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Thursday, August 29, 2013

Is Genetic Testing Right For You?

Kimberly Field-Springer, PhD
Assistant Professor
Department of Communication Studies

Recently Angelina Jolie, actress, director, writer, winner of an Academy Award, and 3 Golden Globes, shared her personal medical decisions about genetic testing for a breast cancer gene, BRCA1, mutation in an op-ed piece published by The New York Times. Jolie, known for playing fierce roles, including the vigilante, Lara Croft in Tomb Raider and CIA operative, Evelyn Salt in Salt, opened about her risks of developing breast and ovarian cancer. Jolie’s mother died of cancer at the age of 56. And when Jolie’s children asked her what happened to “Mommy’s, mommy,” Jolie had difficulty talking about the disease that took her mom’s life.1 These conversations led the nation to discuss decisions we make based from the role of genetic testing in identifying breast and ovarian cancer risk factors, diagnosis, and treatment options.

But is genetic testing right for everyone? First and foremost, genetic testing is a personal choice; therefore, there is no clear answer to this question. Yet, we tend to under- and over-estimate our susceptibility to certain risks. We live in a risk society where we are constantly bombarded with new information suggesting that we can calculate risks about the possibility of developing certain diseases. Some of us who are at high risk may decide not to undergo genetic testing for fear of receiving undesirable results. Others of us may decide to undergo genetic testing precipitated by fear that is unwarranted. When we receive results from genetic testing, we then must make sense of this information. Yet, in reality, the decision to act on this information introduces new risks into our situation that affects us personally as well as our close loved ones. And we tend to take for granted the psychological, physiological, and emotional aspects of the information we receive about risks.

So, what do we know about the BRCA1 (breast cancer susceptibility gene 1) and BRCA2 (breast cancer susceptibility gene 2) genetic testing for mutations? How is this information linked to our risk of cancer? A woman or man is at high risk for developing cancer if she or he inherits a harmful mutation of either gene. The gene mutation affects women and men differently. According to Kate Shane-Carson, MS, Certified Genetic Counselor, Assistant Professor, Clinical Internal Medicine at The Ohio State University Division of Human Genetics, “In the general population, women have about a 10-12% lifetime risk to develop breast cancer and a 1.5% lifetime risk to develop ovarian cancer. However, women with a BRCA1 or BRCA2 mutation have a 50-85% lifetime risk to develop breast cancer. Women with a BRCA1 mutation have a 40-60% lifetime risk to develop ovarian cancer, and women with a BRCA2 mutation have a 10-20% lifetime risk to develop ovarian cancer. In the general population, men have less than a 1% lifetime risk to develop breast cancer. Men with a BRCA1 mutation have about a 1% lifetime risk to develop breast cancer, and men with a BRCA2 mutation have about a 5-10% lifetime risk to develop breast cancer. Men also have an increased risk to develop prostate cancer with a BRCA1 or BRCA2 gene mutation. The BRCA2 gene has also been associated with an increased risk for pancreatic, throat, stomach, and melanoma skin cancer.” Studies conducted to understand the association of these gene mutations linked to cancer has most often only been investigated in families with past histories of cancer.2 We have an abundant amount of information about the association between gene mutation and risk of cancer. However, there is limited research that examines psychological and emotion risks associated with genetic testing.

Genetic testing is a blood sample that investigates any alterations in proteins associated with the mutation. The results of this test can take several weeks to obtain. The cost of the test can range up into the thousands of dollars and may or may not be covered by health insurance. Prior to scheduling a genetic test, it is suggested that one seeks advice from a genetic counselor for a risk assessment and psychological outcomes resulting from positive or negative test results. Results of genetic testing can lead to depression, anxiety, and/or anger. Positive results may cause one to undergo preventive surgeries with the possibility of lifelong complications. Negative results may cause one to feel survivor’s guilt associated with knowing that one is at low risk for developing cancer. According to Kate Shane-Carson, “It is also important to note that if a mutation has not been previously identified in the family, and a person has a negative BRCA1/BRCA2 test result, they and their family members may still be considered at an increased risk for cancer based on their personal and family history, due to other genetic and environmental factors for which we cannot test for or have a good understanding of at this time. In these cases, it is important for patients to talk with their genetic counselors and physicians for a complete evaluation of their personal and family history to see if increased screening and possible consideration of preventive surgery is still indicated.” The social and psychological effects of genetic testing may involve family tensions and an increase in individual surveillance of the self (e.g., issues of confidentiality of genetic testing and individual responsibility for screening).3

Because of the limited amount of information about how we individually cope with the results of genetic testing, there are some issues that we should take into consideration. First, you may want to investigate your own individual risk factors. In Jolie’s case, her family medical history motivated her to schedule a genetic test. Second, you should try to learn as much as you can about genetic testing and how you may respond to positive or negative outcomes. Third, talk to an expert or genetic counselor if you decide to move forward and make sure to discuss any concerns or questions you may have about genetic testing. Finally, you should understand that the decision to act upon results is a personal choice. For Jolie her calculated risk for developing breast cancer was 87 percent based upon a genetic test of the BRCA1 gene. Jolie was a high risk candidate for developing breast cancer and her decision to undergo a prophylactic double mastectomy was a personal choice. There are several options for positive test results that range from low risk referred to as surveillance measures (e.g., screenings) to high risk referred to as prophylactic measures (e.g., surgery). Whatever personal decision you make involves physiological, psychological, social, financial, and emotional, sometimes unintended, effects for both an individual and their family that should be considered when acting upon risk information.
For more information about genetic testing, you can visit the OSU Clinical Cancer Genetics website at and/or Family HealthLink at

1 Jolie, A. (2013 May, 14). My medical choice. The New York Times, p. A25.
2 National Cancer Institute. (2009). BRCA1 and BRCA2: Cancer risk and genetic testing [Fact Sheet]. Retrieved from
3 National Cancer Institute. (2009). BRCA1 and BRCA2: Cancer risk and genetic testing [Fact Sheet]. Retrieved from

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