows that developing a more comprehensive regulatory framework, and continuously building the capacity of RECs and national research councils in Africa is important for HGR in the continent. (Yakubu et al., 2018).

Sensitivities and concerns expressed by communities concerning their past experiences as well as local cultural beliefs and customs constitute one of the main ethical obstacles to genomic research in Africa. Successful genomic research in Africa would need careful consideration of the risks of harm and stigmatization, challenges of community participation, broad consent, and the consequences of sharing DNA samples and genetic data (Ramsay et al., 2014). RECs in Africa also highlighted a wide range of ELSIs in genomic research, including the challenge of proper acknowledgment of local scientists’ contributions. Methods to evaluate these ethical dilemmas, while conducting genetic research in Africa, are often overlooked and require further follow-up (Ramsay et al., 2014).

This qualitative study was aimed at exploring the perspectives of REC members regarding HGR and closely related issues. Accordingly, the study highlighted several important ethical and/or legal issues related to HGR including the inadequacy of genomic literacy at all levels, unsatisfactory quality of consent, vulnerability of HGR participants, and the lack of a legal framework to govern the acquisition, storage, use, and sharing of genomic data.

This study also indicates the inadequate levels of HGR literacy among study participants, researchers, and even REC members in Ethiopia. This makes comprehending information sheets designed for HGR participants difficult, further precluding participants to consent in HGR with a limited understanding of what they are committing to. This implies the need to evaluate and comprehend the level of genetic literacy in the population, particularly as genomic and personalized medicine gains traction. Evaluating genetic research’s influence on genetic literacy is equally essential, as it spurs innovation in this field and includes a large portion of the public (Little et al., 2022). With genetic and genomic information advancing quickly, it will need new collaborations between the government, the healthcare and education systems, community advocacy groups, research participants, researchers, and the media to prepare people to make informed decisions about their personal and family health. The best strategy to address each audience’s unique needs and preferences should be ascertained through a community-based research participatory approach (Hurle et al., 2013). Additional ways to increase genomic literacy are through the creation or advancement of guidelines, standards, and national programs for the integration of genetic education into formal education; seminars for healthcare professionals; and online information repositories for the general public, patients, and research participants (Zimani et al., 2021).

In addition, the result of this study shows that researchers seem to consider the ethical challenge associated with HGR to be the same as any other study. Researchers with limited experience also take their good intentions as a justification to pursue any kind of study, including HGR, without adequate preparation for its ethical implications. This observation is similar to what is seen in most of Sub-Saharan Africa, where the degree to which local biomedical researchers are equipped with the understanding of the local and international ethics guidelines related to HGR is limited (Ogunrin et al., 2018). This could also be compounded by the limited capacity of RECs to give good-quality reviews and guidance on genomic research. This is similar to the limitation of other RECs in Africa that lack the necessary knowledge and experience to examine genetics and genomics studies in general. The guidelines RECs relay also require revision to proactively address the growing complexity of genomic research, guarantee to raise awareness and support REC members’ ongoing review capacity development (Teka et al., 2021). The language barrier in translating terms used in genomics research to local languages is also noted among the RECs, as some words could be used interchangeably, yet connoting different meanings. Some of these include ‘Gene’ (literally translated as ‘ze-re’ to imply both ‘heredity’ and ‘ethnicity’, which made it difficult to adequately communicate HGR and ensure comprehension.

The findings of this study also showed that according to some of the Ethiopian RECs, HGR participants are not adequately informed and hence are vulnerable to adverse or unforeseen consequences to research participants and bearing potential harms of HGR; such as potential breaches of confidentiality or privacy. Additionally, the absence of a legal framework to govern the acquisition, storage, use, and sharing of genomic data is probably the most important gap identified. This is in agreement with the recent scoping review study, that reported the lack of essential policies for rigorous ethical review and conduct of HGR in most African settings (Ali et al., 2021). As some of the findings discussed above were directly related to the absence of a legal framework, addressing this gap could alleviate these challenges.

Avoiding dual roles as a researcher and physician of research participants, if possible; adequate planning of the consenting phase of HGR and securing funding for comprehensive community engagement were some of the practical recommendations forwarded by the RECs. This is in line with international ethics guidelines and recommendations. Several precautionary steps were further made: disclosing the role of treating clinicians, while engaged in research projects, (CIOMS, 2016) proper planning of research activities (Davidson, 2021) and proper timing and using clear approaches to ensuring quality research and seeking genuine informed consent (Grady et al., 2017).

Given the challenges involved and the fact that genomic research is still in its infancy in the Ethiopian research landscape, community engagement demands particular attention. Involving the community at the initial stage of research development offers valuable input and takes considerable attention to the cultural sensitivities of the research. Since communities share genes, the research’s findings also apply to other members of the community, indicating the critical need for their active and genuine participation (Nankya et al., 2024). Developing particular criteria, organizing large-scale community engagement platforms, building long-lasting partnerships with communities, and assigning genetic counselors to provide specialized help for managing the psychological ramifications of genetic research are useful in HGR (Nankya et al., 2024). Research institutions, investigators, RECs, and funders will all need to make commitments to advance the science and techniques of community engagement in HGR (Tindana et al., 2017).

Overall, human genomic research literacy is perceived as low among the stakeholders and the process of ethical review and consent in HGR seem not satisfactory, and research participants are not protected by an appropriate legal framework. This makes HGR participants more vulnerable to unforeseen risks and therefore efforts to improve HGR literacy at all levels are necessary, particularly among researchers and REC members. In addition, a commitment of all stakeholders and framing of legal framework to regulate HGR participants protection is urgently needed.

In order to overcome the problem of poor HGR literacy, researchers should take responsibility to create a more inclusive, understandable, and easily accessible informed consent procedures. This entails eschewing conventional, text-heavy consent forms in favor of other strategies that simplify complicated genetic ideas in languages that are more culturally appropriate, such as interactive digital tools, movies, and visual aids (Rego et al., 2020). Engaging the community is also crucial; researchers can work with local leaders, interpreters, and health educators to provide educational sessions that build trust and promote candid discussion about the objectives, risks, and advantages of the study. Furthermore, ‘dynamic consent’ models may be used by researchers, enabling participants to modify their choices as their knowledge advances. In addition to ensuring that ethical requirements are fulfilled, researchers enable communities to make better informed, voluntary decisions regarding their participation in HGR studies by customizing permission procedures to participants’ literacy levels and cultural backgrounds (Prinsen, 2024; Teare et al., 2021).

Best Practices

Our research provides many crucial recommendations, that are directly forwarded from Ethiopian RECs in order to improve the consenting process for HGR participants. A few of the proposals were the sufficient regulation of informed consent in genetic research through public health-related legislation, securing sufficient funding for community engagement, and educating the entire research team on ELSIs of HGR. Training the research team on the consenting procedure for genetic research, particularly for those who will be interacting closely with research participants should be underlined. Alternatively involving experts in the field of genomics, such as genetic counselors could significantly assist the consenting procedure. They further recommended the integrated participation of policymakers, research institutes, and the media in the administration and regulation of informed consent and genomic data. It was noted that the advanced engagement of RECs in the comprehensive examination and follow-up of genetic research is necessary in the Ethiopian context.

Meticulous planning of the consenting process in advance will allow participants and researchers to have a better chance of explaining and comprehending the study. Researchers should take into account additional consenting techniques beyond the conventional written informed consent strategy. Researchers must also be aware that participants in the study may become confused or subject to undue influence as a result of their dual roles as physicians and researchers. Hence, they must try their best to avoid dual roles. Finally, the RECs state that, among other forms of intervention, community involvement is a crucial strategy that deserves special attention in HGR.

Research Agenda

Investigating the perspectives of Ethiopian RECs was the main agenda of our focus group discussion. However, we did not address the understanding of other stakeholders in genetic research, particularly the researchers in the area. Hence, we would find it intriguing and extremely important to our larger understanding of the ELSIs of HGR to do more study that questions researchers about their understanding of these issues.

Educational Implications

The implication of our finding shows that the informed consent of genomic research in Ethiopia requires significant regulatory and practice change to show true respect to the individual autonomy of the research participants. The insufficiency of the current legislation to adequately regulate informed consent and genomic data in health research needs the intervention of policymakers. Whereas the consenting and data-sharing practice from the researchers’ side and the review process of REC need to incorporate the recommendation of this research and other similar findings.

Biographies

Herani Sahlu Dembu

Herani Sahlu Dembu is a lawyer, leading the legal department of the Armauer Hansen Research. Among other tasks, she conducts legal and ethical assessments in health research and provides professional advice to the institutional REC. Most of her recent work experience is geared toward identifying and researching the challenges of research participants in health research and providing data for informed decision-making in developing health research policy and legislation for the protection of the vulnerable population in the health sector.

Herani Sahlu Dembu (HSD) contributed to the inception, research design, data collection, analyses, and write-up.

Hailemichael Getachew

Hailemichael Getachew is a public health professional with over 20 years of experience in clinical care, teaching, project coordination, ethical review, and research. He has an interest in bioethics and expanding REC capacity in Ethiopia, He served in several terms as a member and secretary of the AHRI/ALERT institutional ethics committee.

Hailemichael Getachew (HG), contributed to the design of the research concept, methodology, manuscript review and overall supervision.

Polly J. Price

Polly J. Price, Asa Griggs Candler Professor of Law, is also a Professor of Global Health in the Rollins School of Public Health at Emory University. A public health law scholar as well as a legal historian and citizenship and immigration law expert, she has published, lectured, and taught widely about immigration and citizenship, public health law and regulatory policy, federalism, property rights, and the judiciary.

Polly J. Price (PJP) contributed to the design of the research concept, methodology, manuscript review and overall supervision.

Jessica Sales

By training, Dr. Sales is a developmental psychologist with expertise in cognitive and emotional development and post-doctoral training in behavioral science. She is the Co-Director of the Prevention and Implementation Sciences Core of the Emory Center for AIDS Research (CFAR) and is the Director of the Emory CFAR Implementation Science Hub. She also currently serves as the Co-Director of the RSPH Maternal and Child Health Certificate Program. Much of Dr. Sales’ current research focuses on dissemination and implementation science in the context of HIV prevention for women and girls in the Southern US.

Jessica Sales (JS) contributed to the design of the research concept, methodology, manuscript review and overall supervision.

Liya Wassie

Dr. Liya Wassie has advanced training in immunology and extensive experience conducting collaborative clinical and translational research studies in Ethiopia. Her research interests are focused on TB immunology, leading key initiatives at Armauer Hansen Research Insititute (AHRI), and contributing to national TB policies to enhance high-quality TB research.

She has an interest in bioethics and expanding REC capacity in Ethiopia. She previously served as a member of the AHRI/ALERT institutional ethics committee and currently serves as the Vice-Chair of the Ethiopian National Ethics Review Committee.

Liya Wassie (LW) contributed to the design of the research concept, methodology, manuscript review and overall supervision.

Availability of data and materials

The data that support the findings of this study are available from Armauer Hansen Research Institute’s local server but restrictions apply to the availability of these data, which were used under license for the current study, and so are not publicly available. Data are however available from the authors upon reasonable request and with permission of Armauer Hansen Research Institute.