Table 1.
Participant and child characteristics for the total sample and by study arm
| Participant characteristic, N (%) |
Total sample (n = 551) |
Standard of care (n = 281) |
GUÍA (n = 270) |
p valuea |
|---|---|---|---|---|
| Age (mean, SD, range)b | 41.1 (9.1) 20.9–81.5 |
41.3 (8.8) 20.9–69.3 |
40.9 (9.3) 23.2–81.5 |
0.64 |
| Relationship to child | ||||
| Mother | 488 (88.6) | 249 (88.6) | 239 (88.9) | 1.00 |
| Father | 43 (7.8) | 22 (7.8) | 21 (7.8) | |
| Legal Guardian | 20 (3.6) | 10 (3.6) | 10 (3.3) | |
| Health system | ||||
| Mount Sinai Health System | 364 (66.1) | 185 (65.8) | 179 (66.3) | 0.90 |
| Montefiore Medical Center | 187 (33.9) | 96 (34.2) | 91 (33.7) | |
| Previous genetics testing | 222 (40.3) | 117 (41.6) | 105 (38.9) | 0.23d |
| Population groups (N=531)c | ||||
| American Indian/Native American/Alaska Native | 2 (0.4) | 2 (0.7) | 0 (0.0) | 0.60e |
| Asian | 38 (7.2) | 18 (6.6) | 20 (7.7) | |
| Black/African American | 84 (15.8) | 40 (14.8) | 44 (16.9) | |
| Hispanic/Latino(a) | 246 (46.3) | 132 (48.7) | 114 (43.8) | |
| Middle Eastern/North African/Mediterranean | 8 (1.5) | 3 (1.1) | 5 (1.9) | |
| White/European American | 130 (24.5) | 66 (24.4) | 64 (24.6) | |
| More than one population | 7 (1.3) | 3 (1.1) | 4 (1.5) | |
| Other | 4 (0.7) | 1 (0.4) | 3 (1.2) | |
| Prefer not to answer | 6 (1.1) | 5 (1.8) | 1 (0.4) | |
| Unknown/None of these fully describe me | 6 (1.1) | 1 (0.4) | 5 (1.9) | |
| Survey conducted in Spanish | 121 (22.0) | 64 (22.8) | 57 (21.1) | 0.64 |
| Interpreter present at result disclosure | 107 (19.4) | 56 (19.9) | 51 (18.9) | 0.76 |
| Mode of result disclosure | ||||
| In person | 155 (28.1) | 80 (28.5) | 75 (27.8) | 0.93 |
| Telehealth | 396 (71.9) | 201 (71.5) | 195 (72.2) | |
| Education level (N=549) | ||||
| < High school graduate | 100 (18.2) | 59 (21.2) | 41 (15.2) | 0.26 |
| HS grad, GED, technical school, associate degree | 242 (44.1) | 114 (40.9) | 128 (47.1) | |
| College graduate | 114 (20.8) | 58 (20.8) | 56 (20.7) | |
| >College graduate | 93 (16.9) | 48 (17.2) | 45 (16.7) | |
| Public insurance (Medicaid) | 357 (64.8) | 187 (65.6) | 170 (63.0) | 0.38 |
| MUA (residence in a HRSA defined “medically underserved area”) | 297 (53.9) | 155 (55.2) | 142 (52.6) | 0.55 |
| 200% below NYC federal poverty levelf | ||||
| No | 258 (46.8) | 133 (47.3) | 125 (46.3) | 0.70 |
| Yes | 230 (41.8) | 119 (42.4) | 111 (41.1) | |
| Brief health literacy score | ||||
| Inadequate | 88 (16.0) | 53 (18.9) | 35 (13.0) | 0.16 |
| Marginal | 112 (20.3) | 54 (19.2) | 58 (21.5) | |
| Adequate | 351 (63.7) | 174 (61.9) | 177 (65.5) | |
| Child characteristic, N (%) | ||||
| Age in years (mean, SD, range) | 9.7 (5.8) 0.1–22.0 |
9.7 (5.7) 0.1–22.0 |
9.8 (5.8) 0.3–21.8 |
0.97 |
| Sex assigned at birth | ||||
| Female | 202 (36.7) | 102 (36.3) | 100 (37.0) | 0.86 |
| Male | 349 (63.3) | 179 (63.7) | 170 (63.0) | |
| Primary phenotype | ||||
| Cardiac | 21 (3.8) | 14 (5.0) | 7 (2.6) | 0.34 |
| Immunologic | 29 (5.3) | 15 (5.3) | 14 (5.2) | |
| Neurologic | 501 (90.9) | 252 (89.7) | 249 (92.2) | |
| Neurologic phenotype category | ||||
| Epilepsy | 149 (29.7) | 71 (28.2) | 78 (31.3) | 0.60 |
| IDD | 175 (34.9) | 93 (36.9) | 82 (32.9) | |
| Both IDD and epilepsy | 177 (35.3) | 88 (34.9) | 89 (35.7) | |
| Case-level interpretation of genetic test result | ||||
| Positive | 71 (12.9) | 42 (14.9) | 29 (10.7) | 0.003 |
| Likely positive | 20 (3.6) | 10 (3.6) | 10 (3.7) | |
| Uncertain | 317 (57.5) | 141 (50.2) | 176 (65.2) | |
| Negative | 143 (25.9) | 68 (31.3) | 55 (20.4) | |
SD, standard deviation; HS, high school; GED, general education development; MUAP, medically underserved area; HRSA, Health Resources & Services Administration; IDD, intellectual developmental disability.
p value: from t test for age of parent/legal guardian and from chi-square for the categorical covariates unless otherwise indicated.
Age: available for n = 280 in the SOC and n = 269 in the GUÍA arms.
Population group: collected race and ethnicity for biological parents only; n = 531 in the total sample, n = 271 in SOC and n = 260 in the GUÍA arms.
p value: from Fisher’s Exact Test.
p value from chi-square derived from the 3 largest population groups (Black/African American, Hispanic/Latino(a), White/European American).
Missing values for n = 63 due to lack of information on household size or accurate household income range.