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Standardized Criteria for Genomic Testing in the NICU.

Benjamin M Helm1, Matthew Hays2, Kayleigh A Swaggart1

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Genomic testing in the neonatal intensive care unit (NICU) significantly increased genetic diagnoses and reduced hospital stays and costs. Standardizing care improved equitable access to crucial genetic services for all infants.

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Area of Science:

  • Neonatal Medicine
  • Genetics
  • Healthcare Policy

Background:

  • Genetic disorders are common in neonatal intensive care units (NICUs), with many patients remaining undiagnosed despite established genomic testing benefits.
  • Disparities in accessing genetic services exist across racial and birth weight (BW) categories within NICU populations.

Purpose of the Study:

  • To evaluate the impact of a standardized clinical guideline for genomic testing in a NICU population.
  • To assess changes in genetic service utilization, diagnosis rates, admission length, and hospital charges before and after guideline implementation.

Main Methods:

  • A single-center, 19-month cohort study involving 2169 NICU patients, comparing outcomes pre- and post-guideline implementation.
  • Primary outcomes included qualifying for and receiving genetic services and a diagnosis.
  • Secondary outcomes focused on admission length and hospital charges.

Main Results:

  • Standardized genomic care increased genetics consultations (25.6% vs 31.2%), genomic testing completion (9.0% vs 24.6%), and confirmed genetic diagnoses (8.2% vs 11.6%).
  • Despite initial disparities in qualifying for services, all populations saw improved access post-guideline.
  • Patients receiving genomic testing experienced reduced admission lengths (46 vs 24 days) and hospital charges ($561,536 vs $354,627).

Conclusions:

  • Standardizing genomic care in the NICU is essential for equitable access to genetic testing and diagnosis.
  • Genomic testing improves diagnostic yield and resource utilization, leading to shorter hospital stays and lower costs.
  • Addressing disparities in healthcare access is crucial for optimizing outcomes in critically ill neonates.