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What Angelina’s Genetic Testing and Surgeries mean to you?



In an op-ed titled My Medical Choice, Angelina Jolie discussed her decision to undergo a double mastectomy and reconstructive surgery as a risk aversion strategy. By sharing her story, in one stroke she removed some of the dogma generally associated with Breast Cancer. She also put the discussion of informed decision-making when it comes to health on the map. But is the right message reaching all? I believe not.

Many have been misled by sensationalistic and sometimes ill-informed media to believe her media is about mastectomy or genetic testing. The message of understanding your risks and making informed choices is lost in between.

In this post, we will review her choice with respect to the options that are available, why she made those choices, why someone else will have to make different choices and how to go about making them.

It is to be noted that we need hard facts to discuss her choice in the context of 99% of the women who have no more than average expected risk of cancer.

Angelina has a very rare mutation of BRCA 1. Mutations in BRCA (1 and 2) increase the risk of breast cancer by reducing the efficacy of BRCA to resist cancer. On the average risk of breast cancer in women with BRCA mutation is fivefold that of women with no mutation. Adding to her risk was the development of cancer in her mother and aunt (first degree and second-degree relatives respectively). Her mother developed ovarian cancer before the age of 50. This genetic history and familial pre-disposition put her risk of developing breast cancer at 87%.

Note the exact science of estimating risk is not well established, but it should be noted that even without putting a number to it, it could be termed as extremely high. This information has been nicely summarized in the following infographics by Ask Doctorspring

Make an informed decision - What you need to know about Anjelina


To put the risk faced by her in the context of the general population on the basis of research by Barbour S Warren, Ph.D., Cornell University Division of Nutritional Science, and Carol Devine, Ph.D., Extension Project Leader BCERF–

  1. Mutations in BRCA are present in far less than 1% of women but occur more often in some ethnic groups such as those of Eastern European descent. More than 90% of Jews in America belong to this group.
  2. Breast Cancers developing due to such high-risk mutations form 1% of all breast cancers.
  3. 75% of all breast cancers are not due to family pre-disposed risks but due to biological and environmental factors to which women are exposed.

Since BRCA is so uncommon US Preventive Services Task Force (USPTF) and the Center for Disease Control (CDC) have developed guidelines to indicate which women should be screened for the mutation. It is recommended that only women with a strong family history (about 2% of US women) be evaluated for genetic testing for BRCA mutations. In all the gaga about Angelina’s choice, Doctors expect unnecessary requests for genetic testing to grow much fold with this revelation by Jolie.