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“She took the sealed envelope into the parking lot and into her car, and opened it alone. Positive. She was facing up to an 80 percent chance of developing breast cancer during her lifetime.“

Karen Aulner (by Tiffany Brown for The Washington Post)

In 2004, Karen Aulner lived this traumatic seen after deciding to have the testing for mutations of the BRCA genes associated with aggressive breast cancers.  Since that time, she has undergone a preventive double mastectomy, three breast reconstructions, and most recently had her ovaries removed all in the hopes of preventing breast cancer.  She was motivated, in part by her older sister’s battle with the disease which has included recurring tumors and ultimately metastatic disease.  This is all subsequent to a double mastectomy to treat the first tumor.  While the actions taken by Auluner to stave off cancer may be considered by many to be drastic, a study led by Dr. Todd Tuttle found that over a five-year period (1998-2005), the percentage of women with a tumor in one breast choosing bilateral mastectomy rose from 4.2% to 11% .

“Women who have had cancer in one breast and have a BRCA mutation… have a risk of 3 percent per year of developing cancer in the opposite breast…and the risk is cumulative,” Dr. Tuttle explains.

This Washington Post article intrigued me because it serves as an excellent case study for several issues.  It demonstrates the need for health and science literacy and a sense of self agency among all health consumers.

Genetic Testing
The identification of the BRCA1 and BRCA2 genes and their association with an increased risk for breast cancer has presented a whole new arena of challenging medical decisions for a person to make.  In the case of breast cancer the treatment options can be as radical as a bilateral mastectomy followed by reconstructive breast surgery.   In the case of genetic testing for Hunington’s Disease, for example, there are no treatment options or cures.   You must therefore decide if knowing would help you maximize your quality of life or would knowing that you would later develop such a catastrophic illness significantly decrease your quality of life.

Patient Autonomy and Advocacy
Taking an account of your personal values and your definition of quality of life are essential.  Genetic testing, like screening can provide you with more options for treating a disease or condition but unlike screening it may require you to make difficult medical decisions before the disease is imminent.  You may be choosing to take on some disease burden (since almost all treatments have side effects) before you would through a regular recommended schedule of screening.  Finding a physician who will respect and respond to your desires regarding therapy and treatment can become an issue.  Aulner, for example was unable to find any surgeons willing to perform a preventive mastectomy.  Ultimately she had to travel to another state to find that care from a source she located through her own research.  In contrast, you may choose a far more conservative course of treatment.  In the case of breast cancer, close surveillance with clinical breast examination, mammography and possibly breast magnetic resonance imaging or endocrine therapy with tamoxifen or aromatase inhibitors are all less radical but viable treatment options that significantly reduce the risk of recurring breast cancer.  It would be important to make sure that you question your physician until you thoroughly understand the benefits and the risk of each option.  Even if s/he disagrees with your choice of treatment, ethically s/he is obligated to respect what you have defined for yourself as quality care.

There are cases in which a physician cannot tell you what to do.  Ideally, they can counsel you on the benefits and the risks for diseases and their subsequent treatments.  As the pace of technology continues to increase and stressors in the health system persist, you must become evermore proactive (and assertive, when necessary) in obtaining all the information you require in order to make the best medical decisions for you.

Sources:

Tuttle T, Habermann E, Abraham A, Emory T, Virnig B. Contralateral prophylactic mastectomy for patients with unilateral breast cancer. Expert Rev Anticancer Ther. 2007 Aug;7(8):1117-22.

Saslow, Rachel. (2009, April 7) Removing the Doubt Women with cancer in one breast or not at all tell why they choose to have preventive double mastectomies. The Washington Post, pHEo1.

Image Source:
by Tiffany Brown for The Washington Post