Table 1

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

StudyPublication dateNumber of subjectsAge (mean or median)Clinical indicationTechnologyDiagnosis rate (%)
Soden et al35Sci Trans MedOct 20141007 yearsNDDGS
R-GS
ES
47
73
40
Lee et al97JAMANov 2014814>18 yearsAnyES26
Yang et al98JAMANov 201420006 yearsDDES25.2
Wright et al99LancetDec 201411336 yearsNDDES27
Gilissen et al64NatureJul 201450>18 yearsIDGS42
Willig et al61Lancet Respir MedMay 201535>4 monthsAnyR-GS
SCP
57
9
Petrikin et al86SEM PerinatolDec 20153526 daysAnyGS57
Stavropoulos et al65NPJ Genom MedJan 2016110>18 yearsNDDGS
CMA
CMA+TGS
34
8
13
Rump et al36BMC Med GenomFeb 20163810 yearsIDES29
Vissers et al76Genet MedMar 2017150>18 yearsNDDES
SCP
29.3
7.3
Lionel et al44Genet MedAug 2017103>18 yearsAnyGS41
Petrikin et al66NPJ Genom MedFeb 201865>4 monthsAnyR-GS
Standard tests
31
3
van Diemen et al100PaediatricsOct 201723>12 monthsAnyR-GS30
Farnaes et al73NPJ Genome MedApr 201842>4 monthsAnyR-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.