Education and Training of Non-Genetics Providers on the Return of Genome Sequencing Results in a NICU Setting

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.

Critical components of genomic medicine practice for non‐genetics healthcare professionals: Genetic counselors' perspectives and implications for medical education

“…Genetics/genomics education initiatives for NGHPs like these have been developed by multiple stakeholder groups and professional organizations described above. Initiatives like these have been shown to increase confidence, impact clinical practices such as referral rate, and increase knowledge (East et al, 2022; Houwink et al, 2014; Reed et al, 2016). As experts in genetics/genomics with a vested interest in and the skills to educate NGHPs, GCs may serve in key roles in increasing the knowledge base of NGHPs in genetics/genomics.…”

Role of genomic medicine and implementing equitable access for critically ill infants in neonatal intensive care units

“…These can range from “big picture” criteria for when to consider GS in the NICU population to “little details” steps on consenting parents, ordering and collecting GS samples in a specific NICU system, and returning the different types of GS results (e.g., positive result, negative result, secondary finding, variant of uncertain significance). Preliminary results from SouthSeq, which randomized return of GS results to families by GCs or NGPs, demonstrated that NGPs reported increased confidence in interpreting results and managing care based on results after receiving education and training [ 40 ].…”

A team‐based approach to cardiogenomic education

“…According to the 2022 Professional Status Survey of the National Society of Genetic Counselors, 46% of respondents reported education/teaching to be a significant role performed as part of their position and the second most reported role performed after “Direct Patient Care” across all positions (National Society of Genetic Counselors, 2022). While GCs are involved in a diverse array of genetic education programs for healthcare providers (East et al., 2022; Jackson et al., 2020; Reed et al., 2016), like the broader efforts in genetics education, there are only limited reports in the literature about the approach genetic counselors take to developing and delivering education and how that work is supported (Nisselle et al., 2021).…”