ICARE Newsletter Winter 2019

Ask the Expert

The following question was addressed by Georgia Wiesner, MD, MS, a nationally renowned clinical cancer geneticist, who is an Ingram Professor of Cancer Research, Professor of Medicine in the Division of Genetic Medicine, and the Director of the Clinical and Translational Hereditary Cancer Program for the Vanderbilt-Ingram Cancer Center in Nashville, Tennessee.

Q. What are the reproductive options for people with a BRCA mutation who do not want to pass their mutation on to their future children?

A. It is important to realize that pregnancy can be achieved without worry about passing on a gene mutation to future

generations. There are several options for couples, including adoption, gamete (egg or sperm) donation, and preimplantation genetic diagnosis (PGD) with in vitro fertilization (IVF). PGD begins with the normal process of IVF including egg retrieval and fertilization of the egg in a laboratory. When the fertilized egg (or “embryo”) reaches the 8-cell stage, one cell is removed to test it for the familial mutation. Then, embryos without the mutation can be selectively implanted using standard IVF procedures. However, the process of PGD with IVF requires confirmation prior to any procedure so that the lab can unambiguously detect the familial mutation. It can also be costly and may not be covered by insurance and involves invasive procedures. Therefore, couples considering PGD should be counseled by an experienced provider prior to any attempts to achieve a pregnancy. This process may also be relevant to individuals with other inherited gene mutations.