May 23, 2013

Addressing Psychological Impacts of Genetic Testing on Patients, Families

Six questions for psychologist Andrea Farkas Patenaude, PhD

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Actress Angelina Jolie’s decision to have a prophylactic double mastectomy after discovering she had a genetic mutation that put her at high risk for breast cancer has raised awareness about genetic screening. Genetic counselors can help patients deal with the psychological impact of screening and help them weigh their options if they do find they are at risk.

Andrea Farkas Patenaude, PhDAndrea Farkas Patenaude, PhD, is director of psychology research and clinical services with the Center for Cancer Genetics and Prevention at the Dana-Farber Cancer Institute. She is also an associate professor of psychology in the department of psychiatry at Harvard Medical School. Patenaude has studied the psychological and social effects of hereditary breast and ovarian cancer for the past 20 years and is working on a project to inform and support young women with a high likelihood of developing those cancers. She counsels patients who are either considering genetic testing or have already undergone testing and may be considering prophylactic surgery. Patenaude is the author of the book “Genetic Testing for Cancer: Psychological Approaches to Helping Patients and Families,” published by APA in 2005, and "Prophylactic Mastectomy: Insights from Women Who Chose to Reduce Their Risk," published last year.

APA recently asked Patenaude the following questions.

APA: What does the latest research tell us about psychological impacts of genetic testing? How much has this field changed in the last few decades?

Patenaude: In the early years of cancer genetic testing, there was concern that discovering a heightened risk of developing cancer could lead to clinical depression, high anxiety or even to thoughts of suicide. Since then, research has shown that individuals who know their genetic test results indicate a cancer risk are not likely to develop clinical psychopathologies. We now know that more subjective factors govern how a person understands what they learn in genetic consultations about personal risk. These factors may include how close the individual was to family members who developed or died from cancer and when these losses occurred. It is important for psychologists to be part of genetics teams to ensure patients have an opportunity to express their personal views, experiences and expectations and are not just provided with objective risk information. Genetic counselors and psychologists can collaborate so that the patient has a realistic understanding of what genetic testing can tell them and how, if results are positive, screening or surgery could help them reduce their risks. Test results, both good and bad, often affect the whole family. We also now know that parents would like to have professional guidance on how they can share their genetic results with children, especially young children. In general, many people find knowing their results helpful and empowering, and professional support is often even more helpful in dealing with family issues or other concerns, such as accessing screening or considering the possibility of surgery.

Important changes have occurred over the past two decades. Early on, people receiving genetic testing tended to be from families very heavily affected by cancer. These families first came to attention as possibly having hereditary cancers. With more clinical testing now available, we are testing people without as much family history, sometimes with no immediate family members who have had cancer. In these cases, finding an inherited mutation may be more of a shock that calls for more education and support. Testing now often occurs immediately after a diagnosis of breast or ovarian cancer, so the tested person may be dealing with multiple challenges and, again, can benefit from support. Genetic testing itself is also changing, with women today sometimes being offered testing not just for the BRCA1/2 genes linked to breast and ovarian cancers, but for a panel of genetic mutations that can predispose women to these types of cancer. In these cases, results are more difficult to interpret and professional counseling is strongly advised. Direct-to-consumer testing further complicates the scene because typically there is no counseling and patients often misinterpret the results. Ethicists, psychologists and medical professionals are working on approaches to help patients decide which test results they want to receive based on the range of genomic results that broader tests can deliver.

APA: You’ve studied women who, like the actress Angelina Jolie, chose to undergo prophylactic mastectomies after genetic testing. What is the emotional impact of this type of surgery? How is it different from women who have mastectomies due to actual cancer?

Patenaude: There are a number of important differences. First is the issue of choice and then how others react. When a woman has cancer and with her doctors decides she will have a mastectomy, her friends and relatives are unlikely to question or oppose the decision. When a woman chooses to undergo a prophylactic mastectomy, the decisions about whether and when to have surgery are more abstract and not propelled by a newly diagnosed cancer. The patient often wonders if she is making the right choice and it is important that women think through this major decision very carefully. Her own doubt is compounded when a family member or friend and occasionally even a physician questions whether surgically removing healthy breasts is an unnecessary overreaction. While they usually just want to spare the woman the lifelong impact of surgery, they aren’t considering the woman’s emotional burden because of the threat of hereditary cancer and the anxiety caused by repeated screenings recommended for high-risk women. While many people know someone who had a mastectomy because of breast cancer, it is more difficult to find a woman who has undergone a prophylactic mastectomy and is willing talk to about it. It is also more difficult to find information about the emotional challenges for women considering a prophylactic mastectomy. It is critical that a woman consider the psychological and physical issues in order to decide what is most important to her.

The emotional impact of surgery can be highly variable. There are many, often complex, emotions aroused by the prophylactic removal of a woman’s breasts. While typically, women are very relieved to feel free of cancer risks that have weighed heavily on them, many also have other feelings at the same time. Most women choose to have reconstruction, but finding satisfaction with the size and shape of their breasts may require post-surgical consultation and, sometimes, surgical modifications. Worries about lack of femininity or sexual attractiveness may plague some women even when they have supportive partners. Psychological consultation can help patients sort out emotions before they interfere in their intimate relationships.

APA: You also counsel patients who are considering a prophylactic mastectomy or have already undergone testing and are weighing their options. What is the most trying part of this process for these patients? How do you help them?

Patenaude: This varies quite a bit from person to person. Some people start out quite early knowing they want to have a prophylactic mastectomy. Some may have been told in their teens by their dying mother to have a prophylactic mastectomy. It can be helpful for women, even those very sure of their decision, to talk to a psychologist before surgery. Some women fear the psychologist will try to talk them out of surgery or that a referral means their doctor questions their psychological state. This is not the case. Referrals are usually to help a woman think through aspects of the surgery that relate to issues most important to her. They can make surgery much less frightening and can enhance her ability to cope with the changes surgery brings.

I help women first by asking them to tell me how they arrived at their current thoughts about prophylactic surgery. I try to ascertain if they have felt any pressure or coercion from family members or medical professionals. As was certainly true for Angelina Jolie, many women talk about how much they want to be there for their children as they grow up and that motivates them to have surgery. For some, this is a “no-brainer” and they are eager for surgery; for others, the choices are much more difficult. We talk about several things pre-surgery, including the woman’s physical concerns, the reconstruction phase, communication with her family and sexual ramifications. I may also see a patient post-surgery to help her adjust to her sense of herself and her body. While generally, women are relieved and pleased with their decision, the experience of major bodily change may arouse old psychological issues about body image and identity or may just require support to strengthen women’s coping mechanisms.

APA: What kinds of genetic testing and prophylactic procedures are available for men?

Patenaude: Genetic testing for a man from a family with inherited breast or ovarian cancer is exactly the same as genetic testing for a woman from that family. A deleterious mutation is as likely to be passed down by a father as by a mother to either a son or daughter. The cancer risks to men who are BRCA1/2 mutation carriers are, however, significantly less extreme than the increased risks to a woman. For men, the increased risk includes a 1-to-7 percent risk for breast cancer and somewhat increased risk for prostate and pancreatic cancer. Because these risks are low, prophylactic surgery is not recommended for male BRCA1/2 mutation carriers but they may be advised to let their physicians know and to have regular physicals. Fathers often seek genetic testing to clarify potential cancer risks to their daughters.

APA: What does it cost for genetic testing and what can people who suspect they may have a mutation do if they cannot afford the testing?

Patenaude: The cost of the test depends on whether someone in your family who has been diagnosed with cancer has already been found to be a mutation carrier. If that is the case, your testing is likely to cost between $300 and $500 and your health insurance may pay for testing. This testing is likely to be more definitive, since it will tell you if you do or do not have the same deleterious genetic mutation that led to cancer in your relative. If you are the first in your family to be tested, testing may cost several thousand dollars and the results may not be as definitive. Individuals who don’t have insurance that will pay for testing should talk to genetic counselors or social workers at a local cancer center to learn about local or foundation funds that are available. Based on income and hardship, genetic testing costs may be paid for by the Cancer Resource Foundation. In cases where there is considerable family history indicating the likely presence of a deleterious mutation but it is not found during the genetic testing, patients often opt to undergo frequent medical cancer screenings to be sure an early cancer is not missed.

APA: What made you decide to specialize in the psychology of genetic testing?

Patenaude: This was less of a choice than just a combination of events and good luck. I was working as a clinical psychologist at the Dana-Farber Cancer Institute in Boston when I was approached by epidemiologist Fred Li, MD. He and Joseph Fraumeni, MD, from the National Institute of Health had found a hereditary cancer syndrome that is called Li-Fraumeni Syndrome. When the genetic mutation responsible for much of Li-Fraumeni Syndrome was found, Li asked me if I would like to work on a research project to study the psychological and medical impact of genetic testing on members of a high-risk cancer family. I was delighted and worked on that project with Judy Garber, MD, a breast oncologist. That same year the BRCA1 gene was found, she and I developed another research project to train teams of genetic counselors and nurses to deliver BRCA1 counseling across the United States. Since then, I have worked on a number of different projects concerning psychological aspects of genetic testing, family communication and, most recently, the needs of the next generation of high-risk women, the daughters of BRCA1/2 mutation carriers.

Patenaude can be contacted by email or by phone at (617) 632-3314.

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