Monday, October 27, 2014

Ending the family legacy of breast cancer

This week CBS's 60 Minutes took an in depth view of PGD -- preimplantation genetic diagnosis -- in a segment called "Breeding Out Disease."  PGD is actually a technology that has been in use for several years and we discussed it in Positive Results. Use of  PGD though is becoming increasingly commonplace.  Where a few years ago the only couples considering this technology likely would have been those who needed assisted reproductive technology and who were considering IVF anyway, now couples who can conceive "the old fashioned way" are considering IVF and PGD to end their family cancer history.  After watching generation after generation of women battle breast cancer, ovarian cancer, or both, it is not surprising that today's empowered young women want to control the destiny of their children.  Increasing numbers of these women are saying "This cancer ends with me!"

Here is an excerpt from Positive Results that discusses PGD:

"This mutation ends with me.
I am NOT passing it on to my children."

Pre-implantation genetic diagnosis (PGD) is the newest technology available for prenatal diagnosis of genetic disorders. PGD involves micro-dissection of an embryo at the eight-to-sixteen-cell stage of development after in vitro fertilization (IVF). At this early stage, all the cells are undifferentiated—they each have the potential to grow into the placenta, amniotic membranes, or the complete fetus. One cell can be removed from the cell mass and tested for genetic diseases without any ill effect to the developing embryo. Embryos that are free of the genetic condition, such as a BRCA mutation, are then transferred to the uterus. A number of companies now offer PGD through networks of IVF centers throughout the United States. For couples who require IVF in order to conceive a baby, this is a reasonable option for additional peace of mind. If you are interested in PGD, ask your IVF provider if it has a relationship with a PGD testing lab. For those couples who can conceive the “old fashioned way,” using PGD would require IVF, including ovarian stimulation, harvesting of eggs through a procedure, artificial insemination, and then implantation.

What the 60 Minutes segment on PGD did not discuss is the true latest in reproductive technology: egg harvesting and freezing.  As women are delaying not only having children but also marriage in favor of careers, an increasing number of BRCA-positive women are facing a cruel dilemma:  doctors recommend that BRCA-positive women (especially BRCA1-positive women) remove their ovaries between the ages of 35 and 40 but many of these women find themselves approaching this deadline without a mate.  The solution many of these women seek is to preserve their future fertility by freezing eggs in advance of removing their ovaries.  If these women elect to keep their uterus, they can carry a baby to term even without their ovaries.  One woman I met recently had a toddler on her hip who was conceived in this way called her son her "miracle baby."  And she is not alone in choosing this route.  The next logical question is "Can I test my eggs to see if I might pass along my BRCA mutation to a child conceived from this egg?"  Although it is early days for this technology, which is most still done through studies, the answer appears to be yes, the egg can be tested prior to freezing and storage.  Perhaps 60 Minutes will discuss this in it's next segment.

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Wednesday, October 1, 2014

Happy Previvor Day!

This year National Previvor Day coincides with the first day of Breast Cancer Awareness Month just in time to reinforce the message that women who are at high risk for breast cancer need to be aware of their risk in order to have effective options for preventing disease and/or for detecting it at its earliest and most curable stage.  Do you know if you are at genetic risk for breast or ovarian cancer?  For more information visit FORCE: Facing Our Risk of Cancer Empowered and read Positive Results: Making the Best Decisions When You're at High Risk for Breast or Ovarian Cancer!

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This work is licensed under a Creative Commons Attribution-NonCommercial 3.0 Unported License. Inquiries regarding rights should be directed to the authors.