Table 2.
Current reporting categories of genetic variants produced by whole-exome sequencing at UCLA
| Variant category | Reportable | |
|---|---|---|
| Children | Adults | |
| Variants in genes related to the condition of interest | ||
| All variants (including those of unknown clinical significance) in genes known to be associated with the condition of interest | Yes | Yes |
| Known variants in genes suspected to be causally related to the condition of interest | Yes | Yes |
| Incidental/secondary findings | ||
| Known variants in genes associated with predisposition to future disease for which treatment/prevention is available (e.g., MSH2 for Lynch syndrome and BRCA1 for breast cancer) | Yesa | Yes |
| Variants indicating significant potential for coexisting condition for which treatment/prevention is available (e.g., ATP7B for Wilson’s disease) | Yes | Yes |
| Variants in high-penetrance genes associated with predisposition to future disease with no effective treatment or prevention (e.g., ATXN1 for spinocerebellar ataxia) | No | Yes |
| Variants indicating carrier status for autosomal recessive or X-linked conditionsb | No | Yes |
| Variants for which association or relative risk for future disease is low or unknown | No | No |
| Nonpaternityc | No | No |
a
Only in cases where treatment/prevention in childhood is recommended.
b
Especially those for which general screening is already recommended.
c
When parental DNA is tested in a trio analysis.