Table 2.

Summary of studies on next-generation sequencing for newborn screening.

References	Study type	Platform	Number of genes assessed	Samples	Study population	Sensitivity	Specificity
Bhattacharjee et al. (50)	Retrospective	NGS gene panel – NBDx; and WES	126	36 subjects with known IEM – proband only	Amish and Mennonite	75% without clinical information; 94% with clinical information	Not addressed
Bodian et al. (58)	Retrospective	WGS – Illumina or complete genomics	163	1,696 neonates – trios	Family trios enrolled at Inova Fairfax Hospital	88.6% concordance of NBS and WGS	Not addressed – for recessive disorders 2.9% with uncertain WGS results compared to 0.013% for NBS
Cho et al. (60)	Retrospective	WES	307 total, 65 related to NBS	103 patients 81 known patients 10 carriers 12 negative controls	Patients at Yonsei Severance Hospital, Republic of Korea	92.5% – with clinical information	Not addressed
van Campen et al. (52)	Proof of principle to address feasibility including cost and TAT	NGS gene panel – NBS2	5	Healthy adults	Adults in the UK	Analytic sensitivity 100%, disease samples not assessed	Analytic specificity 99.96%, disease samples not assessed
Roman et al. (54)	Prospective for the healthy cohort; retrospective for the affected cohorts	WES	466	106 newborns	61 healthy 17 with an IEM 28 with hearing loss	88% for IEM	Not addressed
Adhikari et al. (55)	Retrospective	WES	78	1,012 individuals in the test set: 674 affected with an IEM and 338 unaffected and false positive on MS/MS NBS	IEM-affected individuals from a birth cohort of 4.5 million newborns over 8.5 years in California	88–93.7% after clinical review of cases	98.4%