Table 2.
Participant characteristics by CSER study site
| CanSeq | ClinSeq® | Columbia | MedSeq | NCGENES | NEXT Medicine | PediSeq | |
|---|---|---|---|---|---|---|---|
| N=36 | N=426 | N=97 | N=99 | N=463 | N=141 | N=38 | |
| Age | |||||||
| Median | 58 | 57 | 47 | 56 | 33 | 55 | 37 |
| IQR | 51–63 | 53–61 | 38–58 | 48–63 | 9–53 | 44–61 | 32–40 |
| Range | 31–81 | 45–65 | 20–82 | 18–84 | 0–84 | 24–82 | 24–41 |
| Gender, % | |||||||
| Male | 44 | 53 | 30 | 47 | 40 | 47 | 61 |
| Female | 56 | 47 | 70 | 53 | 60 | 53 | 39 |
| Ethnicity, % | |||||||
| Non-Hispanic | 97 | 98 | 95 | 93 | 93 | 98 | 97 |
| Hispanic | 3 | 2 | 5 | 5 | 6 | 2 | 3 |
| Unknown | 0 | 0 | 0 | 2 | 1 | 0 | 0 |
| Race, % | |||||||
| White | 81 | 92 | 89 | 91 | 83 | 85 | 76 |
| Black | 8 | 1 | 3 | 3 | 12 | 0 | 5 |
| Other† | 6 | 5 | 4 | 4 | 1 | 15 | 13 |
| Unknown | 6 | 1 | 4 | 2 | 3 | 0 | 5 |
| Surrogate, %†† | |||||||
| No | 100 | 100 | 100 | 100 | 61 | 100 | 0 |
| Yes | 0 | 0 | 0 | 0 | 39 | 0 | 21 |
| Unknown or NA | 0 | 0 | 0 | 0 | 0 | 0 | 79 |
| Marital status, % | |||||||
| Married | 72 | 75 | 91 | 68 | 67 | 68 | 11 |
| Not married (adult) | 28 | 21 | 9 | 32 | 33 | 32 | 11 |
| Unknown or NA | 0 | 4 | 0 | 0 | 0 | 0 | 79 |
| Education, % | |||||||
| High school or less | 17 | 4 | 8 | 6 | 18 | 16 | 8 |
| Some college | 22 | 6 | 20 | 10 | 40 | 22 | 5 |
| College degree | 25 | 26 | 31 | 33 | 25 | 39 | 5 |
| More than college | 33 | 60 | 41 | 51 | 16 | 23 | 3 |
| Unknown | 3 | 3 | 0 | 0 | 0 | 0 | 79 |
| Sequencing, % | |||||||
| Germline only | 0 | 100 | 100 | 100 | 100 | 96 | 100 |
| Germline + somatic | 100 | 0 | 0 | 0 | 0 | 4 | 0 |
| Return of any result, % | |||||||
| No | 0 | 15 | 0 | 0 | 58 | 25 | 16 |
| Yes | 100 | 85 | 100 | 100 | 42 | 75 | 84 |
| Return of secondary findings, % | |||||||
| No | 83 | 15 | 0 | 0 | 91 | 30 | 34 |
| Yes | 17 | 85 | 100 | 100 | 9 | 70 | 66 |
| Diagnostic category, % | |||||||
| Healthy individuals | -- | 80 | 100 | 51 | -- | -- | -- |
| Cardiovascular disease | -- | 20 | -- | 49 | 9 | -- | 26 |
| DD/ID* | -- | -- | -- | -- | 28 | -- | 16 |
| Hereditary cancer | -- | -- | -- | -- | 21 | 100 | -- |
| Neuromuscular | -- | -- | -- | -- | 20 | -- | 5 |
| Ophtho/retina | -- | -- | -- | -- | 8 | -- | -- |
| Cancer | 100 | -- | -- | -- | -- | -- | -- |
| Other | -- | -- | -- | -- | 13 | -- | 53 |
†
Other includes: Asian, n=26; Native American, n=3; and Multiracial, n=19
††
Surrogate = parent or guardian of pediatric patient providing survey responses
*
DD = Developmental delay; ID = Intellectual disability; Ophtho= Ophthalmology disorder