key: cord-0310852-odbaz5v1 authors: Ochieng, J.; Kwagala, B.; Barugahare, J.; Möller, M.; Moodley, K. title: Feedback of Individual Genetic and Genomics Research Results: A Qualitative Study Involving Grassroots Communities in Uganda date: 2022-04-16 journal: nan DOI: 10.1101/2022.04.08.22273613 sha: 36838e8b30dad2f4955fdb494092c174bd419652 doc_id: 310852 cord_uid: odbaz5v1 Abstract: (372 Words) Background: Genetics and genomics research (GGR) is associated with several challenges including, but not limited to, implications of sharing research findings with participants and their family members, issues of confidentiality, determining appropriate methods for providing genetic or genomic information to individuals tested, and ownership of DNA obtained from the samples. Additionally, GGR holds significant potential risk for social and psychological harms. A considerable amount of research has been conducted with resultant literature and global debate on return of genetic and genomics testing results, but such investigations are limited in the African setting, including Uganda. The objective of the study was to assess perceptions of grassroots communities on if and how feedback of individual genetics and genomics testing results should be carried out in a Ugandan setting. Methods: This was a cross-sectional study that employed a qualitative exploratory approach. A total of 42 individuals from grassroots communities representing three major ethnic groupings participated in five deliberative focus group discussions. Data were analysed through content analysis along the main themes of the study. NVivo software (QSR international 2020) was used to support data analysis and illustrative quotes were extracted. Results: Of the 42 respondents 23 (55%) were male with an age range of 18-77 years. Most (70%) were small scale farmers, and the majority were Christians, who were married and had children. They all lived in a rural community in one of the three regions of the country and had no prior participation in GGR. All the respondents were willing to undergo genetics testing and receive feedback of results with the main motivation being diagnostic and therapeutic benefits as well as facilitating future health planning. Content analysis identified three themes and several sub-themes including 1) the need to know ones health status; 2) ethical considerations for feedback of findings and 3) extending feedback of genetics findings to family and community Conclusion: Participation in hypothetical genetics and genomics research as well as feedback of testing results is acceptable to individuals in grassroots communities. The strong therapeutic misconception linked to GGR is concerning and has implications for consent processes and genetic counselling. Privacy and confidentiality, benefits, risks as well as implications for sharing need to be considered for such feedback of results to be conducted appropriately. Although the expanding applicability of knowledge generated from genetics and 82 genomics research (GGR) holds great promise for discoveries in the biomedical and 83 socio-behavioural sciences, it also raises challenging ethical and societal issues. Such 84 challenges include, but are not limited to, implications of sharing research findings with . CC-BY 4.0 International license It is made available under a is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity. The copyright holder for this preprint this version posted April 16, 2022. ; https://doi.org/10.1101/2022.04.08.22273613 doi: medRxiv preprint 85 participants and their family members, issues of confidentiality, determining 86 appropriate strategies for providing genetic or genomic information to individuals 87 tested, and ownership of Deoxyribonucleic Acid (DNA) obtained from the samples 3]. Furthermore, GGR has significant potential risk for social and psychological harms, 89 for example, studies that generate information about an individual's health risks can 90 provoke anxiety and confusion, damage familial relationships, and/or compromise the 91 individual's future financial status [4] [5] [6] [7] . Results could also possibly be used as a basis 92 for ethnic/racial segregation or discrimination such as denial of insurance coverage or 93 employment [8] . Study design and Setting: 123 This was a cross-sectional study that employed a qualitative exploratory approach. 124 The study was conducted by a team of academics comprising bioethicists and session was followed by a discussion moderated by the FGD guide. The discussion 154 included willingness to participate in GGR, willingness to receive feedback following 155 genetic testing, conditions for feedback and extending feedback to family and . CC-BY 4.0 International license It is made available under a is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity. (which was not certified by peer review) anxiety for one to be told of a disease, yet it has no available treatment. . CC-BY 4.0 International license It is made available under a is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity. (which was not certified by peer review) facilitates the government to plan and build hospitals that will specialise in managing 259 those diseases. Others felt that it will be an added advantage because they will have 260 gained more health information about themselves to help predict the future. where disclosure of cancer results to patients was felt to have hastened death. They . CC-BY 4.0 International license It is made available under a is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity. The copyright holder for this preprint this version posted April 16, 2022. Some respondents noted that feedback of genetics results has the potential to reveal 325 discordance in paternity and this has the potential to cause family break ups and 326 associated psychological harm and suffering both to the child and the discordant 327 parent. There was also concern about being diagnosed with a condition that is beyond 328 the affordability of the family which could end up consuming all the family resources. is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity. (which was not certified by peer review) . CC-BY 4.0 International license It is made available under a is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity. (which was not certified by peer review) . CC-BY 4.0 International license It is made available under a is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity. The copyright holder for this preprint this version posted April 16, 2022. it was necessary to share the findings of genetic testing with individuals who will take 472 care of them in case they become sick. Some respondents felt it was acceptable to share their genetics results with the 508 community because they would support you in case you are unwell. Others observed 509 that it was right to share because the DNA testing results do not necessarily mean that . CC-BY 4.0 International license It is made available under a is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity. The copyright holder for this preprint this version posted April 16, 2022. Respondents who did not favour extending feedback of genetics results with 527 community thought that it was private health information for the family that should not hand, yet most would prefer the presence of a family member during feedback of 650 results a process which they thought could as well be done at participants' homes. Hence the concept of confidentiality in these communities needs to be clarified and 652 could imply keeping information not only to the individual tested but within their close 653 family. Other aspects that need to be appropriately addressed to facilitate . CC-BY 4.0 International license It is made available under a is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity. . CC-BY 4.0 International license It is made available under a is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity. . CC-BY 4.0 International license It is made available under a is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity. (which was not certified by peer review) The copyright holder for this preprint this version posted April 16, 2022. ; https://doi.org/10.1101/2022.04.08.22273613 doi: medRxiv preprint The individuals who participated in the study were research naive and may not have 713 fully appreciated the implications of participation in GGR and feedback of the 714 associated results. 715 Since the study was conducted in three different languages, the researchers needed 716 assistance from individuals fluent in the respective languages to conduct the dFGDs 717 and this might have affected the quality of the interviews and the subsequent data. Furthermore, the expectation of paternity testing results being embedded in all GGR . CC-BY 4.0 International license It is made available under a is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity. (which was not certified by peer review) The copyright holder for this preprint this version posted April 16, 2022. ; https://doi.org/10.1101/2022.04.08.22273613 doi: medRxiv preprint . CC-BY 4.0 International license It is made available under a is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity. (which was not certified by peer review) The copyright holder for this preprint this version posted April 16, 2022. ; https://doi.org/10.1101/2022.04.08.22273613 doi: medRxiv preprint Privacy and confidentiality, benefits, risks as well 736 as implications for sharing need to be considered for feedback of results to be National Council for Science and Technology 744 745 Availability of data and materials: Data sources are available on JO & BK analysed data; KM and MM reviewed all 751 transcripts and edited all drafts of the manuscript. 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