Demographic characteristics
Table 1 shows that the sixteen (16) respondents were those who had either conducted or regulated human research for at least the last two years previously some with responsibilities in genomics research, patient care, policy development, ethics regulation and community engagement in Botswana. They responded to our in-depth interviews between July 2019 and June 2020. Their ages ranged between 40 and 65 years and majorities were male. All respondents were highly trained professionals with specializations in various biomedical and social behavioral fields. They also held various positions and performed other research related responsibilities. All 16 respondents had basic training in genetics which gave them good background knowledge of genetics and heredity. Unfortunately, only a few had specialized training in genomics at graduate or postgraduate level and had participated in genomics research.
Overall, all 16 respondents supported feedback of actionable individual genetic results. They were of the view that this practice was an important outcome that could benefit participants. However, our results revealed a number of contextual issues that we categorized as themes under either opportunities or challenges. Our Category of Opportunities included: Botswana’s democratic governance and the free universal health care system. Other opportunities noted were the national commitment to science, research and innovation; and the mandatory provision of applicable standard of care. Our Category of Challenges included: the process and cost of feeding back results validated in an accredited laboratory; linkage to care; and the non-availability of experts in genomics research.
Our respondents were not so much concerned about whether or not participants could afford prevention and/ or follow-up treatment for validated conditions discovered from genomics research. This was attributed to the comparatively strong Health Care system which provides Universal Health Care supported by Botswana’s democratic governance and economic management which ensure that the values and principles of stewardship, transparency, participation, fairness, accountability and following the rule of law are adhered to. With this type of system, most respondents felt that despite the high costs of validation of results, follow-up treatment, and referrals, these would likely, partly or fully, be borne by government or private medical insurance.
Therefore, overall all respondents felt that feedback of actionable individual genetic results in Botswana is possible because of the universal health care system as captured by this sample response below:
IDI 01 “Our health system is a free kind of health system, or health for all in Botswana whereby everyone has got access. … Where something can be done the fact that our health system is– like this. We always pride ourselves, saying that health care is available to everyone; the facilities are within 5 kilometre radius for every settlement. You see, and you know that the referral is also there. The health care system is there with a wide coverage”.
Some respondents however cautioned that although health services are free for all Botswana nationals, there are some inequity contextual challenges like low levels of education, low genomic literacy and poverty among the majority of research participants that can impact on actionability. These factors can affect comprehension of information fedback to participants, access to necessary genomic information as well as the cost of follow-up and care since the majority of participants may not be able to afford out-of-pocket services and lack of medical insurances. One respondent however noted that there could be solutions to these factors to enable return of actionable results. For example, empowering participants and communities through simple education that can be provided at the regular public meetings or community councils of Botswana villages referred to as “kgotla” meetings presided over by the village chief or headman. Here community issues are discussed to articulate people’s needs through dialogue. Village Development Committees (VDCs) are also available where such education can be provided mainly to promote transparency and trust as well as minimize stigma attached to some genetic diseases. This was expressed by one respondent as follows:
P04: “Like majority of people I take care of at the hospital are poor people as they do not have private insurance! Many of them understand when/if you take time to explain things. They require a kind of education, so they can appreciate and understand what you are saying to them”.
Some respondents felt that due to the high costs of treatment of most genomic conditions, results for such conditions should not be fedback because government might not afford. However, some were of the opinion that even such results should be fed back based on the existing cultural concept of “Botho” a Botswana concept of reciprocity and solidarity. Like one respondent commented:
IDI 03: “I think it’s a very important point with regard to “nothing can be done” and it causes anxiety but let the participant decide. Again where is the line drawn l? If nothing can be done, is that across board? What if I’ve got a cousin say for example in Germany where this technique is available and I can get myself there? Where is the line drawn? We have to be careful because then we’re bringing in inequality of healthcare. Why should a person X not be told because we think they might not be able to act on the results? This might be a burden to them that still brings in that inequality, Humm– particularly — in terms of monetary management; — the money aspect also creates inequality—. So my fear is once we start doing that. We do run the risk of creating a very stratified society”.
In support of the above concept, one respondent said:
IDI 01: “For some of the interventions it’s not like really if you tell that old woman that you have cancer, who thinks that her kids can’t pay? Who says? It is interesting in this country right now the things that you normally see. Some people can even bring donors on board to help so and so, to go and do this! I have seen some where we have pledged for people that you don’t even know!”
Another opportunity noted for Botswana’s return of individual results is the national commitment to science, research and innovation. This was seen by some respondents as a way of increasing the quantity and volume of genomic data generated about research participants in Botswana populations. A deeper understanding of this data could arguably benefit research participants when translated into health care interventions. This could translate into a strong argument to afford research participants the opportunity to receive at least some of their individual findings. Due to this need, some of the responses seemed to suggest that there is a need for Botswana to prioritize genomic research since there is a lot that needs to be understood regarding genetic disease and if the results are shared with the participants, it would inform innovations as well as personal value to participants of understanding about their health conditions. Research investigators should take advantage of the infrastructure that government has developed at academic and research institutions which conduct genomic research. Emphasizing this point, one respondent said that:
IDI 09: “For Botswana there are a lot of opportunities, huge opportunities! They are things that we don’t understand in our nation why they are different from other nations and the hypothesis is that they are driven by host genetics.”
Applicable standard of care
The current regulations about the standard of care for research participants in Botswana are yet another opportunity for the return of individual genetic results. For example, the Botswana SOPs and Clinical Trials guidelines expect research investigators and sponsors to provide good standard of care or even better to participants during and after the research as a requirement for demonstrating equal respect for the dignity of research participants especially for multi-site studies. The regulations further elaborate that it is unacceptable for developed-country participants to be offered better standards of care than are offered to Batswana participants in a similar study. In this regard, some respondents felt that this could be a key determinant for and basis for promotion of the return of individual findings as described below:
IDI 10: “Well, I don’t know if it is very different from what’s happening already. So, that in itself is not completely new and relates back to what we’re feeding back and what is actionable within that setting. I don’t think the government should change the way that they are rationing health care or deciding what they can and can’t afford just based on what we can now test for.
Challenges
Availability of required resources
Although Botswana has a number of accredited laboratories, some of them might not be able to do genomic validation tests or if they can it is comparatively expensive. Therefore, most respondents expressed concern about the cost of validation of research results especially that of running and maintaining the equipment, acquiring consumables and maintaining expert staff. In addition, the cost of sending samples abroad like the US or, more conveniently, South Africa is also high. Furthermore, lack of genetic health professionals such as medical geneticists and genetic counsellors was considered a problem. For our interviewees, these factors meant that outright promises of returning findings were a challenge as all these bring in a need for financial resources at government and individual level, as well as encourage collaborations to enable access to medical genetic services. Like one respondent said:
IDI 05: “I mean this confirmation has to be done in an accredited laboratory, which will be expensive. I see these as some of the challenges that confirmations are sometimes done outside the country or even the initial tests. Like here in Botswana, a lot of researchers say we have to send the samples somewhere because we don’t have the capacity and even some of the tests are still being developed. How would you advise government to draft their policy in such a way that we can allow where possible if agreed to collaboration where it [validation] can be done outside. You know that processing a material transfer here is a big issue”.
In the absence of accredited laboratories in the country that can perform genetic sequencing, one of the respondents supported and recommended return of findings which are from standard research methods or sensitive methods that have been used over time by laboratories in the country. However, the respondent emphasized that if the research tools used to test samples are still under validation, results from such tools would need further assessment so should not be fedback to participants. This suggestion was expressed as follows:
IDI 09: “For me, I think that if for example you are using processes that we call standard methods or standard diagnostic methods or sensitive methods that have been proven over time. I believe such results should be given back to participants. We should be on the benefit side of caution to say that we found a signal that needs to be validated. And then either the signal should be validated or at least there is some information that could be used for further improvement of patient care [—-]. Hmm because then people can say Okay, based on this finding we think that it might reach actionable threshold, even though the methodology is not validated. I think the science is improving. Hmm and they are new tools coming up including genomic screening with tools that are still being researched. I think we should make the results available at minimum to the policymakers with further consultation with an Ethics body, medical ethics body, or maybe the participant”.
Lack of experts in genomics research especially medical geneticists and genetic counsellors was also identified as a big obstacle to the return of individual findings in Botswana. However, considering the small population of Botswana, some respondents thought probably the best solution to this challenge would be to take advantage of the regional and international collaborative partnerships Botswana has established over the years, to attract these experts to build and or strengthen capacity in these areas. One of the respondents supported this suggestion by saying that:
P 04: Yeah! So the issue of costs is becoming global. For some of the things that involve cost, it is becoming evident that there is no need duplicating. Some of these Technologies can be shared in a cost-effective way. So you find that within in southern Africa, for example, maybe you want in anatomic energies, microscopy or something specialized that costs millions and millions. It could be stationed in Botswana, but everyone around the region can access it”.
Research regulatory oversight
Respondents noted the lack of guidelines specifically for genomic research and expert representation of genomic research experts on IRBs. These shortfalls are critical in guiding the return of individual genetic results. One respondent expressed this concern and proposed a solution as follows:
IDI 09: “We don’t have systems, governance systems, ethical, legal or policies around these issues and we are waiting until we have an issue to deal with and then we ask ourselves. How do you deal is? But if people would realize that we are now in a global village, yeah, there’s no reason for us not to borrow vessels from elsewhere. Yes, there are International committees, International IRBs; we should be able to network with and say we have this submission. We are interested in getting external assessment”.