Table 1. Overview of hereditary cancer risk assessment.
| Average risk | High | Moderate/intermediate | Low/near-population |
|---|---|---|---|
| Personal/ family history | Mendelian syndromes | Familial aggregation | Sporadic |
| Genetic testing | Single gene sequencing*/ NGS panels*/ WGS/ WES | NGS panels/ WGS/ WES | DTC&/ WGS/ SNP genotyping |
| Genetic counseling | Mandatory | Advisable | Available |
| Management | Evidence-based* | Individual-based1 | Not validated |
DTC: direct-to-consumer tests; WGS: whole-genome sequencing; WES: whole-exome sequencing.
1
Some evidence-based screening recommendations exist for breast and colorectal cancers.
&
Restricted by the US Food and Drug Administration.