Table 1.
Demographics and ordering metrics of patients who underwent clinical genome sequencing
| Characteristics | Total # patients n = 80 | Total # patients diagnosed n = 19 (24%) | Total # no diagnosis n = 61 (76%) | Diagnosis rate comparison |
|---|---|---|---|---|
| Demographics | ||||
| Patient age at testing | 5.7 | 7.3 | t = 1.115, p = 0.268 | |
| Currently deceased | 10 (12.5%) | 6/19 (31.5%) | 4/61 (6.6%) | x2(1) = 8.29, p = 0.004 |
| Inpatients | 21 (26.3%) | 11 (58%) | 10/61 (16.4%) | x2(1) = 12.889, p < 0.001 |
| Sequencing mode | Trio vs. other modes: | |||
| Trio (both parents) | 57 | 15 | 42 | x2(1) = 0.721, p = 0.396 |
| Singleton | 4 | 1 | 3 | |
| Duo (proband and one parent) | 17 | 3 | 14 | |
| Proband, one parent, sibling | 2 | 0 | 2 | |
| Inheritance patterns | ||||
| De novo | 10 | |||
| Autosomal recessive | 5 | |||
| Autosomal dominant | 2 | |||
| X-linked | 1 | |||
| Mitochondrial | 1 | |||
| Undetermined | 1 | |||
| Average # variants reported/case | 6.5 | 8 | ||
| Secondary findings | ||||
| Not requested | 2 | |||
| Total reported | 4 | 3 | 1 | |
| Subspecialty referral | Genetics vs. other: | |||
| Genetics | 47 (59%) | 11 | 36 | x2(1) = 0.008, p = 0.931 |
| Neurology | 22 (27.5) | 3 | 19 | |
| Cardiology | 6 (6.5%) | 3 | 3 | |
| Immunology | 2 (2.5%) | 1 | 1 | |
| Gastroenterology | 2 (2.5%) | 0 | 2 | |
| Perinatology | 1 (1.2%) | 1 | 0 | |