Elizabeth Swisher, M.D.: Thank You, Angelina Jolie

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Thank you, Angelina Jolie! Your confidence and courage is inspiring and will no doubt help thousands of women face the same difficult decisions. Knowledge is power, and understanding your genetic risk of cancer allowed you to take charge of your future and change your destiny. As a gynecologic oncologist and cancer genetics specialist, I am deeply saddened every time I take care of a woman fighting advanced ovarian cancer who is in that position because of a genetic risk inherited from her mother or father. Often there is a family history of cancer that should have alerted her medical providers to her cancer risk, which means that cancer could have been prevented. Wendy, Sharon, and Karen are just a few of my dear patients who died needlessly of hereditary ovarian cancer, and who inspire me every day to re-double my research and clinical efforts to identify genetic risk and prevent women's cancers. We aim to provide every woman the power exercised by Angelina -- to understand their personal cancer risk and make individual choices to minimize that risk.

Too many women have genetic testing only after a cancer is diagnosed. There are several reasons for that unfortunate delay. Not all women have a strong family history of cancer, even though they have an inherited risk. For example, some women have inherited their cancer risk from their dad, who is unlikely to have breast cancer and will certainly not get ovarian cancer. And even strong family histories of cancer may be overlooked by healthy women and their providers. The high cost of genetic testing for cancer risk is another obstacle. For instance, Medicare will only pay for cancer genetic testing after someone gets cancer, but not before. That policy is counterintuitive when the goal of cancer genetic testing should be identifying risk in order to allow effective cancer prevention. Most insurance companies will not cover BRCA1 or BRCA2 testing for men. President Obama, your mother died of ovarian cancer, and in my opinion, you should have testing to see if your girls could be at risk. But be prepared to pay cash.

You have probably heard about how much cheaper DNA sequencing has become in the last few years. We can already sequence all the human genes for a thousand dollars and articles abound that predict that whole genome DNA sequencing will become commonplace and facilitate personalized medicine. Then why is most cancer genetics testing done one gene at a time for many thousands of dollars? My colleague Mary-Claire King, Ph.D., who discovered the BRCA1 gene in 1990, has been working with me and others to develop cancer gene panels that in a single blood test can sequence all the known cancer genes. In my research, I have used Dr. King's new test that she named BROCA to find the genetic cause of ovarian cancer in dozens of families. We have discovered that BRCA1 and BRCA2 are not the only ovarian and breast cancer genes, and another 15 genes account for about 30 percent of inherited ovarian cancer. We could test all of these genes at the same time in a single blood test including BRCA1 and BRCA2 at less than the current cost of the BRCA gene test in the U.S.

You might ask: If we can already do this type of genetic testing in a research setting, what is holding back a universal cancer gene test for patients? The barrier is gene patents. Thousands of human genes are patented in the U.S., including BRCA1 and BRCA2. If Dr. King had won the race to publish the final BRCA1 sequence, I guarantee you that BRCA1 would not be patented today. The U.S. Supreme court has recently heard arguments from a lawsuit by the ACLU against Myriad Genetics, the company that holds the BRCA1 and BRCA2 patents. The court should rule next month on the legitimacy of these gene patents. We already have the genetic tools to identify many women who are at risk before they get cancer and at a lower cost. Let's hope that we can soon apply these tools rationally during clinical care to decrease the cancer burden in this country.

What can you do?

-- Know your own family history. Ask your parents and grandparents about your family history, ask who had cancer, what kind of cancer (e.g., where the cancer started, not where it spread to) and at what age they were diagnosed. Share that information with your medical providers. If you are concerned about your cancer risk, ask for a referral to see a certified genetic counselor to talk about your family history.

-- Protest the patenting of genes. Even if the Supreme Court does come out against the Myriad patents, it is likely to be a narrow ruling that will not apply to all gene patents. Join me in standing against patents of natural genes. Investigators that accept federal dollars for research should keep their discoveries in the public domain.

-- Support medical research that increases our understanding of cancer, including how to recognize risk and tailor cancer prevention. Ask your congressman to support federally-sponsored research such as the NIH and consider raising money and awareness for private cancer research foundations.

Let's applaud Angelina Jolie. Dealing with cancer risk involves highly-personal decisions. Here is a woman already in the public eye and under constant scrutiny who made an entirely selfless decision to share her story with millions. Many high-risk women like Angelina face criticism for their "drastic" choices to undergo preventive surgery. I admire Angelina for taking the unselfish view that she will do whatever it takes to be sure she will be around to parent her children. And I commend Angelina for making her decision public and thereby supporting other women who face an increased cancer risk.

For more on breast cancer, click here.

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Source: http://www.huffingtonpost.com/elizabeth-swisher-md-/angelina-jolie-double-mastectomy-_b_3292941.html

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