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.
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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
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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
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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.
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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
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Authoritative |
N/A |