One day, Heather is riding home from work on the subway when she notices an advertisement. "Are you ready to fight disease before it starts?" The ad encourages her to learn more about the BRACAnalysis test for the BRCA1 and 2 gene mutations that indicate a woman's increased risk of developing breast and ovarian cancer. Heather is 22 years old and has a family history of breast cancer. The ad strikes a nerve and raises new questions. Can this genetic test really help her fight disease? Should Heather consider it? Will it let her know, once and for all, what her risk is of getting breast cancer -- and how to deal with it?
Many of us have seen advertising like this in subways, magazines, and online. But this week, an article in JAMA by lead author Mary-Claire King, a geneticist at the University of Washington who discovered the BRCA1 gene, is now recommending that all women over 30 be tested for the full spectrum of BRCA mutations. King's rationale for expanding the genetics testing net comes from new research that points to the high percentage, around 50 percent, of women diagnosed with hereditary breast cancer that had no family history of cancer. Under the current medical protocols for genetic testing, these women would not be eligible for testing since they do not have a high family history of cancer.
Dr. King seeks to stem the tide of what she sees as the failure of our health care system to prevent cancer before it strikes, especially given that recent research findings reveal that BRCA-positive mutation women who go on to have preventative surgery can significantly reduce their risk of dying.
While some of Dr. King's critics, such as Joy Larsen Haidle, president-elect of the National Society of Genetic Counselors, think women may not be ready for this type of recommendation, Dr. King would counter this claim by noting genetic knowledge gives women the power to control their genetic destiny.
So, who would not agree with Dr. King's rationale for testing all women 30 and over?
Before answering this question I would like you to mull it over with me for at least a few minutes by following me on a short research journey I just completed that may shed some light onto what at first may seem like a simple "yes" answer to Dr. King's question.
In my own research into the lived experience of women who test positive for the BRCA genetic mutation, I interviewed and surveyed a range of women in order to delve into their motivations for getting tested and their post-testing medical decisions. I listened deeply to women's narratives regarding the impact a BRCA-positive mutation diagnosis has had on their lives and those within their family.
By listening to women's lived experiences with the BRCA mutation it became clear that Dr. King's screening initiative leaves out an understanding of the human context within which BRCA testing takes place and the fallout that often occurs once women, many of whom have no history of cancer in their families, suddenly find out they have hereditary breast and/or ovarian cancer that places them and others in their family at high cancer risk.
Much of the research literature on medical decision-making assumes that women who test positive for the BRCA genetic mutation will follow a specific decision-making protocol that assumes women will adhere to their care providers' expert knowledge and decide on a course of action based on a self-described rational medical decision-making model. Medical personnel surmise that once women know about their risk, they can then be "managed" and they should "comply" with their recommendations. Instead women feel as if they are being "managed" and find such a protocol does not fit their own decision-making style that often bears little resemblance to a strict medical model.
So even though the new screening initiative recommends that women 30 and over get tested, one important consideration that women in my study take into account in their decision to get tested is their feeling "ready" to do so. While women understand the value of getting tested and for the most part they agree with the idea that genetic testing can give you the power and knowledge needed to fight cancer before it strikes, they also tell me that that they when they are "not ready" and forge ahead with genetic testing, they often lose the control they need to feel empowered in their BRCA-journey. Understanding each woman's sense of "being ready" is critical to the success of this type of screening effort.
It's also important to understand that any given woman's BRCA-positive mutation result especially impacts those in her family who are tied to her by blood. Are they "ready," to hear this news? What the women my study relate to me too, is that sometimes their test result news can break up a family; it can create havoc in their personal lives, as well as bring families together. It depends.
So how do BRCA-positive carriers become empowered in their BRCA-journey?
For some women in my study who have a high cancer history in their families, gaining control and power over their hereditary risk is accomplished by using their family's cancer narrative as a guide as to when to get tested, and when and if they will seek preventative surgery. Very often it is a mother's cancer narrative that is used as a guide for when a woman decides to get tested and when to have preventative surgery. So, for example, if one's mother had breast cancer or died from breast and/or ovarian cancer, a woman will use her mother's cancer clock -- what age her mother got tested, had cancer or died from cancer -- to make crucial medical treatment decisions. Women in my study also take some comfort and gain some control over their cancer risk by knowing they have this type of guidance and often provides them a feeling of being in control of their own cancer clock. Such knowledge is also a critical element to their feeling empowered in their BRCA-journey.
For many of the women in my study getting tested means they have already made the decision to have surgery. Many women with a high history of breast and or ovarian cancer in fact put off getting tested even though they tell me they know they are have the BRCA-positive mutation. They do this because they want to buy some time before they get tested and have surgery. Some of the women in my study refer to this as a game of Russian roulette. In this instance waiting to get tested becomes an important strategy some women use to accomplish other life goals -- getting married, having children, and so on. In some sense their family cancer histories tell them how long they can wait before cancer comes.
For those women who have no cancer history in their family, hereditary cancer may strike before they are "ready" and these women especially need to feel in control over their medical decision-making process as they move forward in their cancer treatment and beyond.
In addition, it's important to understand that once women know they carry the BRCA-positive mutation, their perception of the gap between being positive for BRCA and having cancer is almost non-existent. One woman told me: "My breasts are ticking time bombs." Women use military terminology to describe their being "ambushed" by their BRCA-positive status, one that leaves may women driven by the fear of getting cancer right into preventative surgeries. They don't want to wait for cancer to come as they are convinced it will.
So, to get back to the question we started with: Should all women 30 and over be screened for hereditary breast and ovarian cancer?
My answer: It's complicated.
Opening Pandora's genetic testing box can save the lives of women with hereditary breast cancer, especially those women with little cancer histories. However, doing so comes with a range of caveats, critical issues and a big price tag. An important question that needs to be addressed more fully is whether or not the medical and healthcare professions are ready to carry out large scale screening of all women 30 and over. Whose responsibility is it to provide the information and support to women 30 and over whose lives and those of their families become upended by a BRCA-positive mutation result? Who will pay for the tests, the screening and preventative surgeries that will follow a BRCA-positive mutation result?
We know that there are false-positives and false-negative results that one can obtain during the genetics testing process. Yet we know very little about the incidence or prevalence of errors in genetic testing. Up until less than a year ago, the Myriad Corporation had cornered the U.S. market for genetic testing. If a woman wanted a second opinion, she would need to go back to the same testing site. There were no external checks and balances built into the genetic testing process. Up until most recently, the Food and Drug Administration (FDA) did very little to regulate the genetic testing industry for quality control. Is the FDA ready for a wide screening genetic testing initiative?
Is society ready for a full scale screening of Women 30 and over for hereditary cancer?
Sharlene Hesse-Biber is Professor Sociology at Boston College. Her new book, Waiting for Cancer to Come: Genetic Testing and Women's Medical Decision Making for Breast and Ovarian Cancer has just been published.