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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Monday, April 15, 2013

Supreme Court hears arguments today on BRCA gene patents

Today is a big day for the HBOC community. It would be impossible to miss the news that the Supreme Court is hearing arguments today in the case known as The Association for Molecular Pathology v. Myriad Genetics, a case that has been winding its way through the court system for more than two years.

I awoke this morning to an excellent story by Nina Totenberg of NPR wherein she states that "There is no way to overstate the importance of this case." I agree. This case is not only of the utmost importance to those of us who have BRCA mutations but also to all aspects of the upcoming personalized medicine revolution, which Ms. Totenberg elucidated well in her piece in which she described the financial incentives and impacts of the decision for the biotech industry. I am troubled though that one very important aspect was not covered in this story, especially as today is Tax Day. Specifically, no mention was made about the fact that the government is a big sponsor of biomedical research and in fact spent millions on the hunt for the BRCA genes through the NIH and then the genes were patented by a private company and none of that public investment in discovery was repaid. The story focused on the dollars spent by Myriad on the search for the BRCA genes and why it deserves to protect this investment through the patent process. But what about the public dollars, my tax dollars and your tax dollars? Has everyone forgotten that Myriad was far from the only team of scientists racing to find these genes? Many of those teams of scientists in this country and other countries were financed at least in part with public money. Myriad just happened to be the first over the finish line. Had it been Dr. Mary Claire King, whose research sparked the all out race to find the specific genetic code for the Breast Cancer Genes then I have no doubt that we would not be paying $3,400 per test for a test that is less than comprehensive. For more information about this race to find the breast cancer gene please read Breakthrough: The Race to Find the Breast Cancer Gene by Kevin Davies and Michael White.  It is an excellent read and an exciting story but it makes very clear the amount of effort that went into this discovery by people other than those scientists at Myriad.

My friend Joanna Rudnick, the amazing BRCA-positive filmmaker who made "In the Family" about living with a BRCA mutation wrote an amazing Blog about her journey about about her thoughts on today's Supreme Court arguments.  Please read her blog and share it with your friends.  Also, in honor of the Supreme Court arguments, POV is making In the Family available for free streaming for a limited time.  If you have not yet seen it, now is the perfect opportunity.  And please share your thoughts.

As Nina Totenberg said, the implications of this case reach far beyond the breast cancer genes, yet those of us with mutations on those genes are possibly the ones watching this case most closely. The NPR story can be found here.


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