Table 3.
Molecular diagnostic yield by genetic test modality in 642 probands who underwent both targeted gene panel testing and genome sequencing in the NYCKidSeq study
| Positive/likely positive clinical interpretations | Targeted gene panel | Genome sequencing | P valuea | ||
|---|---|---|---|---|---|
|
| |||||
| No./total No. | % (95% CI) | No./total No. | % (95% CI) | ||
| All | 52/642 | 8.1 (6.2 – 10.5) | 106/642 | 16.5 (13.8 – 19.6) | <.001 |
|
| |||||
| Age group | |||||
| < 3 years (infants/toddlers) | 5/73 | 6.8 (3.0 – 15.1) | 21/73 | 28.8 (20.0 – 40.0) | <.001 |
| 3 to 12 years (preschool/school age children) | 32/331 | 9.7 (6.9 – 13.3) | 53/331 | 16.0 (12.5 – 20.3) | <.001 |
| > 12 years (adolescents/young adults) | 15/238 | 6.3 (3.9 – 10.1) | 32/238 | 13.4 (9.7 – 18.4) | <.001 |
|
| |||||
| Population category | |||||
| American Indian, Native American, or Alaska Native | 0/1 | 0 | 0/1 | 0 | NA |
| Asian | 1/35 | 2.9 (0.5 – 14.5) | 3/35 | 8.6 (3.0 – 22.4) | NA |
| Black or African American | 8/104 | 7.7 (3.9 – 14.4) | 12/104 | 11.5 (6.7 – 19.1) | .22 |
| Hispanic/Latino(a) | 31/326 | 9.5 (6.8 – 13.2) | 56/326 | 17.2 (13.5 – 21.6) | <.001 |
| Middle Eastern or North African/Mediterranean | 0/5 | 0 | 1/5 | 20.0 (3.6 – 62.4) | NA |
| White or European American | 10/126 | 7.9 (4.4 – 14.0) | 25/126 | 19.8 (13.8 – 27.7) | <.001 |
| More than one population selected | 1/27 | 3.7 (0.7 – 18.3) | 5/27 | 18.5 (8.2 – 36.7) | NA |
| Other | 0/4 | 0 | 1/4 | 25.0 (4.6 – 69.9) | NA |
| Prefer not to answer | 1/8 | 12.5 (2.2 – 47.1) | 2/8 | 25.0 (7.1 – 59.1) | NA |
| Unknown/none of these fully describe my child | 0/6 | 0 | 1/6 | 16.7 (3.0 – 56.4) | NA |
|
| |||||
| Previous genetic testing | |||||
| Yes | 21/191 | 11.0 (7.3 – 16.2) | 46/191 | 24.1 (18.6 – 30.6) | <.001 |
| No | 31/451 | 6.9 (4.9 – 9.6) | 60/451 | 13.3 (10.5 – 16.8) | <.001 |
|
| |||||
| Primary phenotype | |||||
| Cardiac | 6/33 | 18.2 (8.6 – 34.4) | 9/33 | 27.3 (15.1 – 44.2) | NA |
| Immunologic | 3/38 | 7.9 (2.7 – 20.8) | 6/38 | 15.8 (7.4 – 30.4) | NA |
| Neurologic | 43/571 | 7.5 (5.6 – 10.0) | 91/571 | 15.9 (13.2 – 19.2) | <.001 |
|
| |||||
| Neurologic phenotype category | |||||
| Epilepsy | 10/172 | 5.8 (3.2 – 10.4) | 13/172 | 7.6 (4.5 – 12.5) | .45 |
| Epilepsy and intellectual developmental disability | 14/205 | 6.8 (4.1 – 11.1) | 36/205 | 17.6 (13.0 – 23.4) | <.001 |
| Intellectual developmental disability | 19/194 | 9.8 (6.4 – 14.8) | 42/194 | 21.6 (16.4 – 28.0) | <.001 |
a
Statistical analyses were performed using McNemar’s test for groups with a minimum sample size of N = 45.