Parental Perspectives Regarding the Return of Genomic Findings in NeuroDevelopmental Disorders – A South African Study

Introduction: There is a lack of policies and research regarding the disclosure of results in genomic research, especially in South Africa. Challenges remain regarding the disclosure of genomic research results to research participants and their families, which may partly be addressed by considering parental and participants' preferences. This study serves as a sub-study to the NeuroDev study which is performing genotyping and exome sequencing on children with NeuroDevelopmental disorders in the Western Cape; and will investigate a feedback of findings method pertaining to the needs and preferences of the patient community. Aims: To investigate parents' understanding of the genomic research study they are participating in as well as their preferences regarding the feedback process and anticipated contributions of significant genetic findings generated by the NeuroDev study. This study further hopes to inform a tailored feedback policy reflecting the needs of this South African population. Research Design: A pragmatic qualitative approach was used by conducting 12 semi-structured interviews with 17 parents of children participating in the NeuroDev study. Purposive sampling was used, selecting retrospectively from patients recruited for the NeuroDev study in which findings of de novo, significant mutations are more likely expected. Interviews were conducted in English, in a private setting at Red Cross War Memorial Children's Hospital (RCWMCH), and were audio-recorded by the researcher; observations and field notes were documented. Generated data was analyzed using thematic analysis to generate themes and transcripts were imported into NVivo 12 to assist with managing and organizing the data for analysis. Ethical approval was been obtained from the University of Cape Town (UCT) (HREC 784/2018). Results: Empiric data collection ran from May to July 2019 and preliminary data was presented at the NeuroDev AGM and on a poster at the SASHG conference, RCWMCH research open day and UCT postgraduate research day. Findings ...