Table 2.
Demographics characteristics of initial manual curated and larger phenotyping-based cohorts. WES/WGS: whole-exome sequencing/whole-genome sequencing. Panel: gene panel.
| Demographics Characteristics | Clinicians–Curated Genetic Cohort (n=1,005) | EHR Phenotyping-based Cohort (n = 6,458) | ||
|---|---|---|---|---|
| WES/WGSa | Panela | WES/WGSb | Panelb | |
|
| ||||
| Race | ||||
| White | 271 (227) | 102 (146) | 1447 | 1642 |
| Black or African American | 79 (58) | 34 (55) | 344 | 363 |
| Asian | 30 (25) | 9 (14) | 116 | 78 |
| Other (e.g., American Indians or Alaska nation) | 2 (2) | 4 (4) | 504 | 42 |
| Not described | 176 (139) | 79 (116) | 42 | 592 |
| Decline or not specified | 151 (119) | 68 (100) | 578 | 710 |
|
| ||||
| Sex | ||||
| Male | 452 (362) | 169 (259) | 1687 | 1502 |
| Female | 257 (208) | 127 (176) | 1342 | 1924 |
| Other | - | - | 2 | 1 |
|
| ||||
| Age at the index date | ||||
| Mean age ± Std | 4.88 ± 4.87 (4.92 ± 5.00) | 5.88 ± 5.91 (5.50 ± 5.46) | 5.56 ± 5.53 | 10.05 ± 6.09 |
| Median age | 3.48 (3.46) | 3.65 (3.61) | 5.27 | 10.87 |
| 0 – 5 | 443 (359) | 165 (249) | 1470 | 914 |
| 5 – 10 | 140 (103) | 52 (89) | 722 | 675 |
| 10 – 15 | 93 (79) | 47 (61) | 505 | 837 |
| >= 15 | 33 (29) | 32 (36) | 334 | 1001 |
|
| ||||
| Total WES/WGS cases | 709 (570) | 296 (435) | 3,031 | 3,427 |
a
Genetic testing labels annotated by clinicians, followed by the label counts after adjustment (statistics before label adjustment).
b
Genetic testing labels extracted from clinical narrative notes based on phenotyping approach.