Psychosomatics 42:100-105, April 2001
© 2001 The Academy of Psychosomatic Medicine
Coping With Grim News From Genetic Tests
Mardi Horowitz, M.D.,
Eva Sundin, Ph.D.,
Andrea Zanko, M.S., and
Roger Lauer, M.D.
Received April 4, 2000; revised September 14, 2000; accepted November 27, 2000. From the Departments of Psychiatry and Pediatrics, University of California in San Francisco, California. Address correspondence and reprint requests to Dr. Horowitz, Department of Psychiatry, University of California in San Francisco, 401 Parnassus Avenue, Box 0984, San Francisco, CA 94143.
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ABSTRACT
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Clinicians need to recognize and respond to stress response syndromes that may occur after patients have received genetic testing for inherited susceptibility to serious diseases. For patients whose test results convey high risk, increased attention to prevention, surveillance, and early medical treatment may be possible, but the grim news may also lead to a formation of symptoms ranging from extreme denial to unwelcomed intrusive ideas and feelings. Genetic counseling alone may be insufficient for some people, and evaluation and psychotherapy for stress response syndromes may be indicated for them.
Key Words: Coping • Stress Response • Counseling
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INTRODUCTION
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Genetic testing can now provide previously unavailable information about the likelihood of hereditary disorders. Such tests predict that some people have an increased risk for colon,1 breast, and ovarian cancers,2,3 as well as degenerative and fatal diseases of the brain, such as Huntington's disease.4 For all patients who are found to be genetically at high risk, the news is a dire threat, and the event of receiving it can lead to turbulent, emotional reactions. For people with a prevalence of such a disease in their biological families, a negative test result is often associated with relief and a decrease in stress.
For Huntington's disease, the test result is virtually conclusive—a negative test result indicates that people do not carry the causal gene and will not develop the illness. In contrast, for in breast and colon cancer predisposition testing, an indeterminate result may occur, which can be a source of continued distress.5–8
For people whose test results convey that they carry the disease gene, the results provide foreknowledge that may promote lifestyle changes, surveillance, and early treatment. Information about the disease may also guide reproductive decisions and choices about career goals. The emotional distress may be worthwhile, but if it is intense and prolonged, the outcome is a stress response syndrome with symptoms that, in some, can resemble a posttraumatic stress disorder. Unbidden images, intrusive thoughts, pangs of fear, irrational avoidance behaviors, and impulsive decision-making might occur.
On the basis of research summarized here and elsewhere,9 we predict that 20% of those who receive grim news of a genetic risk for a dire illness will develop symptoms of a stress response syndrome. In these instances, treatment is indicated, and our purpose in this paper is to briefly cover salient techniques for the psychotherapy component of such treatments. Our experience has been gained from patients who have given written and informed consent to the research on genetic testing and its possible psychological sequelae.
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BACKGROUND
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Recent studies of Huntington's disease examined the psychological consequences of people who received news about having a personal genetic disposition for this fatal neurodegenerative illness. In two studies,10,11 of 86 and 79 subjects respectively, authors have found significant distress in many of those who received such news. Also, among the people who received positive results after being tested for breast cancer gene mutations12–14 and colon cancer,15 some were severely distressed. In all six studies cited, carriers of the mutated gene had significantly higher levels of distress compared with noncarriers of the causal gene in question.
Many people will consequently restore their equilibrium by personal coping processes and with the support from family, friends, support groups, and genetic counselors. Genetic counselors are a vital part of this process; they work with both patients and families, providing support, coping techniques, resources, information about risk prognosis, and management. Genetic counselors facilitate decision-making and help people deal with their lives after decisions are made about testing, prevention, and surveillance. Such counselors often help the individual and family find positive value even with a future that has a likelihood of certain illness, disability, and premature death. In addition to the work of such genetic counselors, some people may benefit from additional psychotherapy techniques. Such interventions build upon the base provided by genetic counseling.
Research on the effectiveness of various coping strategies provides information on how to perform such psychotherapy. Expressing emotions can reduce distress and start a process of revising a negative, initial interpretation.16 Strategies found to be effective in revising this type of initial and excessively dire interpretation include the following: reappraising the meaning of the new information and related stressor events; making changes in personal goals; comparing self to others who are in worse condition; and with less research evidence; practicing how to accept some outcomes; and focusing attention on life activities associated with perceived high self-control.17 Strategies that were found to be ineffective in coping strategy research include focusing on seemingly reparative illusions and unrealistic self-enhancing beliefs.18 Focusing attention on the worst possible interpretation has been associated with a poor outcome.19
Dire news from genetic tests means that patients have to mourn the loss of a sense of invulnerability of the self and a sense of an ideal future. Brief psychotherapy has been found effective for a somewhat analogous condition of complicated grief, where mourning is an important ameliorative process.20,21 The following summaries and recommendations are derived from such research.
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Psychotherapy to Facilitate Coping
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Mental processes that need to be addressed after this type of event involve two major tasks. One is shock mastery, which requires repeated appraisal and reappraisal of the meaning of the frightening news and anticipation of future ways of coping.22 A second task involves a review of questions like "Why me?" and "How will this affect my relations with others?" Answering these questions involves reschematization of identity, relationship beliefs, values, and life plans9. After receipt of the grim news of being at genetic risk for a severe disease, new views of the self and of significant others have to be created. Psychotherapy techniques can facilitate both shock mastery and identity-relationship reschematization.
Before assimilation of the dire news is achieved, moods of anxiety, depression, and anger can interfere with the ability to function through everyday life. A cascade of problems involving work, intimate relationships, and caretaking may occur. For a time, people may use extreme defensive control processes to avoid confusion, fear, or other dreaded states of mind. A consistent and prolonged use of defenses can inhibit contemplation that people fail to adjust. The result of pathological denial, for example, may include noncompliance with recommendations for prevention, surveillance, and treatment. Psychotherapy techniques may be phase oriented, in many stress response syndromes, and that approach is useful in this context as well. The therapist intervenes differently in states of intrusion, denial, and working-through as modeled in Table 1.9
Outcry Phase
Outcry occurs when a person is shocked and surprised by the news of the genetic risk for cancer, but outcry is less likely if the person is prepared for the news. A person may, for example, exclaim "Why me?" "I will never be happy again!" "It is all my fault!" or the person may sob uncontrollably. While some people who habitually cry upon receipt of bad news might not feel out of control if they sob, others who seldom cry may feel awkward and try to stifle their tears. The tears and other signs of emotion should be sanctioned and given time for expression.
To reduce a severe outcry, the setting for providing the news should emphasize empathic and compassionate validation. The focus in the early phase should be on the here-and-now, and not on the future "Expecting such an illness, how will I ever be happy again?" or should the focus be on the past "I am to blame for passing genes on to my children!" Issues that do not require decisions can be contemplated later. A dose-by-dose coping effort is recommended. The goal is planning the next few days and taking them one day at a time. Sudden decisions do not have to be made. For example, issues of deciding whether or not to have a prophylactic mastectomy or colonectomy can wait before a choice is made.
People receiving news of increased risk for cancer may listen to the genetic counselor, question intelligently, and proceed to have a resilient response as shown in Table 1. Others may go directly to a period of numbing and denial, perhaps with some intrusive emotional responses, as also summarized in Table 1.
Denial Phase
Irrational or avoidant behavior and lack of adaptive decision making may require attention during a denial, disavowal, excessively numbed, or dissociative phase. Focus on such issues requires considerable tact. Optimal interventions are built on the understanding what dreaded states of mind are being warded off. Usually, patients' avoidance of a topic is best examined in a trusting relationship with a concomitant interpretation of the reason why the inhibition has been useful. Explanation of why it is now safe to set aside the excessive defensive style may help moderate excessive avoidances. Dose-by-dose coping is repeatedly emphasized; people are encouraged to deal with one small piece of the tumultuous topic at a time and to be alert to impulsive or even irrational decisions. Patients are urged to practice both putting the topic into reflective awareness and putting it aside by attending to other topics and activities for a time-out in order to restore equilibrium.
Denial can take many forms; the following excerpt is one example.
Mrs. D. is a 38-year-old, married woman with a teenage daughter. She sought genetic testing for risk of breast cancer. Her mother and sister had developed the disease at a young age. The doctor informed Mrs. D. that the results indicated that she carried the risky mutations in her genes. Initially shocked, she sobbed uncontrollably. Within a day, Mrs. D. entered a denial phase and distanced herself from the news with a surprising statement that "I feel fine... there is no problem." Convinced of her good health, Mrs. D. abandoned plans for a medical follow-up.
Weeks passed, then months. Mrs. D. refused to have mammography and her husband and physician became alarmed. They urged her to receive counseling and she agreed. In counseling, each topic related to breast cancer was slowly and repeatedly contemplated. Mrs. D. selected which of several topics would be discussed next. The topics were slowly examined, one tolerable dose at a time. Then Mrs. D. would select what topic to confront next or whether to have a time-out to recover her emotional equilibrium.
After receiving stressful news, some people immediately have an outcry phase with unbidden ideas and pangs of feelings and then experience a period of avoidant behavior and emotional numbing. During such a denial phase, they tend to believe that they have already completed their emotional reactions to the news. Paradoxically, when they feel relatively safe, they may enter an intrusive phase.
Intrusive Phase
The intrusive phase often includes unbidden thoughts, sudden pangs of intense emotion, and a sense of losing self-control or self-worth. Some people, who have worked hard to solve their personal problems earlier in life, now find that problems they believed had been solved are now being reactivated into acute and intense conflicts. As in the following case example, earlier active, but now latent themes of degraded identity, may reappear.
Mrs. L. is a 33-year-old woman who had abused alcohol and amphetamines for many years. The periods of intoxication soothed feelings of self-disgust. Eventually, she entered a 12-step program and had been able to maintain sobriety for 6 years. For the most part, Mrs. L. felt generally self-worthy, even courageous, and proud. After learning about carrying a mutation in the breast cancer genes, Mrs. L. became overwhelmed with anxiety and dread. Feelings of worthlessness were reactivated, leading to other states of depression and self-loathing.
Mrs. L. ruminated about future suffering and a shortened life, and dreamt about illness, pain, and disfigurement. She felt certain that she was incapable of handling her fearful and confusing situation. With her growing self-doubts, Mrs. L. now tried to dissolve her distress as she did in her previous life, with a return to excessive drinking. This led to erratic behavior, hazardous driving, heated family conflicts, and impaired job performance.
After 6 months, Mrs. L. consulted a psychotherapist. To counter the degradation in her self-concepts that she communicated, the therapist emphasized her previous courage and skill in coping with alcoholism. The therapist related these adaptive action memories to her potential capacity to master the current situation. Encouraged to take action, she rejoined a 12-step program and stopped drinking. With regained sobriety, Mrs. L. could participate even more effectively in the psychotherapy. She began facing the reality of her genetic vulnerability. Time off from contemplating cancer topics was also sanctioned. The technique of dose-by-dose coping with each topic was useful to her. Gradually she restored her sense of self-esteem and began making future plans for both medical decisions and heightened quality-of-life activities.
In a case like Mrs. L., treatment interventions that bolster a realistic sense of self-competence and self-worth are especially important. Facilitating a restructuring of the story of recent events and associated personal themes can reduce the scattered but repetitive quality of the intrusive ideas. Patients need to be able to discriminate between reality and fantasy beliefs. Beliefs about cause and effect sequences can be affirmed or interpreted as irrational. Placing memories of past events and future possibilities into a time frame is valuable.
Working-Through Phase
Dose-by-dose coping characterizes a normal working-through phase which occurs in people who do not seek psychotherapy. Any threatening news, such as increased risk for breast or colon cancer, will have many ramifications, each with many subsidiary topics. Each subsidiary topic requires a period of contemplation. Then the topic needs to be connected and reinterpreted in association with other important themes.
Amongst the important topics will be the impact of the news on relatives. For instance, a healthy woman may learn that she is at high risk for breast cancer because of her genetic composition. Her young adult daughter may or may not want to know about this information as it pertains to her own possible heightened risk. There will be dilemmas and emotional consequences to consider, and conflicts on such topics are important considerations in psychotherapy. The ripples or waves of emotional response will also extend to the older generation of relatives. Her mother and father might feel distress at providing the genetic material to her as well as laterally to her siblings. The reaction of the woman's husband will also be an important interpersonal theme and an intrapsychic topic with many valences. Working-through involves addressing unresolved decisions and digestions of reactions on these powerful relationship topics. The matter is compounded by topics of who and what to tell people at work or in health care systems.
This process begins with awareness and repeated clarifications. Irrational cognitions and projections may be recognized and revised. Then new decisions evolve gradually.
Cognitions, self-concepts, and roles of relationships modeled in the mind's inner view of self-other affiliations, all occur in a matrix of intentions, expectations, values, and potential affects. These are complex configurations of beliefs and schemas that organize identity and emotional ties to others. Although the sense of identity may become shaky because of the mismatches and altered associations created by stress, working-through can lead to a renewed sense of firm identity, an enhanced sense of self-efficacy, and an invigorating sense of having planned how to move toward reachable goals.
Sometimes, individual conflicts require use of the more expressive techniques of psychotherapy. A procedure of asking about the near future is a useful starting-point. Dreaded longer-range future expectations can then be reviewed, as can any activated memories of earlier traumas or fears. When irrational, negative expectations have been identified, erroneous beliefs can be counteracted with facts, reason, and alternative interpretations.
During a working-through phase, beliefs about self as incompetent, unattractive, bad, shamed, guilty, weak, worthless, degraded, or disgusting may be challenged. People with more prior conflictual or damaged self beliefs are more likely to experience such identity and relationship disturbances and to project irrationally damaged self-concepts into the future. Negative moods can be ameliorated by interpreting likely differences between dire fantasies and realistic future possibilities.
Opportunities to contemplate self-beliefs, as well as conflicts and deficiencies, provide an opportunity for identity-integration. But, in cases where prior character problems complicate a working-through process, longer-term therapeutic work may be indicated. To accomplish such tasks, work to alter maladaptive defensive operations is often necessary. The reason is that some people, when focusing on future threats, may use habitual styles for preventing excessive emotionality.
The most common styles of such defensive avoidance are excessive inhibition of ideas and intellectualization so as to avoid emotional arousals. Table 2 presents some generalizations about style and treatment techniques for people who typically inhibit ideas and Table 3 does so for people who avoid emotion through intellectual generalities.
Avoidance of difficult topics is a way of coping with the turbulent emotional responses to the dire news from some genetic tests. Some people will habitually inhibit topical expression in both thought and communication with others and will also use intellectuality to avoid intense emotions if and when the warded-off topic is contemplated. The most useful approaches in helping the person master the emotionality generated by such topics involve support, tact, clarity, patience, and a dose-by-dose approach.
Support includes providing options for future sessions to review and reconsider the most vexing issues, as well as an empathic but not saccharine manifestation of both caring and expertise. Tact involves a sense of knowing how to go to a level of emotion that is not too deep or confrontive while still looking at the feelings generated by previously avoided contents. Clarity includes many repetitions of causes and effects, being careful to differentiate realistic connections from fantasy-based and dysfunctional beliefs about what is likely to happen in the future. Patience means going at the slower pace of the subject, not at the faster pace of the counselor's understanding. The dose-by-dose approach includes explicit statements that sanctions time-off as well as time-on discussing the emotionally hard topics.
Completion
As completion approaches, a time for ending psychotherapy may be tentatively set. Termination can increase a sense of vulnerability and threaten to provoke a regression. For this reason, setting a date several sessions in advance is advisable. It is wise to schedule booster sessions, to be "on call," and to set a specified date for a follow-up. Sometimes referral to other resources is indicated, as in the following case example.
Mr. K. is a 46-year-old, newly married man who had been beleaguered by major financial, legal and work problems for several months. While struggling with these burdens, Mr. K. learned that he carried genes that sharply elevated his known familial risk for colon cancer. Profoundly unsettled by this medical news, he became anxious, irritable, and developed severe insomnia. Prompted by his wife and a genetic counselor, Mr. K. sought psychotherapy. The treatment used conjoint therapy to help Mr. K. and his wife to assimilate and integrate the news of genetic risk and make realistic plans. Over 20 sessions in the course of 6 months, Mr. K. and his wife responded well. In examining their situation and their goals, which included surveillance but not prophylactic colonectomy, Mr. K. and his wife decided to move out of state to be closer to their families. A referral visit to a local clinician was arranged as a bridge to future help should that be indicated. This visit would make it easier to engage in future treatment, should that become necessary, and add to their sense of security.
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SUMMARY
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New medical tests provide people with useful, but potentially grim news, about a likely dire personal future. Learning ways of coping with this threatening news can be facilitated through apt interventions by health care professionals. Knowledge about phases of response and defensive styles can assist these efforts. Our paper provided a simple model of psychotherapy. The emphasis is on supportive help and dose-by-dose confrontation with the meaning of genetic test results and on facilitating reschematization of identity so that it accords well with realistic possibilities.
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ACKNOWLEDGMENTS
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This study was supported by pilot grants from the Cohn Foundation, UCSF, Academic Senate, the Swedish Research Council for the Humanities and Social Sciences (HSFR) F126496; and the Cancer Research Coordinating Committee, University of California, 2–519871–37992.
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ABSTRACT
INTRODUCTION
