Table 1.

Responses to the technical aspects of the survey

		Sequencing platforms
		n	%	Diagnostic N = 9	Research N = 22	Diagnostic/research, N = 20	P-valuea
Panel size  (genes)
Small	< 50	23	45	6  (67%)	7  (32%)	10  (50%)	0.17
Medium	51–250	28	55	5  (56%)	14  (64%)	9  (45%)	0.48
Large	251–1000	26	51	4  (44%)	11  (50%)	11  (55%)	0.86
Very large	1001–5000	7	14	0  (0%)	4  (18%)	3  (15%)	0.40
WES		28	55	2  (22%)	16  (73%)	10  (50%)	0.03
WGS		22	43	0  (0%)	14  (64%)	8  (40%)	0.01
RNAseq		30	59	3  (33%)	16  (73%)	11  (55%)	0.12
Transcriptomics		21	41	3  (33%)	13  (59%)	5  (25%)	0.07
Sequencing depth
<25		1	2	0  (0%)	0  (0%)	1  (5%)	0.37
25–50		2	4	0  (0%)	0  (0%)	2  (10%)	0.15
51–100		15	29	0  (0%)	7  (32%)	8  (40%)	0.02
101–250		10	20	0  (0%)	5  (23%)	5  (25%)	0.08
251–1000		20	39	9  (100%)	8  (36%)	3  (15%)	0.21
>1000		3	6	0  (0%)	2  (9%)	1  (5%)	0.37
Certification
ISO		11	22	2  (22%)	4  (18%)	5  (25%)	0.53
CLIA		18	35	5  (56%)	5  (23%)	8  (40%)	0.61
NEN/similar		15b	27	4  (44%)	5  (23%)	5  (25%)	0.93
None		20b	39	1  (5%)	12  (60%)	6  (30%)	0.01

^aP-value represents χ² testing comparisons between the intent of the particular initiatives.

^bOne initiative did not indicate their intent.

ISO, international organization for standardization; CLIA, clinical laboratory improvement amendments; NEN, Netherlands Standardization Institute.