Exploring the psychosocial impact of the outcomes of whole genome sequencing on caregivers of children with cleft lip and palate
Creators: name: Oladayo, Abimbola Muinat
Publisher: name: University of Iowa
Year: 2025
Subjects: ELSI
Mixed Methods
Orofacial Clefts
Transactional Theory of Stress and Coping
Mental Health

description: Background
description: The objectives of this study were to investigate the behavioral outcomes of children with clefts and the psychosocial impact and mental health experiences of their caregivers regarding unintended outcomes of genomic sequencing, i.e., secondary genetic findings (SFs).
description: Methods
description: We used the convergent parallel mixed methods design in this study. The transactional theory of stress and coping guided the development of the qualitative research instrument. Participants in the quantitative component included a dyad of 127 children with clefts and their accompanying caregivers attending the cleft clinic and 158 caregivers of children without clefts attending the immunization clinic. Both cohorts were recruited from the Lagos University Teaching Hospital, Lagos, Nigeria. Participants for the qualitative component consisted of 22 caregivers purposively sampled from the attendees of the cleft clinic at the Lagos University Teaching Hospital, Lagos, Nigeria.
description: In the quantitative component, the caregivers reported on their mental health, quality of life, and their children's behavioral difficulties. Additionally, they shared their experiences and beliefs around genomic testing outcomes, including SFs, mental health, and expectations in the context of OFCs in the qualitative component. The quantitative data were collected using interviewer-administered surveys, while two focus group discussions were conducted to collect qualitative data. The qualitative and quantitative data were analyzed independently prior to merging and comparing the results. Data collection lasted from March 1, 2023, to December 23, 2023.
description: Results
description: The primary caregivers of children with clefts reported poorer mental health, higher levels of anxiety and depression, and poorer quality of life compared to the control caregivers. Additionally, they reported higher levels of behavioral difficulties in their children compared to the control caregivers. Also, caregivers of children with clefts believed that the introduction of the outcomes of WGS, including SFs, may exacerbate existing burdens. Furthermore, we identified five themes following the analyses of the qualitative data - caregivers' genetics knowledge and awareness, stressors, cognitive appraisals, coping and support strategies and negative impact and positive gains. The merger of the qualitative and quantitative results showed that caring for cleft-affected children required significant financial resources, the absence of which places substantial stress on caregivers. Additionally, female caregivers reported facing significant stressors from societal pressures in addition to child care requirements. Based on the support received from their social networks and successful treatment outcomes following surgical cleft repair, a sense of relief and positive shift in outlook was reported by caregivers as their children developed. We were however not able to reach a point of convergence following the triangulation of data on the impact and directionality of increased perception of SFs on caregivers anxiety or depression symptoms. We were also not able to ascertain that having a good genetic knowledge or awareness significantly improved the quality of life of parents of children with clefts.
description: Conclusion
description: The continuous caregiving needs in children who have clefts place a considerable burden on their caregivers, which could, in turn, affect their perception of quality of life and their mental health. Although assessed hypothetically, caregivers shared that in addition to the relief and concerns that could accompany receiving the outcomes of genome sequencing, SFs might potentially exacerbate existing stress. The findings emphasized the importance of addressing caregivers' psychosocial needs and developing tailored support strategies, particularly in resource-limited settings like Africa. These insights have significant implications for policy and practice in preparing for the return of genomic sequencing outcomes to patients and research participants.
description: Keywords: ELSI, Transactional Theory of Stress and Coping, Mental Health, Orofacial Clefts, Nigeria, Mixed Methods.