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Updated: May 7, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Understanding perspectives of safety-net NICU neonatologists disclosing genomic sequencing results: a mixed methods
Sonia Hills1, Meghan Werner1, Jessica Douglas1
1Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
Objective:
Examine neonatologists' perspectives on disclosing rapid genomic sequencing (rGS) results, including the barriers and facilitators they perceive.
Study Design:
Neonatologists from 10 NICUs participating in the Virtual Genome Center (VIGOR) study were surveyed after each rGS disclosure and interviewed regarding their experience after 2 or more disclosures. Quantitative results were compared by result type, and qualitative results were iteratively coded for themes.
Results:
93% of neonatologists felt comfortable disclosing rGS results regardless of result type. Neonatologists utilized multiple resources to prepare for disclosures, including the VIGOR Clinical Interpretive Report, medical literature, and local genetics experts. They preferred to have a geneticist present during disclosure when possible. Neonatologists were motivated to participate in disclosures to help families and leverage existing trust.
Conclusion:
Neonatologists are important to the rGS disclosure experience, but a joint effort with genetics experts may be the ideal model to successfully expand access.
Trial Registration Number:
NCT05205356/clinicaltrials.gov .
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