Standardized Criteria for Genomic Testing in the NICU

Genetic disorders are pervasive in neonatal intensive care unit (NICU) populations, and the superiority of genomic testing to rapidly identify genetic diagnoses is established, yet patients remain untested and undiagnosed.

In this single-center 19-month cohort study, outcomes before and after implementation of a clinical guideline standardizing genomic testing were evaluated in 2169 patients in the NICU (pre: 692, 31.9%; post: 1477, 68.1%). Primary outcomes were qualifying for and receipt of any genetic services and a diagnosis. Secondary outcomes included admission length and hospital charges.

The frequency of qualifying for genetic services across racial and birth weight (BW) categories differed: 643 (44.3%; 95% CI 41.8-46.9) white vs 155 (32.3%; 95% CI 28.1-36.5) Black, P < .001; and 584 (49.1%; 95% CI 46.3-52.0) normal vs 78 (23.2%; 95% CI 18.7-27.7) very and extremely low BW, P < .001. When adjusting for these differences, all populations experienced increases in genetics consultations, 177 (25.6%; 95% CI 22.3-28.8) vs 461 (31.2%; 95% CI 28.9-33.6), P = .007; completion of genomic testing, 62 (9.0%; 95% CI 6.8-11.1) vs 363 (24.6%; 95% CI 22.4-26.8), P < .001; and confirmed genetic diagnoses, 57 (8.2%; 95% CI 6.2-10.3) vs 172 (11.6%; 95% CI 10.0-13.3), P = .02. Patients receiving genomic testing experienced decreases in admission length, 46 vs 24 days, P = .008; and hospital charges, $561 536.00 vs $354 627.00, P = .03; regardless of testing outcome.

A significant number of patients in the NICU required genomic testing. However, differences existed across race and BW categories in qualifying for genomic services. Standardizing genomic care equitability improved access to testing and genetic disorder detection and lowered the use of health care resources.