Abstract
To meet current and expected future demand for genome sequencing in the neonatal intensive care unit (NICU), adjustments to traditional service delivery models are necessary. Effective programs for the training of non-genetics providers (NGPs) may address the known barriers to providing genetic services including limited genetics knowledge and lack of confidence. The SouthSeq project aims to use genome sequencing to make genomic diagnoses in the neonatal period and evaluate a scalable approach to delivering genome sequencing results to populations with limited access to genetics professionals. Thirty-three SouthSeq NGPs participated in a live, interactive training intervention and completed surveys before and after participation. Here, we describe the protocol for the provider training intervention utilized in the SouthSeq study and the associated impact on NGP knowledge and confidence in reviewing, interpreting, and using genome sequencing results. Participation in the live training intervention led to an increased level of confidence in critical skills needed for real-world implementation of genome sequencing. Providers reported a significant increase in confidence level in their ability to review, understand, and use genome sequencing result reports to guide patient care. Reported barriers to implementation of genome sequencing in a NICU setting included test cost, lack of insurance coverage, and turn around time. As implementation of genome sequencing in this setting progresses, effective education of NGPs is critical to provide access to high-quality and timely genomic medicine care.
Highlights
Introduction iationsGenetic diseases are one of the leading causes of infant morbidity and mortality in the neonatal intensive care unit (NICU) [1,2]
The SouthSeq study aimed to explore the diagnostic utility of genome sequencing in a diverse population of patients in a NICU setting and test a scalable approach to the implementation of genome sequencing
SouthSeq and other related studies have established the clinical utility of genome sequencing for neonates with suspected genetic disorders, leading to increased diagnostic yield and decreasing overall healthcare spending [3–6]
Summary
Genetic diseases are one of the leading causes of infant morbidity and mortality in the neonatal intensive care unit (NICU) [1,2]. The time it takes for an infant to receive a genetic diagnosis is often far too long to appropriately guide clinical management, highlighting the need for new advances in diagnostic technologies [3]. Multiple recent studies have established the clinical utility of genome sequencing for neonates with suspected genetic disorders, leading to increased diagnostic yield and decreased overall healthcare spending [3–8]. Despite proven clinical utility of genome sequencing in the NICU, the genetics workforce, comprised of medical geneticists and genetic counselors, is insufficient to meet current demand for genetic testing in general, especially in the southern United. States [9–11], and increased usage of genetic testing will exacerbate this problem.
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