Table 1.
Patient Characteristics
| Variable | Total w/Insurance Coverage Barriers for WES N/66 (%) | Diagnostic WES N/23 (%) | Non-diagnostic WES N/43 (%) | |
|---|---|---|---|---|
| Male sex | 33 (50) | 9 (39) | 24 (56) | |
| Age (years) | 14.6 (1 - 56)a | 12.3 (2 – 48)a | 15.8 (1 – 56)a | |
| Pediatric (<18yo) | 48 (73) | 18 (78) | 30 (70) | |
| Race | ||||
| White | 43 (65) | 18 (78) | 25 (58) | |
| Asian | 4 (6) | 1 (4) | 3 (7) | |
| Black/African American | 7 (11) | 1 (4) | 6 (14) | |
| Other | 10 (15) | 2 (9) | 8 19) | |
| Not reported | 2 (3) | 1 (4) | 1 (2) | |
| Hispanic/Latino | 17 (26) | 6 (26) | 11 (26) | |
| Primary clinical indication | ||||
| Neurology | 30 (46) | 15 (65) | 15 (35) | |
| Other | 8 (12) | 3 (13) | 5 (12) | |
| Musculoskeletal/Orthopedic | 10 (15) | 3 (13) | 7 (16) | |
| Gastroenterology | 4 (6) | 1 (4) | 3 (7) | |
| Endocrinology | 3 (5) | 1 (4) | 2 (4) | |
| Cardiology and vascular | 1 (2) | -- | 1 (2) | |
| Allergy/Immunology | 2 (3) | -- | 2 (5) | |
| Dentistry/Craniofacial | 2 (3) | -- | 2 (5) | |
| Rheumatology | 2 (3) | -- | 2 (5) | |
| Hematology | 1 (2) | -- | 1 (2) | |
| Nephrology | 1 (2) | -- | 1 (2) | |
| Ophthalmology | 1 (2) | -- | 1 (2) | |
| N/A | 1 (2) | -- | 1 (2) | |
| Type of WES | ||||
| Proband-only | 4 (6) | 1 (4) | 3 (7) | |
| Duo | 10 (15) | 2 (9) | 8 (19) | |
| Trio | 40 (61) | 15 (65) | 25 (58) | |
| Quad | 8 (12) | 5 (22) | 3 (7) | |
| Other | 4 (6) | -- | 4 (9) | |
a
mean (range)