Table 1.
Example codes and subcodes from the consensus codebook.
Domain | Codes | Example quotes/sub-codes |
---|---|---|
Cascade genetic testing | No purpose documented | We discussed that first degree family members (children, full siblings, parents) have a 50% (1 in 2) likelihood of also carrying the BRCA2 mutation. Predictive genetic testing would be indicated for at-risk family members |
Purpose: To determine variant’s inheritance pattern | We discussed that it is unknown whether the CHEK2 mutation was maternally or paternally inherited. Specific site testing should be considered for [patient's] maternal relatives as neither of her parents are available for testing. | |
Purpose: To inform individualized screening recommendations | It was discussed that for anyone who tests negative for a familial mutation they would not be at increased risk for Lynch syndrome and would not have to undergo Lynch syndrome screening recommendations. | |
Purpose: For early detection of cancer | [Patient's] maternal family would be at increased risk for breast and ovarian cancer and should undergo genetic testing and any subsequent cancer prevention that would be indicated | |
Specificity of familial risk messaging | Identifies specific relatives for genetic testing | We reviewed that it would be important to share her genetic test results with her full siblings and maternal half siblings |
Provides generic description for family testing | We discussed that first degree family members have a 50% (1 in 2) likelihood of also carrying the BRCA1 mutation. Therefore close family members should consider genetic counseling and predictive genetic testing | |
Assessment of family dynamics | Negative communication | … however, the patient reports that she is not in contact with her mother and suspects her mother would not pursue genetic testing |
Positive communication | Patient seemed motivated to share these results with her family members | |
Barriers to cascade testing | Estranged relatives, deceased or underage relatives, uninterested in testing, cost/insurance concerns, etc. | |
Strategies used to encourage cascade genetic testing | Specifies purpose and intended recipient of genetic test report | Family members wishing to undergo predictive genetic testing would need to have a copy of [patient’s] results because the information contained on this report would allow their healthcare providers to order the appropriate site-specific and therefore significantly less expensive genetic test. |
Specifies purpose and intended recipient of family letter | I mailed to them our family letter that briefly describes the implications of the genetic test results for family members, and encouraged them to distribute the family letter along with a copy of the results to at risk relatives | |
Mentions lower cost of targeted testing | Since this specific mutation has been identified in [patient’s] family, the cost of the testing should be less than 500 dollars per person | |
Offers logistical genetic counseling assistance | I have recommended that he pursue genetic testing through UT Tyler. There is a nurse practitioner there who provides genetic counseling and testing services. I encouraged [patient's] son to contact them to set up an appointment. | |
Relational manner used to encourage family communication | Covert | Therefore family members such as their children may wish to consider predictive genetic testing. |
Overt | I did recommend that patient also share the information from the genetic test results with her half-sister and with the children of her half-brother | |
Authoritative | N/A |