Expanding implementation of pediatric whole-genome sequencing: Insights from SeqFirst providers to inform equitable access to a precise genetic diagnosis.

Abstract

Whole-genome sequencing (WGS) as a diagnostic test offers children suspected of having a rare genetic condition and their families the best direct path toward securing a precise genetic diagnosis (PrGD). Yet, a limited supply and inequitable access to genetic services are impediments to realizing the benefits of a PrGD. Such access disparities might be due to a range of structural and social determinants that manifest in interactions, or the lack thereof, between families, providers, and institutions. Semi-structured key informant interviews (n = 19) were conducted with neonatologists and neurodevelopmental clinic providers (NDV providers) who referred families to the SeqFirst study to identify barriers and inform strategies to improve equitable access to a PrGD via WGS. Overall, neonatologists and NDV providers were enthusiastic about offering WGS to their patients and families despite different contexts of medical care. Providers cited several considerations that influenced their introduction of WGS and genetic testing to families, including their perceptions of families' capacity, readiness, and distrust and the establishment of sufficient provider-family rapport. These considerations influenced providers' timing and introduction of genetic testing and WGS to families. Together, these findings suggest that providers' perceptions of families may result in delayed introduction of WGS.‬ Despite enthusiasm for early WGS across medical subspecialties, providers' perceptions of families and their social contexts highlight both challenges and opportunities in the implementation of WGS to promote and maximize equitable access.