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BRAVE NEW WORLD - The Jolie Effect

By Dr. Rinehart on May 16, 2013


The reality is that few women or men have BRCA 1/2 mutations.  The actual frequency of BRCA 1 or 2 mutations in the general population is poorly defined, but has been estimated to be between 1.2% to 13% for the BRCA 1 mutations and 0.0% to 6.9% for the BRCA 2 mutation. Certain characteristics may make the risk of having a mutation higher such as belonging to certain ethnic groups, having a family history of certain types of cancer, or having a family member who has one of the mutations. The point is that BRCA 1 /2 mutations are infrequent. However, for those people at a higher risk of having a mutation, obtaining genetic testing may identify those people who actually do carry the mutation and allowing that person to make proactive decisions about their healthcare.


Recent advances in cryobiology can be of great help to people who face the decisions about how to manage their healthcare if they are indeed BRCA 1 /2 positive, whether male or female. One of the decisions can be to opt for fertility preservation procedures in order to help assure options for conception, particularly if the course of treatment involves removal of reproductive organs and/or chemotherapy which can adversely affect Fertility in women and men. 

Fertility preservation for males is rather simple in that semen specimens can be frozen and kept for years with a high chance of success utilizing assisted reproductive technologies. Until recently, options for women undergoing prophylactic removal of the ovaries, or dealing with the effects of chemotherapy, were limited. Now however, women with normal reproductive potential can opt to have eggs (oocytes) frozen and these can be kept for years. The success rates depend upon the age of the woman but for young women, a single retrieval of oocytes can produce live-birth rates that have been reported in some series to be as high as 60-70%.

The value of oocyte cryopreservation is for younger women who know they have the mutation and are considering prophylactic oophorectomy at some point in their life.  Freezing their eggs allows them to have the potential for having their own genetic children, even if at some point they chose to remove their ovaries. Furthermore, should they require removal of the uterus, the use of a gestational host adds to the potential for a women with a BRCA 1 /2 mutation to have her own genetic child while reducing her risk of developing ovarian or breast cancer.
Today, we have a brave new world that matches the best of medicine, science and technology that can be called upon in treating the ‘whole’ patient.  Fertility Preservation helps to preserve the options for creating a family, alongside the advancements that allow for an increase in the quantity and thus, the quality of our lives.

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