Skip to main content
. 2021 Jan 22;12(3):439–447. doi: 10.1007/s12687-021-00504-9

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