Familial Considerations:

While the decision to pursue PGD is a personal one, your family may also need to consent and participate in genetic testing. To reduce the possibility of misdiagnosis during the testing of embryos (via PCR), it is necessary to obtain genetic information of multiple family members to identify both the specific mutation and pattern of BRCA 1/2 gene inheritance (linkage analysis). By conducting a careful analysis of the family’s mutation and inheritance pattern, a specific genetic test can be designed for the embryo. Having additional genetic markers that map near the BRCA 1/2 gene can increase the accuracy of testing. Sometimes during PCR not all genetic information is equally accessible (this is referred to as allele drop out). Performing linkage analysis with family members’ DNA can reduce the chance of misdiagnosis. You could ask parents, siblings, or children to provide DNA for linkage analysis. Linkage analysis is often performed for genetic mutations that are dominant like BRCA1/2, as even one mutated gene in the embryo can result in carrier status. Thus, comprehensive genetic information for both BRCA1/2 gene locations in the embryo improves PGD accuracy.

You may want to consider:

• Family members may have varying perspectives on the use of PGD for BRCA.
• What should be told to the child conceived through PGD?