Table 2.
Summary of vignettes
| Vignette subject | Major theme | Communication challenges |
|---|---|---|
| 1. An African American patient with several variants in multiple genes |
Risk of VUS with panel tests; risk of VUS in non-Caucasian populations; risk of VUS misinterpretation; risk of ancillary findings in genes unrelated to the family history |
-Explaining VUS vs disease causing mutations -Race/ethnicity differences in VUS rates -Management of ancillary VUS in clinically relevant and non-relevant genes |
| 2. A patient with cancer and a single (heterozygous) mutation in the NBN gene |
Communicating risks of cancer in the carrier state for recessive gene mutations; testing of family members for recessive genes |
-Impact of heterozygous mutations on hereditary cancer risk and prevention -Approach to the family for testing for heterozygous mutations |
| 3. Genetic testing to guide treatment decisions for breast cancer discovers a mutation in the RAD51D gene |
Interpreting cancer risks for gene mutations unrelated to family history; interpreting cancer risks for clinically less studied genes |
-Interpreting genetic mutations in the context of clinical history -Management of mutations in genes with limited clinical information |