Table 1

Select studies illustrating the diagnostic variability of genetic and genomic testing.

Study		Publication date	Number of subjects	Age (mean or median)	Clinical indication	Technology	Diagnosis rate (%)
Soden et al 35	Sci Trans Med	Oct 2014	100	7 years	NDD	GS R-GS ES	47 73 40
Lee et al 97	JAMA	Nov 2014	814	>18 years	Any	ES	26
Yang et al 98	JAMA	Nov 2014	2000	6 years	DD	ES	25.2
Wright et al 99	Lancet	Dec 2014	1133	6 years	NDD	ES	27
Gilissen et al 64	Nature	Jul 2014	50	>18 years	ID	GS	42
Willig et al 61	Lancet Respir Med	May 2015	35	>4 months	Any	R-GS SCP	57 9
Petrikin et al 86	SEM Perinatol	Dec 2015	35	26 days	Any	GS	57
Stavropoulos et al 65	NPJ Genom Med	Jan 2016	110	>18 years	NDD	GS CMA CMA+TGS	34 8 13
Rump et al 36	BMC Med Genom	Feb 2016	38	10 years	ID	ES	29
Vissers et al 76	Genet Med	Mar 2017	150	>18 years	NDD	ES SCP	29.3 7.3
Lionel et al 44	Genet Med	Aug 2017	103	>18 years	Any	GS	41
Petrikin et al 66	NPJ Genom Med	Feb 2018	65	>4 months	Any	R-GS Standard tests	31 3
van Diemen et al 100	Paediatrics	Oct 2017	23	>12 months	Any	R-GS	30
Farnaes et al 73	NPJ Genome Med	Apr 2018	42	>4 months	Any	R-GS Standard tests	43 10

CMA, chromosomal microarray; DD, developmental delay;ES, exome sequencing; GS, genome sequencing; ID, intellectual disability;NDD, neurodevelopmental disorder; R-GS, rapid-genome sequencing; SCP, standard care pathway; TGS, targeted gene sequencing.