Stakeholder Perspectives on Public Health Genomics Applications for Sickle Cell Disease: A Methodology for a Human Heredity and Health in Africa (H3Africa) Qualitative Research Study

Abstract

Advances in omics technologies alone are not a guarantee that science will translate to robust responsible innovation that is firmly grounded in societal values. This study aimed to identify best practices for Ethical, Legal, and Social Implications (ELSI) research in Africa that allows for optimal integration of community perspectives into the design and implementation of genomics research. In a large sample of 346 stakeholders in Cameroon, Ghana, and Tanzania (59% women), we used a qualitative study design with a phenomenological approach and conducted 32 group and 74 individual interviews (25% rural). We imported interview recordings into NVivo software for analysis. We created a “concept map” to organize the coded information, with Perspectives on Genomics and Sickle Cell Disease (SCD) Public Health Interventions as the central themes. We found that (1) analyses of major subthemes across and within countries revealed differential knowledge and experiences of SCD, and perspectives on various aspects of research and genomics; (2) we were able to gather empirical data efficiently from urban and rural stakeholders, to study the issues related to sample sharing, consent processes, and return of clinical and genomic study results; (3) the concept of nondirectiveness in modern genetic medicine practice can be challenged by the views of stakeholders in the context of a high-burden disease such as SCD; and (4) linking community views to current and proposed public health interventions could be understood within the context of each specific country. Our work informs future qualitative social science and technology policy research designs on genomics applications in Africa

Exploring the Role of Shared Decision Making in the Consent Process for Pediatric Genomics Research in Cameroon, Tanzania, and Ghana

“…This study was part of a larger empirical ethics study aiming to explore the perspectives of a broad range of community stakeholders regarding participation in genomics research on sickle cell disease (SCD) (Treadwell et al 2017). This was a cross-sectional study that used purposive sampling and qualitative research strategies to develop an in-depth understanding of cultural influences on perspectives on and attitudes towards genomic research and on perceptions about public health interventions for SCD-related complications in Cameroon, Ghana, and Tanzania (Treadwell et al 2017). For the current manuscript, we drew on indepth interviews and focus group discussions conducted in this larger project to explore data relating to decision-making for participation in genomics research.…”

“…General limitations of the project as a whole have been discussed in a dedicated paper on the study methodology (Treadwell et al 2017). Specific to the present article, language could be a limitation, as translation in English was needed for some interviews from French in Cameroon, Twi in Ghana, and Swahili in Tanzania.…”

Relation Between Religious Perspectives and Views on Sickle Cell Disease Research and Associated Public Health Interventions in Ghana

“…Informed consent was obtained from all participants included in the study. Details of the study’s methodology have been published elsewhere (Treadwell et al ) so will be reviewed only briefly.…”

“…Our research aims to inform policies and practices in relation to some aspects of genomic research and SCD public health interventions, within the context of religious institutions that are so central to everyday life. (Treadwell et al 2017) so will be reviewed only briefly.…”

“…We conducted an ethical, legal, and social implications (ELSI) research pilot project within the H3Africa consortium that (1) explored perspectives and attitudes regarding genomic research and its implementation and implications in Cameroon, Ghana, and Tanzania and (2) assessed perceptions about public health interventions aimed at increasing awareness, early detection and prevention of SCD‐related complications (Treadwell et al ). The goal of the current project, drawn from the larger study, was to use qualitative research methods to identify perceptions and attitudes of stakeholders in Ghana about (1) the appropriateness of biological specimens that might be used in SCD‐related genomic research and (2) SCD public health interventions that would appropriately be accompanied by genetic counseling.…”