Parents and Provider Perspectives on the Return of Genomic Findings for Cleft Families in Africa

Abstract

Background

Inadequate knowledge among health care providers (HCPs) and parents of affected children limits the understanding and utility of secondary genetic findings (SFs) in under-represented populations in genomics research. SFs arise from deep DNA sequencing done for research or diagnostic purposes and may burden patients and their families despite their potential health importance. This study aims to evaluate the perspective of both groups regarding SFs and their choices in the return of results from genetic testing in the context of orofacial clefts.

Methods

Using an online survey, we evaluated the experiences of 252 HCPs and 197 parents across participating cleft clinics in Ghana and Nigeria toward the return of SFs across several domains.

Results

Only 1.6% of the HCPs felt they had an expert understanding of when and how to incorporate genomic medicine into practice, while 50.0% agreed that all SFs should be returned to patients. About 95.4% of parents were willing to receive all the information from genetic testing (including SFs), while the majority cited physicians as their primary information source (64%).

Conclusions

Overall, parents and providers were aware that genetic testing could help in the clinical management of diseases. However, they cited a lack of knowledge about genomic medicine, uncertain clinical utility, and lack of available learning resources as barriers. The knowledge gained from this study will assist with developing guidelines and policies to guide providers on the return of SFs in sub-Saharan Africa and across the continent.

Keywords:

• Secondary findings
• oro-facial clefts
• genomics research
• sub-Saharan Africa
• providers
• parents

Acknowledgments

We appreciate the families that participated in this study and our collaborators in Ghana and Nigeria (Komfo Anokye Teaching Hospital and Lagos University Teaching Hospital).

Disclosure statement

The authors report there are no competing interests to declare.

Additional information

Funding

This work was supported by the National Institutes of Health under Grant [NIH DE028300], the National Institute of Dental and Craniofacial Research (NIDCR)/Fogarty International Center (FIC) under grant [NIH K43DE029427] and the National Institute of Dental and Craniofacial Research T90 Training Grant under grant [NIH DE023520].