Table 3.
Results types returned by site
| Result Types | ||||
|---|---|---|---|---|
| CSER Site | Diagnostic | Secondary | Carriera | PGx |
| Baylor College of Medicine | P, LP, VUS | P, LP | Yes | Yes |
| Brigham and Women’s Hospital | P, LP, VUS-Favor pathogenic | P, LP, VUS-Favor pathogenic, common complex for cardiometabolic traits | Yes | Yes |
| Columbia University Medical Center | NA | P, LP | Yes | Yes |
| Children’s Hospital of Philadelphia | P, LP,VUS | P, LP | Yes | No |
| Dana-Farber Cancer Institute | P, LP, VUS | P, LP | Yes | No |
| Hudson Alpha | P, LP, VUS | P, LP | Yes | No |
| Kaiser Permanente | N/A | P | Yes | No |
| University of North Carolina | P, LP, VUS | P, LP | Subset of adult participants | Subset of adult participants |
| University of Washington | P, LP, VUS | P | Yes | Yes |
| National Human Genome Research Institute | P, LP | P, LP, VUS | Yes | Yes |
Abbreviations: CSER clinical sequencing exploratory research, P pathogenic, LP likely pathogenic, VUS variant of uncertain significance, PGx pharmacogenetics, NA not applicable
aNumber of recessive conditions tested for by site varied