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."
~Amy

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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Thursday, June 13, 2013

Breaking News!!! Supreme Court Invalidates Patents on BRCA Genes!

Today the United States Supreme Court made history when it unanimously ruled that the Myriad Genetics’ patents on the BRCA1 and BRCA2 genes were invalid.

Specifically, the court ruled:
“It is undisputed that Myriad did not create or alter any of the genetic information encoded in the BRCA1 and BRCA2 genes. The location and order of the nucleotides existed in nature before Myriad found them. Nor did Myriad create or alter the genetic structure of DNA.”
The Court acknowledged the work done by Myriad in locating the BRCA genetic sequence among the tens of thousands of nucleotides on each chromosome but held:
“In this case … Myriad did not create anything. To be sure, it found an important and useful gene, but separating that gene from its surrounding genetic material is not an act of invention.”
So what does this mean?

  • It paves the way for other companies to test for mutations on these genes and in fact companies have already stepped forward to offer BRCA testing.
  • Patients will now have the opportunity for patients to get a second opinion to confirm their genetic test results prior to making life altering preventive surgery decisions.
  • More women (and men) will have access to potentially life-saving genetic information because competition should lower the cost of these genetic tests
  • No single company will be able to prevent others from conducting testing and research on the BRCA genes.


What does this decision mean for personalized medicine more broadly? This decision is a watershed moment with implications that reach far beyond the BRCA genes because approximately 25 percent of the humane genome has been patented. Several thousand companies currently own different slices of DNA and all of those patents have been invalidated by the Court’s decision.

The personalized medicine revolution is no longer being held hostage by the patent system.

Should you have questions about genetic testing, consult your genetic counselor and FORCE.



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Thursday, May 16, 2013

Angelina Jolie’s Mastectomies: What All Women Need to Know

In light of Angelina Jolie’s announcement that she underwent a double mastectomy to prevent breast cancer, Books for Better Living asked Joi Morris, a woman who went through a similar ordeal, to share what every woman needs to know about hereditary breast and ovarian cancer risk.  The following article appears on the Books for Better Living website.


Angelina Jolie has made a career of playing strong women in film. By revealing that she had undergone preventive mastectomies to reduce her breast cancer risk arising from an inherited BRCA1 mutation, she is showing her mettle in real life. She wrote:

“I hope that other women can benefit from my experience. Cancer is still a word that strikes fear into people’s hearts, producing a deep sense of powerlessness. But today it is possible to find out through a blood test whether you are highly susceptible to breast and ovarian cancer, and then take action.”

Jolie, who is 37 years old, is fortunate to have access to the best medical care available. She could make the many decisions required with the best information available on her cancer risks. I too faced these decisions after learning of my BRCA2 mutation. I too was fortunate to have access to excellent health care and the support of a loving husband. But the choices are nonetheless daunting and emotionally fraught and far from simple or straightforward.

When to Seek Genetic Testing

The first decision is whether to seek genetic testing. It is estimated that more than 750,000 people in the United States carry a mutation on either the BRCA1 or BRCA2 gene, with approximately 90% of them not aware they are at risk. Jolie could act to protect her health because she knew her BRCA1 status. I took the test because my doctor recognized that my family medical history suggested a risk for a BRCA mutation. My mother is a breast cancer survivor who was diagnosed at the age of 43, one warning sign of a BRCA mutation.

Should you consider genetic testing? Not everyone should be tested, but if you answer yes to any of these questions, then you should seek out a genetics professional to discuss your family history and the appropriateness of genetic testing:  Read more



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Tuesday, May 14, 2013

Angelina Jolie's mastectomies affirm that knowledge is power

I awoke today to dozens of emails from friends and family sending me links to Angelina Jolie's New York Times article about her decision to undergo preventive mastectomies because she is BRCA1 positive. This is indeed big news, mostly for Angelina Jolie and her family, but also for all of us who are part of the big "BRCA family." Those of us who have made the same life changing decision to undergo preventive mastectomies without a cancer diagnosis all identify with Jolie's decision.
"I wanted to write this to tell other women that the decision to have a mastectomy was not easy. But it is one I am very happy that I made. My chances of developing breast cancer have dropped from 87 percent to under 5 percent. I can tell my children that they don’t need to fear they will lose me to breast cancer." ~ Angelina Jolie
This reflects my experience exactly.  The decision to have preventive mastectomies is difficult and emotionally painful.  The decision was hard for me, as it was for Jolie and as it is for every woman who faces it.  Like Jolie, I kept the decision private until after the surgery, mostly to protect my young children.  I didn't want people asking me about surgery in front of them as I thought this might prove scary or upsetting.  After the surgery, I was happy to speak openly about my decision and the process.

At the time I made my decision to have preventive mastectomies in 2007, no celebrities had publicly discussed having a BRCA mutation or electing preventive mastectomies.  Had Angelina Jolie been a role model for me at that time it would have made a difference.  And I anticipate that it will make a difference to thousands of women now who are facing decisions about genetic testing and about protecting their health if they are BRCA positive.  At the time I tested positive for a BRCA2 mutation in 2006, the only other person I knew with a BRCA mutation was my mother, who had survived breast cancer.

Fortunately for me, I found FORCE: Facing Our Risk of Cancer Empowered, the national nonprofit dedicated to fighting hereditary breast and ovarian cancer through support, education, advocacy and research.  Through FORCE I met other BRCA-positive young women who had already made the decision to have preventive surgery.  Being able to talk to these women, to hear their stories, to ask them the questions that I could not ask my doctors--such as how they coped emotionally and how did surgery affect their sex life--was a turning point in my thinking. To see these young women, near my age or younger, who looked good and were happy with their decisions to have surgery, made what I had thought was an almost impossible decision seem reasonable.   Meeting them and seeing their reconstructed breasts was the key to my being able to make the decision to pursue prophylactic surgery.

It is has been more than six years since my preventive mastectomies.  In that time I have written a book to help other BRCA-positive women navigate the difficult decision-making process: Positive Results: Making the Best Decisions When You're at High Risk for Breast or Ovarian Cancer.  I have been a volunteer for FORCE to provide education and support for other women making these decisions.  I am an Advocate in Science for Susan G. Komen for the Cure because I think the only way for better options to be available is to participate in the research process.  And I have joined the Board of FORCE because I believe that of all the breast cancer groups out there it is the one making the biggest difference in the lives of women like me.

What is FORCE doing?  Here is a short sampling of the dozens of programs and initiatives in which FORCE is involved:
  • FORCE is involved in advocating for women who are precluded from getting genetic testing because of Myriad's patent on the BRCA1 and BRCA2 genes.  FORCE presented testimony to the United State Patent and Trademark office on the impact gene patents on the hereditary cancer community and filed a brief with the United States Supreme Court seeking to have the patents overturned.
  • FORCE is involved in advocating for genetic testing to be included in all health care coverage under the new Affordable Care Act for all women and men who need it.  
  • FORCE is involved in advocating for expedited research and development of drugs for women currently fighting hereditary breast or ovarian cancer.
  • Find out more about what FORCE is doing here and here.

I wish Angelina Jolie well.  I am thrilled that her husband, Brad Pitt, is supportive.  She has made a life-affirming decision both in proceeding with the surgery and in being public about it.  If you or someone you love is facing the same decision, know that you are not alone.  FORCE has volunteers who will talk with you any time.  Just contact the helpline.  And if you need answers to your questions, start with Positive Results: Making the Best Decisions When You're at High Risk for Breast or Ovarian Cancer.



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