Table 1.
Participant characteristics and enrollment.
| Variable | Total cohort (n = 202)a | Control arm: SOC only (n = 100) | Intervention arm: SOC + cGS (n = 102)a | P valueb |
|---|---|---|---|---|
| Mean age, years (range) | 40 (2 months-81 years) | 42 (3 months-81 years) | 39 (2 months-78 years)c | 0.38 |
| Sex, n (%) | ||||
| Female | 110 (54%) | 52 (52%) | 57 (56%) | 0.58 |
| Male | 94 (46%) | 48 (48%) | 45 (44%) | |
| Race, n (%) | ||||
| White | 170(84%) | 86 (86%) | 84 (82%) | 0.96 |
| Asian | 6 (3%) | 3 (3%) | 3 (3%) | |
| Black or African American | 5 (2%) | 3 (3%) | 2 (2%) | |
| Unknown/not reported | 21 (10%) | 8 (8%) | 13 (13%) | |
| Ethnicity, n (%) | ||||
| NOT Hispanic/Latino | 172 (84%) | 87 (87%) | 83 (82%) | 0.67 |
| Hispanic/Latino | 7 (3%) | 3 (3%) | 4 (4%) | |
| Unknown/not reported | 25 (12%) | 10 (10%) | 15 (15%) | |
| Insurance, n (%) | ||||
| Private | 159 (78%) | 78 (78%) | 80 (78%) | 0.83 |
| Medicare | 41 (20%) | 19 (19%) | 21 (20%) | |
| Medicaid | 3 (1%) | 3 (3%) | 0 (0%) | |
| International | 1 (<1%) | 0 (0%) | 1 (1%) | |
| Clinic enrolled, n (% of total cohort) | ||||
| Cardiology | 69 (34%) | 35 (35%) | 34 (33%) | - |
| Medical Genetics | 60 (29%) | 29 (29%) | 29 (29%) | - |
| GI Cancer | 26 (13%) | 12 (12%) | 12 (13%) | - |
| Ataxia (Neurology) | 19 (9%) | 9 (9%) | 10 (10%) | - |
| Endocrine Tumor | 16 (8%) | 8 (8%) | 8 (8%) | - |
| Pulmonary | 14 (7%) | 7 (7%) | 7 (7%) | - |
| Human Phenotype Ontology (HPO) terms, n | ||||
| Average total | 6.14 | 6.16 | 6.11 | 0.85 |
| Primary indication | 3.67 | 3.76 | 3.57 | 0.66 |
| Nonprimary indication | 2.52 | 2.4 | 2.64 | 0.68 |
| Number of SOC genetic tests ordered, n (%) | ||||
| Average | 1.16 | 1.14 | 1.18 | 0.72 |
cGS clinical genome sequencing, GI gastrointestinal, SOC standard-of-care.
a
Two individuals enrolled and withdrew before randomization and two individuals withdrew after randomization; these individuals are not included in either in tervention arm of this table. Probands in a trio were randomized separately, but included in this table based on clinic of enrollment. Parents in a trio were not included in this table.
b
P value is for t-test comparing single values between the two study arms and analysis of variance (ANOVA) for comparing multiple values
c
Protocol deviation to enroll participant less than 3 months of age