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, neonatolo

SUBMITTER: Yu JH 

PROVIDER: S-EPMC12357158 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature