As we forge ahead through the 21st century, scientific advances, including the human genome project, have created increasing potential for prevention of illness such as cancer. As a result, our ability to determine who may be at increased risk for diseases such as cancer is among those important advances. Genetic screening for inherited cancer risk is a simple test in its execution, but this quick blood draw holds extremely powerful information for individuals and their families regarding health and illness across the lifespan. Indeed, the psychosocial issues that arise from genetic testing interact with elements of our personality and cognitive capacity, affect our relationships with ourselves and with others, and strike at the core of our very identity.
Decision Making
• Who should pursue screening and why? Before you pursue testing, you should first consider if the test would be beneficial to you. Cancer patients and survivors are often first to consider genetic testing and in some cases, test results may be used to help plan cancer treatment. Unaffected relatives of cancer patients and those with suspected or confirmed family history of cancer are also considered for testing. For example, if you are a 30 year old woman with a mother and maternal aunt who have had breast cancer and a maternal grandmother with ovarian cancer, it is possible that the cancer that runs throughout your family is inherited. Instead of spending nights worrying about whether or not you have inherited this cancer, genetic screening for BRCA1/2 may help alleviate some of this uncertainty and in turn, may help you determine a course of action to improve your health status. In addition, determining your mutation status may enable your physician to individually tailor preventive care.
• Limitations of testing: Despite the benefits, the choice to not pursue testing is just as viable an option as choosing to test and it is important to keep in mind that genetic screening for cancer-causing mutations is not without limitations. Although genetic screening can help individuals learn about the presence of genetic mutations, these tests do not test for cancer itself, and merely offer a better understanding of the risk of developing cancer in the future. That is, testing does not determine if you currently have a cancer condition, does not explain how or why mutations occur and does not determine disease onset, course, or severity. Perhaps most importantly, even if no mutations are detected by the screening procedure, it does not mean that you are free from cancer risk. Cancer is an illness caused by a confluence of mutations in multiple genes and environmental factors and your may continue to be at risk for developing a sporadic cancer condition. Finally, screening is costly and availability of genetic counselors and testing centers may be limited for some people. However, as many Ashkenazi Jews undergo testing for only the founder mutations (“Ashkenazi panel”), the cost to this population may be lower.
• Concerns about discrimination: Even while weighing the benefits and limitations of genetic screening, you may also find yourself worrying about both health insurance and life insurance discrimination and the potential misuse of information in other ways. In the United States, the federal Genetic Information Nondiscrimination Act of 2008 (GINA) protects individuals undergoing genetic testing and prohibits insurers from denying insurance or raising premium or contribution rates on the basis of genetic information. One way to manage some of your concerns about life insurance discrimination is to purchase life insurance before undergoing genetic testing, so as to eliminate the possibility of being denied a policy. Also, although you may be concerned about the potential for workplace discrimination, it is important to note that GINA also covers protection from such discrimination and even before this law passed there were no documented cases of such prejudice reported.
• Cultural differences: Cultural, ethnic, and/or sociodemographic factors also influence the degree to which individuals choose to pursue testing. For example, in a recent study, African-American women who declined genetic counseling or testing reported greater concerns about stigmatization and familial guilt. Other data demonstrated that among Ashkenazi Jewish women, those with strong Jewish cultural identity overestimated their perceived risk of developing breast cancer even after receiving counseling and those with greater religious identity were more interested in pursuing testing after receiving genetic counseling.
As you consider testing: Psychological, emotional and social implications
• Normal Anxiety and Distress: Most likely, if you have a family history of cancer, you already experience a significant level of distress when thinking about the possibility of your having cancer in the future. Anyone would be anxious if given an opportunity to learn if their risk for a deadly illness is higher than average. Recent research indicates that in individuals seeking genetic counseling and testing for a variety of cancer diagnoses, high levels of anxiety were reported and were particularly high for those with painful memories of how the illness had affected close family members. Worrying in this way may actually be useful in that it serves as a way to rehearse or prepare for receiving test results. In fact, if you experience no anxiety about testing, research demonstrates that you may be more at risk for greater distress after receiving test results.
• Anxiety about managing results: In thinking about whether to pursue testing, you will likely have concerns about how others will react. It is also important to think about what a “positive” finding may mean for you personally. Will it affect your relationships with others, choice of employment, plans for biological children, economic status? In essence, what will you do with the test result? Research has supported the idea that people are sometimes reluctant to pursue testing when they don’t believe that the result will change their current screening regimen. For example, if colon cancer runs in your family and you already have a yearly colonoscopy, you might wonder if there would be a benefit to learning your genetic status regarding HNPCC/Lynch syndrome. Of course, the answer depends on what else you might do with this information and how your family and future generations might derive benefit from knowing your genetic status.
• Risk Perception: Interest in pursuing genetic counseling and testing is often informed by an individual’s belief that his/her level of vulnerability to disease is due to a hereditary predisposition in his/her family. Research has shown that in general, for example, women overestimate their risk for breast cancer and some individuals (especially those with an extensive family history of cancer) are so convinced that cancer is inevitable, that they believe it is not a question of if they develop cancer but rather when. In many of these cases, people hold the false belief that genetics are responsible for determining their breast/ovarian cancer risk, but the reality is that only 5-10% of such cancers are hereditary. Before pursuing testing, it may be helpful for you to think about your own risk perception – that is, how likely is it that you will develop a specific cancer, either in the next year, five years, or over your lifetime – and speak to a genetic counselor about how realistic that assessment is. It may also help you to think about how much you believe genetics play a role in your estimate of risk to determine whether learning about your actual genetic risk will provide you with helpful information.
• Communication with Family Members: Before pursuing testing, you may want to consider the kinds of relationships you have with other members of your family. Does your family share intimate medical details freely or are there secrets between family members? While learning of the presence of a genetic mutation in a family can often bring family members closer together, there is also the potential for miscommunication and hurt feelings between family members. Concerns about how the results might affect your family are normal and should be thoroughly considered early on in the counseling/testing process.
• Biological family: Although we hope that family members will provide the necessary love and support for individuals who choose to embark on the genetic screening process, deciding to pursue genetic testing also has the potential to foster resentments and general tension within families. Therefore, determining who you can and want to talk to about your decision to test is also important. Often, when genetic mutations are found in one family member, additional family members are then forced to think about their own desire to pursue testing. Siblings who are not interested in knowing the family’s genetic status may feel that such information was forced upon them. Older family members may not understand why testing is important or how technology plays a role in the private health matters of the family. Similarly, your parents may be resistant to learning more about your genetic makeup, as they may fear that you will blame them for a genetic mutation and/or they may harbor their own guilt for doing so. Finally, children may not understand the details of a genetic test and/or may believe that finding a mutation means their parent is sick right now. You may consider keeping the information to yourself, but if you’re planning prophylactic measures, it may be difficult to keep the truth from close family members.
• Spouse/significant others: Thinking about how a partner may respond to the presence of a genetic mutation is crucial for many people. Because the presence of a genetic mutation may impact an individual’s desire to have biological children for fear of passing on a mutation and/or may influence the time frame in which children are conceived (i.e., prior to pursuing prophylactic surgery), your age, stage of life, and whether or not you have children are important factors which play a role in how your partner may react. For example, if you already have children, your partner may react differently than if you are someone who has recently embarked on a new relationship with someone for whom having biological children is important.
• Coping/Information Processing Style: Genetic screening for cancer requires a willingness to attend to and cope with a large body of abstract and complex information which is potentially threatening to one’s personal bodily integrity. When dealing with health-related information, personality variables can greatly impact the extent of an individual’s emotional response and coping. One such personality variable involves the degree to which individuals are “monitors,” who tend to focus on threatening aspects of the information provided, focus on negative outcomes, and continue to somewhat compulsively search for new information that they hope will allay their fears, or “blunters,” who intuitively shield themselves from the threat component of information provided to them. Research has demonstrated that for women awaiting BRCA1/2 results, those who are high “monitors” have greater levels of anxiety, more intrusive thoughts about cancer, and higher levels of general distress.
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Receiving results: Psychological, social and emotional considerations
Should you decide to pursue testing, you will likely experience a range of different emotions throughout the process.
• Waiting for your results: Depending on where you live, you may be waiting for your results anywhere from several weeks to several months, or even longer. This period of time can be very challenging. You have likely made a firm decision to be proactive about your health, weighed the pros and cons of testing, and are now having to manage the uncertainty of a lengthy waiting period. The best thing to do during this period of time is to be optimistic, focus on other aspects of your life, and to take good care of yourself. It is not useful to dwell on whether or not testing was a good idea and/or to worry about the test result. Time will pass and the results will eventually reveal themselves.
• Positive result – learning you have a mutation: It is common to experience increased anxiety after receiving a “positive” result, because you are suddenly aware of your increased risk. In fact, you may begin to wonder if you or others will define yourself by your genetic status. You may feel increased stress over having to decide the best cancer prevention strategy for yourself. Depression and sadness are also somewhat common, especially in cases where an individual has lost a close family member to cancer in the past. Some speculate that resolution of grief is helped by being able to differentiate oneself from the person who has died, and this is made more difficult by linking one’s relative’s cancer with oneself. That said, you may also experience relief from knowing your risk status and can now increase your cancer surveillance efforts or take steps to reduce your risk. In general, most people cope well in the face of learning of their increased risk. Talking to a genetic counselor, psychologist, or oncologist may help provide clarity about many of these issues.
• Negative result – learning you do not have a mutation: Although somewhat counterintuitive, learning that you do not have a genetic mutation may also increase your level of distress. Many people have looked for the testing to provide an explanation about why there is so much cancer in their family and in the absence of a mutation they are left feeling more confused. Others may feel guilty if they do not have a mutation while others in their family do – a type of “survivor” guilt. Most often however, when individual test results are negative, and there is a known mutation in the family, individuals feel a huge sense of relief. Regardless, it is important to remember that even with a negative test result you still remain at risk for cancer – the same amount as in the general population.
• Unclear results – variants of unknown/uncertain significance: In some situations, test results are neither positive nor negative, but rather, identify a gene alteration that hasn’t been seen in other families and/or there isn’t enough information about the mutation to know whether it causes an increased risk of cancer. This result may also increase confusion and anxiety about cancer risk and may leave you feeling frustrated over the lack of useful information and the current state of medical science.
• Responses from family to presence of a mutation: After receiving results indicating the presence of a genetic mutation, even if all family members are not aware of their genetic status, the existence of a mutation in the family is now “known” as a certainty. Some family members may be concerned about confidentiality and may require you to be particularly guarded with this information. As a result, your relationships with them may change. Alternatively, discovering the presence of a mutation may deepen ties to other affected family members as each of you may feel better able to support each other in making decisions regarding your genetic status.
Spouses and significant others may also be impacted by these results, as they may be concerned about what your genetic status may mean for them. In essence, the same ideas that concern you about your life plan may also be of concern to them: career choices, pursuing relationships, having children. If you already have children, they may also be concerned about your having passed the same mutation to your children and if so, may feel resentment toward you and other of your biological relatives for this situation.
As genetic screening for hereditary cancer becomes more available and widespread, our understanding of how this process impacts individuals, family life, and society will also likely improve. At present, research indicates that although there are many psychosocial issues to consider, the benefits of discovering one’s genetic status are quite significant and have the potential to reduce mortality over the long term. If you are considering pursuing genetic screening, you should only do so after consulting with a genetic counselor who can help you make an informed decision. Speaking to a psychologist or other mental health professional, who has knowledge of the genetic screening process, may also help you further explore these psychosocial issues in more detail. In addition, for those pursuing testing for BRCA1/2, Facing Our Risk of Cancer Empowered (FORCE) is a wonderful organization which provides support for those who have increased genetic risk for breast and ovarian cancer. More information about their organization can be found on their website.
For further reading:
Bowen, D.J., Burke, W., Culver, J.O., Press, N., & Crystal, S. (2006). Effects of counseling Ashkenazi Jewish women about breast cancer risk. Cultural Diversity and Ethnic Minority Psychology, 12, 45-56.
Lerman, C., Narod, S., Schulman, K., Hughes, C., Gomez-Caminero, A., & Bonney, G. (1996). BRCA1 testing in families with hereditary breast-ovarian cancer: A prospective study of patient decision making and outcomes. JAMA, 275, 1885-1892.
Patenaude, A.F. (2005). Genetic Testing for Cancer: Psychological Approaches for Helping Patients and Families. Washington, DC: APA.
Michelle S. Wasserman, PhD, is a licensed clinical psychologist in independent practice at Wellsprings Health Associates in Chicago. She completed her postdoctoral fellowship in behavioral medicine at the University of Chicago Medical Center, where she spent several years providing psychotherapy and consultation for individuals and families seeking genetic testing for hereditary cancers. Currently she provides individual psychotherapy for older adolescents and adults and specializes in several areas of women’s health, including mood and anxiety disorders, eating and weight disorders/body image issues, smoking cessation, coping with cancer and issues related to cancer genetics, stage of life transitions and relational issues.