BRCA1 and BRCA2 mutations are associated with greatly increased risks for breast and ovarian cancer; as well as moderately increased risk for prostate, melanoma, male breast, and pancreatic cancers.
What is Embryo Screening or Pre-implantation Genetic Diagnosis (PGD)?Pre-implantation Genetic Diagnosis (PGD) is a special form of in-vitro fertilization (IVF). This can be an option for individuals who carry a known genetic condition and wish to greatly decrease the chances of passing it on to a child. PGD is also known as "embryo screening" and is performed in a laboratory. This procedure is used in combination with IVF to test embryos (fertilized eggs) for a specific genetic mutation, such as a BRCA1 and BRCA2 gene mutation.
The testing is performed before transferring the embryo into the woman's womb. Only the embryos that test negative for the known mutation will be transferred. As the Wall Street Journal highlights, PGD for BRCA1 and BRCA2 and other diseases is a very personal decision and can be seen by many as controversial. Even the couple Rochman initially followed had different perspectives on using the technology.
BRCA Gene Mutation and ReproductionThe Basser Research Center for BRCA is actively researching the impact of BRCA1 and BRCA2 mutations on reproductive attitudes and behaviors. Basser researcher Clarisa R. Gracia, MD, MSCE is investigating the impact of carrying a BRCA mutation on fertility and reproductive decision-making.
“PGD is an option, so we tell patients about it,” says Rebecca Mueller, MS, CGC, CCRC, outreach coordinator for the Basser Center with a strong background in genetic counseling. “But it is a tentative conversation: We broach the topic, explain the option and let the patient take the lead. Some welcome the information and consider it an opportunity to end the pattern of cancer risk within their family. Others say that they or their kids may not be here had the testing been available and the conversation may end there.”
The Basser Research Center for BRCA aims to educate individuals who carry BRCA mutations about their options across the board. “Whether we are talking about genetic testing, cancer screening, prophylactic measures, treatment choices, or reproductive decisions, it is our goal to provide information and support to families facing BRCA” says Basser Center Director, Susan Domchek, MD.