Feedback of individual genetic and genomics research results: A qualitative study involving grassroots communities in Uganda

Abstract

Background Genetics and genomics research (GGR) is associated with several challenges including, but not limited to, methods and implications of sharing research findings with participants and their family members, issues of confidentiality, and ownership of data obtained from samples. Additionally, GGR holds significant potential risk for social and psychological harms. Considerable research has been conducted globally, and has advanced the debate on return of genetic and genomics testing results. However, such investigations are limited in the African setting, including Uganda where research ethics guidance on return of results is deficient or suboptimal at best. The objective of this study was to assess perceptions of grassroots communities on if and how feedback of individual genetics and genomics testing results should occur in Uganda with a view to improving ethics guidance. Methods This was a cross-sectional study that employed a qualitative exploratory approach. Five deliberative focus group discussions (FGDs) were conducted with 42 participants from grassroots communities representing three major ethnic groupings. These were rural settings and the majority of participants were subsistence farmers with limited or no exposure to GGR. Data were analysed through thematic analysis, with both deductive and inductive approaches applied to interrogate predetermined themes and to identify any emerging themes. NVivo software (QSR international 2020) was used to support data analysis and illustrative quotes were extracted. Results All the respondents were willing to participate in GGR and receive feedback of results conditional upon a health benefit. The main motivation was diagnostic and therapeutic benefits as well as facilitating future health planning. Thematic analysis identified four themes and several sub-themes including 1) the need-to-know health status 2) paternity information as a benefit and risk; 3) ethical considerations for feedback of findings and 4) extending feedback of genetics findings to family and community. Conclusion Participation in hypothetical GGR as well as feedback of results is acceptable to individuals in grassroots communities. However, the strong therapeutic and/or diagnostic misconception linked to GGR is concerning given that hopes for therapeutic and/or diagnostic benefit are unfounded. Viewing GGR as an opportunity to confirm or dispute paternity was another interesting perception. These findings carry profound implications for consent processes, genetic counselling and research ethics guidance. Privacy and confidentiality, benefits, risks as well as implications for sharing need to be considered for such feedback of results to be conducted appropriately.

Awareness, experiences and perceptions regarding genetic testing and the return of genetic and genomics results in a hypothetical research context among patients in Uganda: a qualitative study

“…The issue of GGR affordability of genetic testing has also been raised in a related study involving grassroots communities in Uganda that proposed the use of meaningful and beneficial community engagement to address the gaps and facilitate poststudy access. 19 The fears concerning the cost of genetic testing is worsened by the fact that African populations retain more genetic diversity yet are tremendously under-represented in genetic studies. Limited genetic data and testing services on the continent as a consequence of global health inequity remains a social justice challenge.…”

“…The FGDs were conducted using a guide adopted from related work. 19 Respondents were assessed about their perspectives in a hypothetical GGR setting. Initially, participants were asked general questions on awareness and knowledge about genetics, this was followed by an explanation/ educational session on genetics, genes, DNA, genome, genetic testing and feedback of results lasting about 30 min.…”

‘It is a complex process, but it’s very important to return these results to participants’. Stakeholders’ perspectives on the ethical considerations for returning individual pharmacogenomics research results to people living with HIV

“…They can be facilitated by use of relevant life scenarios and other educative materials, such as visual aids to enhance participants’ comprehension of pharmacogenomics research information. Similar studies have also highlighted the need to use such materials to promote participants’ complete understanding of genomics and genetics studies (Ochieng et al, 2022; Wilczewski, 2020).…”

“…Nonetheless, studies from sub-Saharan Africa have reported inadequate, unclear, or an absence of national guidelines for the returning of genomics research results, yet the ethical, legal, and social implications of these results do not only affect participants but may also affect family members and research communities (Chanda-Kapata et al, 2015; de Vries et al, 2017; Staunton and de Vries, 2020). Researchers in sub-Saharan Africa have reported several ethical considerations for the returning of individual genomic and genetics results, including the need for community engagement, genetics counselling services and determining appropriate methods of communicating genetics results to participants (Matimba et al, 2022; Ochieng et al, 2022). However, there is limited literature on how individual results from pharmacogenomics research should be safely returned to people living HIV, a chronic disease that is still associated with many ethical and social issues.…”

The role of community engagement in promoting research participants’ understanding of pharmacogenomic research results: Perspectives of stakeholders involved in HIV/AIDS research and treatment

“…These guidelines emphasize that communities are not homogeneous, so researchers ought to employ creative approaches that minimize the potential risks to participants and research communities when communicating pharmacogenomic and genomic information. It is important to note that individual pharmacogenomic and genomic research results may present findings with ethical, legal and social implications that may not only affect research participants but also extend to families and research communities [32]. Therefore, inappropriate approaches of communicating pharmacogenomic research results at community and individual levels might raise concerns such as loss of privacy and breach of confidentiality, which may stigmatize research participants and their family members.…”