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Genetic conditions impact morbidity and mortality in Neonatal Intensive Care Units (NICUs), with up to 50% of neonatal deaths linked to an underlying genetic disorder1. Additionally, neonates with genetic diagnoses tend to incur higher NICU costs, primarily due to prolonged hospital stays rather than the cost of genetic testing itself2. Therefore, timely and reliable genetic testing is crucial for this patient population. Rapid Whole Genome Sequencing (rWGS), in particular, has been shown to offer a higher diagnostic yield and greater clinical impact compared to targeted gene testing in critically ill neonates3,4. At HDVCH, there is currently no standardization of workflow for ordering rWGS in this patient population. The ordering geneticist chooses between two outside institution laboratories: "laboratory A" and "laboratory B" on a case-to-case basis as well as personal preference.

This study investigated our institutional experience of utilizing rWGS testing in our neonatal population and investigated differences between the two laboratories, notably the turnaround timing for results. The test characteristics of all rWGS ordered from January 2019 to July 2024 at our institution were reviewed. This data was presented to the providers within the Departments of Neonatology and Genetics, and a survey was conducted to collect general opinions of rWGS amongst these providers, as well as to determine if a standardization of workflow would be beneficial at our institution.

From January 2019 to July 2024, 106 rWGS were ordered on critically ill neonates; 84 of these were sent to "laboratory A" and 22 to "laboratory B." The turnaround time for rWGS results from "laboratory A" had a mean of 14 days, and 8 days for "laboratory B." There was no statistical significant difference for the type of result (diagnostic, variant of undetermined significance, negative) observed between the two laboratories. Interestingly, "laboratory A" offers preliminary results; 22 (26%) of rWGS sent to "laboratory A" had a preliminary result with a turnaround time of 3.8 days. All preliminary results carried a diagnostic result, except 1 variant of undetermined significance. Further investigation into the preliminary results demonstrated that 10 (45%) of the preliminary results did go on to significantly impact management of the patient. After presentation of this data to the providers within the Neonatology and Genetics Departments, surveys were conducted.

There is value in conducting rWGS on critically ill neonates and our institutional practices, like many large academic institutions, have demonstrated increasing popularity in utilization of this test. It is interesting to observe the disagreement between our Neonatology and Genetics departments regarding the perceived utility that a standardization of workflow regarding rWGS ordering habits within our institution would yield. Continued investigation into potential risks and benefits relating to cost and patient care outcomes are needed within to further guide decisions.

Publication Date

5-8-2026

Disciplines

Pediatrics

Comments

2026 Research Day Corewell Health West, Grand Rapids, MI, May 8, 2026. Abstract 1928

Rapid Whole Genome Sequence: A Level IV NICU Clinical Experience

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