Table 3.

Prior Studies of the Diagnostic and Clinical Utility and Change in Outcome of rWES, rWGS, and urWGS in Children in ICUs

Reference	Date	Study Type	Sequencing Type	Neonatal and Pediatric Intensive Care Unit (NICU, PICU) Enrollment Criteria	Study Size	Rate of Diagnosis	Rate of Change in Management	Rate of Change in Outcome	Time to Result (days)
11	2012	cases	urWGS	NICU infants with suspected genetic disease	4	75%	N/D	N/D	2
12,13	2015	cohort	rWGS	<4 mo of age; suspected actionable genetic disease	35	57%	31%	29%	23
14	2017	cohort	rWES	<100 days of life; suspected genetic disease	63	51%	37%	19%	13
15	2018	RCT	rWGS	<4 mo of age; suspected genetic disease	32	41%	31%	N/D	13
16	2018	cohort	rWGS	infants; suspected genetic disease	42	43%	31%	26%	23
17	2018	cohort	rWES	acutely ill children with suspected genetic diseases	40	53%	30%	8%	16
18	2018	cohort	rWGS	children; PICU and cardiovascular ICU	24	42%	13%	N/D	9
19	2019	cohort	rWGS	4 months–18 years; PICU; suspected genetic diseases	38	48%	39%	8%	14
7	2019	cohort	rWGS	suspected genetic disease	195	21%	13%	N/D	21
20	2019	cases	urWGS	infants; suspected genetic disease	7	43%	43%	N/D	0.8
21	2019	cohort	rWES	<4 mo of age; ICU; hypotonia, seizures, metabolic, multiple congenital anomalies	50	54%	48%	N/D	5
22	2020	cohort	rWES	NICU & PICU; complex	130	48%	23%	N/D	3.8
23	2020	cohort	rWES	PICU; <6 years; new metabolic/neurologic disease	10	50%	30%	N/D	9.8
6, here	2019	RCT	rWGS	infants; disease of unknown etiology; within 96 h of admission	94	19%	24%	10%	11
			rWES		95	20%	20%	18%	11
			urWGS		24	46%	63%	25%	4.6
Weighted average, urWGS					35	49%	58%	25%	3.6
Weighted average, rWGS or rWES					894	37%	38%	16%	15.0

N/D, not done; RCT, randomized controlled trial.