The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal...

Rapid genomic diagnostics in the Neonatal Intensive Care Unit represents a paradigm shift in medicine with increasing evidence of the utility of early diagnosis, impacting management. The goal of the Utah NeoSeq Project was to implement and evaluate a multidisciplinary and longitudinal rapid sequencing program while transitioning to CLIA-certified sequencing. Enrollment of 65 infants resulted in 26 (40%) with a diagnostic variant(s) and 7 (11%) harboring a strong candidate. This includes re-analyses resulting in four additional diagnoses. Parental surveys indicated that 7% (4/59) of parents had a decisional conflict after consent, and 3% (2/59) experienced decisional regret after the results. Fifty-two provider surveys were conducted. Seventy-nine percent (41/52) of results and 86% (19/22) of diagnostic results were "very useful" or "useful" and associated with management changes. The NeoSeq Project demonstrates that a multidisciplinary collaborative approach to diagnosis is feasible. We have developed a generalizable, collaborative protocol that addresses the need for expedited genetic evaluation with emerging technologies.