安吉丽娜·朱莉和个人化医疗：知情后决定的力量

Angelina Jolie and the Power of the Informed Decision

Hi. It's Dr. Kathy Miller from Indiana University, coming to you on May 14 to make certain that you did not miss the day's biggest news. I'm not referring to the IRS scandal or whether Congress will hold hearings about what really happened in Benghazi.

I want to make sure you saw the New York Times report by Angelina Jolie herself, disclosing that she inherited a deleterious mutation of BRCA1 and thus has an increased risk for breast and ovary cancer. She made the choice in February to undergo bilateral prophylactic mastectomy.

Now, make no mistake here: This is a report in the New York Times only because it is Angelina Jolie. Her genetic inheritance, the risks that it brings, and the choices that she faced -- increased surveillance, prevention, lifestyle changes that might decrease her risk, or prophylactic surgery -- were not at all different from the choices that all of our patients with BRCA abnormalities face. And her choice is her choice. It is the right choice for her, and we wish her well and good recovery and good health. But it doesn't inform the choices that our other patients should make.

It does remind us to identify patients with family histories of diagnoses at young ages and suggestive pathology to make certain that those patients are offered testing and the ability to have that genetic information if they choose. That genetic information is not what is frightening to patients; it is the unknown and the risk that is frightening. With information comes the power to make informed decisions and to envision a very different future for themselves than what they may have seen in their mothers, sisters, or other female relatives.

For bringing this information to light, we owe Angelina Jolie a great thank you. We wish her well and good recovery and good health. I'll be back again soon to talk to you about ASCO.

视频链接：http://www.medscape.com/viewarticle/804200?src=wnl_edit_specol&uac=188145AV


May 14, 2013, Is an Important Day for Genomic Medicine

May 14, 2013, will be remembered as an important day in genomic medicine. It was late in the evening [on May 13] when I came across, through Twitter, Angelina Jolie's op-ed called "My Medical Choice." In it, as was the big story of the next day: She had undergone a bilateral mastectomy because she had found that she had a pathogenic BRCA1 mutation. She had a family history of a mother with ovarian cancer. She decided to take charge, seize her own data, and get her BRCA1, BRCA2 sequenced, and indeed it showed that she had close to a 90% risk of developing breast cancer. Armed with that information, she made the call to have a significant surgical procedure.

Now, why is this so emblematic and important? There are several reasons. One is that we have an immensely public figure who has decided to tell her story for many others to take the lesson from what she has imparted. But it's bigger than that.

We're talking about true medical prevention through a surgical procedure. We're talking about the many other such mutations that we will discover in the times ahead that will be actionable like this. We're talking about what she particularly alluded to in her op-ed: that so many of us fear our own genetic information. We need to get over that, and in fact she certainly did get over it in making the call to have surgery, and even by getting her sequenced data for the BRCA1 and BRCA2 genes in the first place.

I think this is a really important event, even though we've known that prophylactic mastectomies are useful in women who have pathogenic BRCA mutations. It takes something like this, someone of this prominence, to tell her story and to try to teach many others -- not just those affected with BRCA1 and BRCA2 mutations -- to be armed with genomic information.

The most important thing, I think, is the title of her op-ed: "My Medical Choice." This is about true empowerment, taking control, the decision to get genomic data, and what to do about it once you get it. That was all her call. That, I think, is representative of the future of medicine.

I'll be really interested in your views. Thanks for tuning in to Medscape on this really interesting and important story about where the future of medicine can go with genomic data.

视频链接：http://www.medscape.com/viewarticle/804269?src=wnl_edit_specol&uac=188145AV