The Psychotherapy of Genetics

8/13/2019 The Psychotherapy of Genetics

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single-gene disorders such as Huntington disease. Predictive testing for these disor-ders can be presymptomatic; a positive result is a diagnosis of current or future ill-ness. Advances in genomic science in the last decade have led to the New Genetics,including a beginning understanding of the genetic contribution to some common

chronic illnesses such as heart disease, diabetes, Alzheimer disease, and familialbreast cancer. These illnesses are complex multigene disorders. Predictive testing forthese mutations is predispositional; a positive test for these mutations means an increased risk or susceptibility for the disease, without certainty that the illness willever develop. 1

Current genetic testing falls into ve categories: (1) prenatal testing, now commonfor advanced maternal age or high-risk pregnancies with a family history of a geneticdefect or anomaly, (2) newborn screening, the most common form of genetic testing,which is state mandated to cover rare biochemical disorders and sickle cell disease andhypothyroidism, (3) carrier testing, to identify recessive mutations in which both

parents are required to have the mutation for their child to develop the disease, (4)diagnostic testing, to conrm disorders such as Down syndrome in a child with con-genital anomalies, or Huntington disease in a person with symptoms, and (5) pre-dictive testing, which determines a persons risk for developing a disease later in life.By 2020, scientists believe that pharmacogenetic testing will be available to predictindividual response to medications (Roses, 2000). All of these developments mean thatpatients can or will have much more information about their current and futurehealth than ever before. The question is, do we want that information, and what willwe do with it if we do?

THE PSYCHOLOGY OF GENETIC DISORDERS We are only beginning to understand the psychology of genetic disorders. The ex-

perience begins with the knowledge of a genetic condition in the family, and whenavailable, the decision for genetic testing F or not. The experience of genetic testing varies with the meaning of the test results. Being tested and potentially diagnosedwith a progressive, terminal condition without any treatment available, like Hunt-ington disease, is vastly different from being tested for a breast cancer mutation thatsignies increased risk for a condition for which there is a hopeful prognosis withpreventive intervention and treatment. Given the prognosis for Huntington disease,perhaps it is not surprising that significant discrepancies exist for at-risk individualsbetween their intentions to get tested and their actual testing behavior. Before a testwas widely available, 56%81% of at-risk people stated their desire to be tested (Koller& Davenport, 1984; Tyler & Harper, 1983). However, only 10%20% of relevant in-dividuals actually sought testing once it was an option (Craufurd, Dodge, Kerzin-Storrar, & Harris, 1989; Quaid & Morris, 1993). In contrast, several studies of largefamilies with known breast cancer mutations (BRCA1/2 ) found test uptake of 35%43% (Lerman et al., 1996; Lerman, Croyle, Tercyak, & Hamann, 2002). Perhaps themost interesting and robust studies to date of psychosocial aspects of genetic testing nd that it is the perceived risk rather than the scientific risk that inuences behavior,

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Fascinating work has been done studying the gene-environment interaction that inuences thepenetrance of certain behaviors, such as those related to adolescent development or marital rela-tionships (Reiss, Neiderhiser, Hetherington, & Plomin, 2000), or psychiatric illnesses such as

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decision-making, and the emotional outcome after testing (Lerman et al., 2002). It isthe meaning we make of these data, not necessarily the data themselves, that affectshow we respond.

IMPLICATIONS FOR FAMILY THERAPY

What does all this have to do with psychotherapy? The effects of genomic science onpsychotherapy in 2004 may seem remote to most clinicians, but within the next dec-ade, the realities of genetic screening and testing are likely to have a profound effecton health, health care, and the experience of being human. When we go for a routinephysical, rather than making blanket pronouncements about increasing exercise,lowering cholesterol, and other preventive health measures, our physicians and nursepractitioners are likely to draw individualized blueprints of personal risk factors basedon our specific personal genotype. How will we experience this more focused, specific

health information (McDaniel, Campbell, Hepworth, & Lorenz, 2005)? What will bethe effect on family relationships of knowing, for example, that your mothers geno-type puts you at higher risk for breast cancer, while your father contributed a geneticmutation making Alzheimer disease likely (Miller, McDaniel, Rolland, & Feetham, inpress)? Soon we will have access to far more information than ever before about ourbiological heritage (and future). How will this information affect our internal expe-rience and our definitions of ourselves as sick, vulnerable, or healthy? How will itaffect our choice of partners, decisions to marry, plans to have children, or relation-ships with our adolescent sons and daughters? What information previously keptsecret, such as paternity related to donor insemination, will now be shared (Imber-Black, 1993)? This is a new frontier for psychotherapy, the psychotherapy of genetics.

Genetic disorders are biopsychosocial, transgenerational processes. From the be-ginning, scientists at the Human Genome Project (HGP) recognized the complex bi-opsychosocial nature of what they were studying. Funding for HGP has included a required expenditure of 5% each year on projects that investigate the ethical, legal,and social implications (ELSI) of genomic science. The family domain is critical, and todate, relatively neglected (Miller et al., in press). Only a handful of studies describe theeffect of genetic testing on the family. One study of Huntington disease showed thatpartners respond with similar thoughts and feelings as tested individuals (i.e., carri-ers) and their partners show an increase of hopelessness over noncarriers at one weekpost-testing. This difference disappears at 6 months (Tibben, Timman, Bannick, &Duivenvoorden, 1997). A few studies have examined the effects of testing on siblings,including a study of the BRCA1/2 breast cancer mutations that found the highestlevels of distress among female carriers who had siblings who tested negative (Smith, West, Croyle, & Botkin, 1999). Lerman and colleagues (2002), in their denitive re-view on the psychological aspects of genetic testing, commented on the complexity of family research regarding genetic disorders and the need for new measures and an-alytic strategies . . . to tap the richness of family responses and to create a morecomplete picture of the effects of genetic testing (p. 793).

Mapping the human genome has enabled clinicians to nd out who is genetically atrisk for some illnesses. We need to know much more than who is affected geneticallyby a particular mutation; we need to know who is affected psychologically and in-terpersonally, who may benet from family therapy consultation or treatment. Early

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immediate period after genetic testing of any kind (Lerman et al., 2002). However,longitudinal studies are only now being conducted, and there is no doubt that somesubgroups are vulnerable, such as those with previous histories of depression, anxiety,or serious family problems. The psychological and interpersonal aspects of genetic

illness are a natural venue for family therapists to participate as part of the healthcareteam in the evolving practice of helping patients to: (1) understand their risk forgenetic illness, (2) cope with this information and the results of testing other familymembers, (3) make decisions regarding preventive measures, treatment, and testing,and (4) improve individual coping and family relationships in the face of these chal-lenges (McDaniel et al., in press).

IMPACT ON FAMILY RELATIONSHIPS

Clinically, the tradition of health care targeting individuals is challenged by familialillness (Seaburn, McDaniel, Kim, & Bassen, 2004). Genetic information has the po-tential for radically altering family relationships F subdividing families and creating new family alignments. Many dilemmas pit individual autonomy against the familysright to know. What is the practitioners duty to inform rst-degree relatives, forexample, of a patients genetic mutation for colon cancer, a disease that is treatable if it is detected early? Currently, our healthcare system, like our society, is heavilyweighted on the side of individual rights. Should family members know about theirown increased risk if a member who tests positive prefers privacy? 2 What if a patientlies to his family members about his test results, telling them that he is negative for a serious illness when in fact he is positive (a result that puts his daughters at risk)?Extended family members continue to come to the clinician for testing, mentioning their relief at their relatives negative test results. What should the clinician do? What about the family acrimony that occurs when one person who tested positive for a colon cancer mutation pressures other family members to be tested before the re-search protocol ends, and along with it, their opportunity for free testing? Or thecouple who disagrees about whether their asymptomatic child should be tested? Or a wife who wants her husband to be tested for Huntington disease before he is ready,now that his mother has been diagnosed? Increasingly, geneticists and their patientsview psychotherapy as a place to consider these dilemmas.

Suzanne Miller (1995) conducted a program of research that studied how people

cope with testing and genetic information. She described two types of coping styles inresponse to health information: monitors, who scan for and amplify threatening cues,and blunters, who minimize or avoid threatening cues. 3 Monitoring behavior occurswhen people feel anxious and vulnerable to disease. They seek information in responseto the threat, with a danger of becoming overwhelmed. Blunting behavior occurs whenpeople minimize or deny risk, such that they rarely seek genetic information. The manwho lied about his positive test for the colon cancer gene had a blunting style of coping.People using this coping style may minimize to the point that they never seek testing.The implications for family consultation are that people with a monitoring coping style benet from targeted information and support. Family members who have no

2 See Imber-Black (1993) for a discussion of secrets vs. privacy.3 Because people may use different coping styles in different situations, it may be more useful to

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genetic links, such as a spouse, may be especially useful in recording important in-formation during genetic counseling and in providing support to decrease anxiety intheir loved one. People using a blunting coping style, on the other hand, mayrequire confrontation. What is the expected outcome if prevention or intervention

does not occur? With blunting, genetic and nongenetic family members may helpincrease the patients concerns, confront their denial, and support them in attending to screening, testing, or prevention. Some families tend toward a blunting style of coping with health information, others toward a monitoring style, and many are a mixof monitoring and blunting. Healthy individual and family functioning occurs whenthey can pay appropriate attention to health risk and illness concerns and stillmaintain perspective so that these concerns do not entirely organize ones life or re-lationships.

Given the paucity of family systems research about genetic conditions and genetictesting, clinical description is essential for stimulating theory, innovative interven-

tion, and hypothesis-driven research. The remainder of this article, based on myclinical experience, reports aspects of patients and families struggles with geneticproblems that are particularly relevant to family therapists. This work includes in-dividually focused cognitive-behavioral stress reduction and decision-making, trans-generational and family-of-origin work, marital therapy, sibling-focused familytherapy, group and extended family psychoeducation, healthcare team collaboration,and ethics consultation. It is organized around the clinical themes that are prominentacross cases, each illustrated with a particular family.

THE UNEXPECTED EFFECTS OF NEW TECHNOLOGYON FAMILY RELATIONSHIPS:A Psychoeducational Group for WomenWhoTested Positive for BRCA 1/2 Mutations

My rst experience working with the New Genetics occurred when Peter Rowley,M.D., a medical geneticist at University of Rochester Medical Center, came to myofce in the Department of Psychiatry. He introduced himself and said that he hadconducted a study testing high-risk women for the breast cancer (BRCA) 1/2 muta-tions. A year after the study was completed, many of the women who tested positivefor the mutation were in touch with him and still distressed. Is there anything youcould do for them? he asked.

First, my family therapy colleague Jenny Speice and I reviewed the literature re-garding post-testing services and found that there was none. We both had experience,however, with new technologies that depend on family members sharing biologicmaterial, like bone marrow transplantation or within-family gamete donations for in-vitro fertilization. The psychosocial and interpersonal effects of these experiences, likewith genetic testing, are yet to be systematically studied in any depth. However,clinical experience yields some themes regarding family dynamics that are relevant topatients with concerns about genetic conditions and genetic testing. The need to nd a biological match in bone marrow transplantation can bring together family memberswho are cut off from or in conict with the family member who needs the transplant.This circumstance can be painful, but also offers opportunities for emotional andphysical healing. Sharing gametes for in-vitro fertilization or articial inseminationallows the patient more choice in terms of which family members (or friends) might be

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becomes prominent. With the advent of many more genetic tests, all of these proce-dures at the cutting edge of medical science require thinking through what it does anddoes not mean to share genetic material (biologically, emotionally, and relationally).

Drawing on this related experience, we developed a 6-week systemically oriented

psychoeducational group for these women (McDaniel & Speice, 2001; Speice,McDaniel, Rowley, & Loader, 2002). The group was composed of 9 Caucasian women,including 2 sisters and 1 woman and her niece. They ranged in age from 32 to 60. Sixalready had survived cancer. The format of the groups was similar to psychoeduca-tional groups that we and others conduct for patients with chronic illness (Gonzalez &Steinglass, 2002). The rst 15 minutes of each group was spent with Dr. Rowley andthe genetic counselor, Starlene Loader, answering the womens questions and com-municating any new information about the gene, the disease, or its treatment. Thenext 75 minutes were spent on topics developed by the women themselves in the rstsession, which included (1) family reactions to testing F their partners, their children,

and their extended families, (2) disclosureF

who in the family is also at risk, who totell and when, (3) condentiality with insurers and the workplace, (4) their ownemotional reactions and coping strategies, (5) body image, and (6) relationships withhealth professionals.

The sessions were emotionally intense. 4 The women were initially hesitant, butquickly bonded with each other as they discovered their shared experiences and feltunderstood, many for the rst time. There were many powerful and recurring issues,such as spouses who distanced, or children who became angry at their own potentialvulnerability. One woman, Mary, was quite distressed at the conict and emotionalcut-off that occurred when, after her urging, her adult son tested positive for both theBRCA1 and BRCA2 gene mutations (Loader & Rowley, 1998). Her sons wife Linda said, Now when I look at my daughters I see death on their faces. Im angry atwhat youve done to our future. (See Figure 1 for a sample genogram from thisgroup.) Yet, most of the women in the group had taken prophylactic measures, such aspreventive mastectomies, that they believe will prolong their lives. The woman whoseson quit talking to her said, Im glad I had the testing because its education thatskeeping me alive. For me, its important, but now I feel guilty that I pushed so hardwith my kids.

The women in our group were functioning well in their lives. Given all the breastcancer in their families, they expected to have the mutation. They all coped withmonitoring behavior, gathering information to decrease anxiety and inform treat-ment. They all received excellent pre-test counseling from a genetics counselor.However, 100% of these women said that they vastly underestimated what it wouldmean to them to know that they are positive for BRCA1 or BRCA2 mutations. Thegroup was a place to nd comfort with others who understand and share their status,and to process the unexpected.

The unexpected impact of genetic testing on family relationships is a theme acrossclinical examples reported in this article. The resulting affect F whether guilt, anger,or relief F draws on previous individual and family coping styles while also chal-lenging the family to develop new responses to new problems.

4 All examples in this article are drawn from actual cases, but aspects of the cases are changed to

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THE TRANSGENERATIONAL EFFECTS OF FAMILIAL ILLNESS

An Example of a Family with Myotonic Dystrophy

The psychosocial dilemmas of families with traditional genetic disorders are com-pelling and difcult given the inevitability of illness once one has the mutation. Once a person has the mutation, the chances of passing it on to ones children are 1 in 2. Theexperience taps into a familys decision-making style and basic belief system aboutspiritual issues and why events happen as they do.

A man with myotonic dystrophy 5 was referred by his neurologist because of maritalproblems related to the wifes caregiver burden and the husbands denial of his dis-ability (McDaniel, Johnson, & Sears, 2004). As the husband in an upper-middle-classcouple, Bob had been a community leader prior to the onset of his illness and disa-bility. It was clear at intake that his wife Margaret was enraged with Bob because hecould no longer take care of her. Their informal marriage contract had to be rewritten,and now Margaret was the caregiver. Within several sessions, an ugly secret came out:Margaret had beaten her disabled husband in the middle of the night on ve occasionsover the past year. I immediately involved the couples four adult children, who cre-ated a safety plan for their parents that involved a separation until Margaret coulddevelop alternative ways of expressing her anger and despair.

Managing anger . Unpacking the dynamics that led to the intensity of this marital

struggle, the familial nature of the illness soon emerged. Bob did not know that he had

F IGURE 1 Psychoeducation Group Member

5 Myotonic dystrophy is an autosomal-dominant multisystem disorder characterized by progres-

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myotonic dystrophy until well after their children were born (see genogram, Figure 2).Once his mother and brother were diagnosed, he wondered if he was next. He was. After his own diagnosis, the couple faced the possibility that their children were alsoaffected. Each had a 50-50 chance of having the illness. Like a few single-gene dis-orders, this illness may develop at an earlier age in succeeding generations. AlthoughBobs mother had developed a mild form in her old age, he and his brother developed a fairly debilitating form by middle age. Two of his children were symptomatic by ad-olescence. By the time they were screened, two tested positive and two negative. Bobsguilt and Margarets rage about the illness, their roles, and their childrens healthwere palpable.

Managing ambivalence . Testing positive for a single-gene disorder such as myotonicdystrophy means that one will get the disease some time in the future. Bob was testedwhile seeing a psychologist for anxiety over 20 years ago. The psychologist suggestedtesting after determining that Bobs anxiety was related to worry about his motherand brother having myotonic dystrophy, and what that may mean for him. Bobs re-action to testing exemplies the contradictory, ambivalent reactions of many people tothe possibility of knowing something about their genetic fate. 6 His wife rst told methat Bob did not want to be tested.

Margaret: He didnt want to know. It was [the psychologist] who made him . . . who said,Go.

Bob: I dont want to know whats going on down the road . . .

Dr. M: Uh huh. But you took his advice . . .

Bob: You know, today is a good day . . . Im going to [focus on and] enjoy today.

F IGURE 2 A Family with Myotonic Dystrophy

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The dialogue quoted here and elsewhere has been taken from videotapes of these family in-terviews. The patients have given permission for the tapes and dialogue to be used for educationalpurposes. However, the names and identifying information have been changed to protect their

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Although he rst agreed with Margarets description, less than a minute later, Bobwas adamant that people like him do need to be tested.

Dr. M: Is there any reason you think that it makes sense for people not to get tested?

Bob: You gotta know.Margaret: Its not a bad test.

Bob: The symptoms will tell you . . . As [the illness] gets worse, anybody with any kind of brains now knows that if it gets worse and worse, you got to nd out what it is. And, cansomething be done about it?

Dr. M: Sure.

Bob: Some diseases can be xed. This cant.

Dr. M: What about that period for you or for your children when you knew that you had thedamaged gene, but you really werent very symptomatic? Was it useful still for you to knowduring that period, and why?

Bob: I suppose we had to know, to have some sort of an understanding that this thing may progress. So you are not surprised. You are disappointed and sad, but you are notsurprised.

Dr. M: Do you think you lived any differently knowing that?

Margaret: No. Better I say . . . Instead of worrying. Also if your children have it, you want tomake sure they know because they cannot have a child.

Bob: We didnt know [when we had our children]. We didnt know.

Margaret: So I say, Get tested!

Managing guilt . Guilt over passing on a bad gene to children is one of the mostpowerful reactions of people with genetic conditions. An interview with Bob andMargarets daughter Diana, who tested positive, revealed knowledge of her fathersguilt. At 16, Diana was the rst to become concerned that she too had the illnessbecause of weakness she was experiencing in her hands. Her mother denied that itcould be true, but nally her father insisted that she be tested. Diana described thehuge amounts of guilt her father felt for passing on the mutation to his two

youngest children. She did not blame her father.

He didnt know he had it. If he had stopped after having two children, none of his childrenwould have had it . . . When I told him I tested positive, he said, Well, Im still glad you wereborn. It was not his fault.

Many geneticists now recommend that children under 18 not be tested for geneticillness unless they are symptomatic, because it is felt that they cannot truly give in-formed consent. Diana was already symptomatic at 16 when she was tested, as was herbrother Dan.

The meaning of the illness . Psychotherapy involves understanding and working withthe meaning of events in peoples lives. The answer to the question Why me? (or Why

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these questions. The answers can differ within one family. For Bob, the answer to whyhe has myotonic dystrophy involved a struggle with his religious beliefs.

Dr. M: Why do you think you got the genetic mutation? Do you have personal theoriesabout it?

Bob: Well, um. You know some people get very angry at God.

Dr. M: Uh huh.

Bob: And I wonder, Well my God, have I lived that sinful a life? Then you go through thesephases of bargaining and realize that God didnt do it to me; he allowed it to happen. Maybe,this is my route to heaven. If I offer this up, maybe I will go straight in there, without anystops.

Bobs son, Tim, a mental health professional, had a purely scientific answer.

Tim: To me, the fact that Diana and Dan got the illness is just blind random chance and hasno other special significance beyond that.

Bobs daughters, Marcia and Diana, believed that it has something to do with an-gels.

Diana: My sister, Marcia, read a book about angels and said that we decided that before . . . wechose it.

Dr. M: You and Dan?

Diana: Yeah, before you are born, you decide Im going to take this on, Im going tocarry this cross, and you choose it for yourself. [To her older brother Tim:] And you didnt

choose it!Tim responded to this playful challenge from his sister by describing the anger he

feels over his family members illness, and the survivor guilt he lives with that iscommon for those who do not test positive.

Mating and childbearing . Genetic testing and the possibility of knowing about in-creased risk or inevitable illness can have a profound effect on decisions about mating and childbearing. Margaret described her own heartache as she watched Diana, mybeautiful daughter, have trouble when her boyfriends found out that she testedpositive. Diana was engaged once, and her ance broke it off when he found out about

her future illness. When Diana became engaged to her now-husband Art, Margaretcalled the neurologist and asked him to write a letter to Art telling him that the illnesswould not be that bad. The neurologist declined, but the situation speaks to thechallenges involved in having test information about single-gene disorders. Art did notneed the letter. These were his thoughts.

Dr. M: I wonder what that was like for you, Art? Could you talk a little bit about that?

Art: When [Diana] originally told me? You know, Id met her father before.

Dr. M: Uh huh.

Art: And she told me that he had myotonic dystrophy. So, you know I accepted it and nothing was thought of, you know. And then it wasnt until about 5 or 6 months after we met and westarted getting serious. It was only about 3 months after we met that we actually started

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Diana: Soon as I heard that, I said, Oh, better tell him.

Art: So about 6 months into the relationship, she told me about this and she was all nervous.

Diana: It was terrifying because I was afraid that he was going to say I love you, but . . .because that had happened to me before.

Dr. M: The Litmus test of character, huh?

Art: On my fathers side, there is deafness on his side of his family. So it is just kind of, youknow, its nothing. You just come to accept the aws in people.

Art relates myotonic dystrophy to the only experience of a health challenge in hisfamily, deafness, despite the difference in disability and mortality. Genetic informa-tion is often mapped onto a family template of historical illness experience that canshape an individuals response to a present-day illness. Illness-focused family historyand genograms reveal these templates, facilitate assessment about coping, and inform

treatment strategies.Next, I asked Diana the extent to which knowledge of the mutation organizes herlife. She said that some days when something bad happens, it is almost impossible notto blame the illness, regardless of whether it is related. Other days, she can focus onunrelated aspects of her life.

At the time of their interview, Diana and Art were discussing having a child. Diana talked about how complicated that is given her genetic illness. She had spent time onthe Internet and the telephone looking for clinics that would do preimplantation di-agnosis so they could select an embryo without the myotonic dystrophy gene. 7

Across illnesses, for differing reasons, some patients want genetic information,some do not. At either extreme, some people believe that they can control their biol-ogy; others prefer to leave it up to fate. When asymptomatic individuals decide topursue genetic testing, the timing of the testing often coincides with developmentalchanges in the life of a family. A death in the family, a decision to marry, or a decisionto have a child can produce a urry of questions about family health history, questionsthat may lead to genetic testing.

TO TESTOR NOT TO TEST

Examples of Familial Breast Cancer

The meaning of genetic testing for multifactorial diseases such as familial breastcancer is still being dened. Many women struggle with whether to be tested if at leasttwo rst-degree relatives have had breast cancer. What does it mean to be at increasedrisk? Some of these women wish to be tested but, like a recent patient, Jeanine, are notconducting more basic surveillance, like self-exams or mammograms. Genetic illnessis not a problem in which data or reason alone will produce decisions. Althoughblunting behavior may result in avoidance of information or intervention, monitoring behaviors may result in patients becoming overwhelmed with anxiety associated withdisease information, and at some point, become immobilized or shut down. Severalstudies have demonstrated that psychological distress can lead to avoidance of cancer

surveillance behaviors or screening (Kash, Holland, Halper, & Miller, 1992). For ex-7 For couples for whom pregnancy termination is acceptable, prenatal diagnosis with amnio-

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ample, women who test positive for the BRCA1/2 mutations are at increased risk forovarian cancer. Even so, only 15% of these women have the recommended ovariancancer screening (Lerman et al., 2000).

Jeanines family had a history of breast cancer. She was articulate in telling me

early on that she does not do breast self-exams, and why. Jeanine: I really do not do the kind of surveillance that I know I should be doing. I dont wantto nd something bad, so . . .

Dr. M: So. . . . why look?

Jeanine: Which makes totally no sense. Intellectually, it is totally irrational. I know that itsirrational. But that is the emotional experience. I dont want to know, so Im not going to golooking. And the other piece of it for me has been some anger, I think, and some deance.Some sort of deant kind of acting out against the anger I feel at having to deal with thesituation.

Jeanine exemplies the blunting style of coping. She was convinced that becauseshe does not look like her mother who died of breast cancer, she was unlikely to havean inherited genetic predisposition toward the illness. As a result, she was disinclinedto perform any surveillance activities; she found the thought of early mammograms orbreast self-exams at odds with her self-image. A family therapy session with Jeanineand her sister, who preferred a monitoring style, helped make this conversation partof their relationship. Delaying any decision about testing, they decided to go togetherfor early baseline mammograms and to check in with each other about breast self-exams.

A monitoring style of coping is more likely to lead one to consider genetic testing. Another patient, Sharon, rst considered genetic testing at 22 during a physical withher internist a year after her mother had died of breast cancer (McDaniel, in press). When her physician heard that Sharons mothers sister also had breast cancer at 30,the internist suggested genetic testing (see Figure 3). Looking back on the experience,Sharon said that she was still grieving her mothers death and was frankly just too young to tolerate the anxiety that would accompany genetic testing (Its really out of season for me, she said). Sharon did have two consultations with genetic counselorsover a 5-year period. Typically a monitor in coping style, the complexity of geneticinformation threatened to overwhelm Sharon. She read journal articles, absorbed thecontradictory results, and pondered the possibilities.

Sharon: The question I have asked myself is, would I actually be reassured by a negativeresult? And I am not sure that I would. Plus, I also know that a small percentage of breastcancers are actually, you know, linked to those two gene mutations.

Dr. M: So it feels sort of like you dodged one bullet, or two bullets.

Sharon: Right . . . But theres a whole ring squad out there.

Intensive psychotherapy came when Sharon was considering marrying and having her rst child. The focus was on deciding about testing and increasing her surveillancebehaviors. Eventually, she and her ance decided that a test outcome would not affecttheir decision to have children, so they decided to wait until their family was completebefore considering the question again. Surveillance, however, was another matter.

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mothers death, all kinds of behavioral techniques failed to help her do what she saidshe wanted to do, which is to perform regular breast self-exams. Eventually, working with her ance , the Sharon developed a process whereby they put playful stickers on a calendar once a month on days that he needs to ask if she completed the exam. Thisprocess seemed to be enough to break the anxious cycle, using Sharons commitmentto her family to overpower her fear of becoming ill.

THE EFFECT OF FAMILY HISTORY ON DECISIONS ABOUTGENETIC TESTING

A Biopsychosocial Consultation for a Family with Hereditary Nonpolyposis ColorectalCancer (HNPCC)

Family history and premorbid family dynamics drive many decisions related togenetic testing and treatment. The complexity of the interactions explains the need

for a family therapist to be part of a genetic healthcare team. Taking a genogram(along with the geneticists use of what they term a pedigree 8 ) and a careful familyhistory helps the family and other professionals consider decisions about screening and testing, and how the family wishes to convey the test results and to whom(McGoldrick, Gerson, & Shellenberger, 1999; Peters et al., 2004).

In the past 2 years, Jenny Speice and I, with medical geneticist Peter Rowley, haveconducted large family sessions with as many as 37 members in one family, ranging inage from 15 to 75. These family members rst came to hear about the HNPCC gene,what it means, and whether they should be tested. Early on, after lectures about themutation and the potential outcomes of testing from the geneticist and the genetics

counselor, the sessions focused on the individual and family coping styles that have

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F IGURE 3 A Young Woman Considers Genetic Testing for BRCA 1/2

8 The pedigree is a family diagram used by geneticists and genetics counselors. It is drawn like a

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evolved in a family with an apparent history of genetic illness, and the decisions thatface those family members who have yet to be sick or tested.

Genetic testing and secrets . One of the rst crises in the family came when, after therst session, the matriarch of the family took aside one of her younger daughters,Maria, who thought that she was the rst child of her mothers second marriage (seeFigure 4). Her mother told her that was not so, that she was the youngest child of theman who carried the HNPCC gene. This paternity had been a secret because of thetiming of the second marriage and the mothers desire to move on and cement hersecond marriage. The mother rightly saw that this secret was now dangerous for herdaughter, who thought that she was not at risk for HNPCC when in fact she was.Unforeseen results regarding paternity is one of the psychosocial risks of genetictesting. This daughter entered psychotherapy because she had much more to absorbthan just a positive test for HNPCC.

Beyond the issue of secrets, this family has the usual range of defenses, from in-formation-seeking, interventionist monitoring behavior to avoidant blunting behavior(including those who did not attend the meeting). All family members agreed that theyas individuals had coped successfully with having cancer, and with being at increasedrisk for future cancers. The survival of so many members of the family resulted in a certain condence in this regard. Like the family with myotonic dystrophy, whatcauses the most extreme distress in this family is the idea that they may pass along anincreased risk for cancer to their children. Also like the myotonic dystrophy family, a connection between experiencing the physical illness and reexperiencing memories of physical abuse emerged early in discussing the possibility of testing. The father in thisfamily of eight children died at age 34 of colon cancer. He was a traveling salesman andoften drunk when at home. His children remembered the beatings they received whenhe was inebriated. Using a blunting style of coping with illness, by the time he agreedto go to the doctor, he was in the terminal stages of his illness.

Family conict . Discussion of genetic testing caused a schism amongst the children,all adults in their late 40s and 50s. One group advocated strongly for testing, saying that they must avoid their fathers mistakes and gather as much health information aspossible. Another group believed that testing would stir up the past and was notnecessary if they continued appropriate surveillance behaviors. The family got intoheated exchanges about the effect of these decisions on each other, their children, and

F IGURE 4 A Family with Hereditary Non-Polyposis Colon Cancer

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through issues related to anger, abuse, decision-making, and family communication.The genetic testing experience opened many other unresolved emotional and inter-personal issues that became available for resolution in family therapy.

THE NEED FORCOMMUNICATION AND TEAMWORK

A Couple Confronting Huntington Disease

Any weak points in family communication are likely to be tested under the strain of learning of a genetic condition and the potential for genetic testing. Family memberswho are relatively disengaged may nd themselves needing to have more communi-cation than is typical. Family members who are relatively involved may nd them-selves distancing or in conict in atypical ways (Sobel & Cowan, 2000). Just trying todecide about whether to have the test (as occurred with Sharon in the breast cancerexample) can take many years and many conversations with selected family members

(and professionals). Marital or family issues that have lain dormant, not needing to beaddressed, may emerge as an individual considers testing or treatment.

Jill, 36 and the wife of the man whose family had a history of Huntington disease,rst presented alone, requesting support and couples therapy. She was referred by thecouples internist. Her husband Joe, 38, was already in therapy with another thera-pist. Jill was very sad as she told of her love for her husband and her fears for hishealth. Jill and Joe had two children, a daughter age 12 and a son age 9 (see Figure 5). As it happened, both were adopted after a long and painful period of infertility. When Joes mother was diagnosed with Huntington disease, Jill said for the rst time thatthey both felt that the infertility was a blessing. (At least we dont have to worry

about the children having the disease, she said.) Professional communication . After the rst session, I contacted Joes internist, whomI know fairly well. She admitted that she had been very positive with the couple about Joes chances to escape Huntington disease. When I asked her on what this was based,she said sheepishly, Well, the odds are with him . . . and I just really dont want him tohave it. I said that I hoped she was right, and she assured me that she would shareany future information in a straightforward way. (Physicians, like therapists, havetheir biases based on their own beliefs and family history.) The internist was clearlyrelieved to have both patients in therapy, and we agreed to work together as theymoved toward a decision on testing.

Marital communication . In the individual session with Jill, she wept as she spokeabout being hypervigilant and then annoyed whenever Joes behavior was out of line,from twitching while asleep to forgetting his keys. I ask myself every time, Are thesenormal husband/wife issues, or does Joe have the disease? She also worried aboutwhether she was up to the task of running the family alone if she had to. Testing wouldprovide information to inform the answers to these questions, but after several in-dividual and couples sessions, Jill and Joe came to the conclusion that although theyhave a loving and committed relationship, they wanted to strengthen their maritalcommunication over the next year before going through testing. Coordinating treat-ment with Joes individual therapist, the couples work has focused on Joes tendencyto avoid conict and Jills need to be in control. After multiple sessions and homework

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manage strong affect, Joe was tested. He tested negative. Both partners were relieved,though Joe did express some survivor guilt and concern about his brother who saidthat he did not want to be tested. It took several months for Jill to return to seeing herhusband as whole, in her words. She said that the experience had changed them,but more for the better than she expected.

This couple was able to use the threat of a genetic condition to improve their abilityto tolerate anger and grief, and to communicate about topics that they had previouslyavoided. They felt ready by the time they decided for Joe to be tested. During themonths before testing, the threat of the familial illness can affect a persons identityand the way that they are seen by intimates. Jill especially struggled with the guilt shefelt over seeing Joe as different than before. Some pediatric literature has docu-mented concerns about parents having difculty viewing their child as healthy, evenafter the child tests negative, once the genetic concern has been raised (Marteau et al.,1992). Incorporating issues of health, illness, and risk into a persons identity in a waythat strengthens a sense of agency and communion is an important task for medicalfamily therapy (McDaniel, Hepworth, & Doherty, 1992).

THE GENETIC HEALTHCARE TEAMInterdisciplinary collaboration is critical for the comprehensive care of genetic

Joe

38

HD

Jill

36

912

HD

?HD

?HD

*

F IGURE 5 A Couple Facing Huntington Disease

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the geneticist, the genetics counselor, the surgeon or other specialist who treats theillness, and the family therapist. Rolland (Rolland, 1999; Rolland & Williams, in press)describes four nonsymptomatic phases for people who test positive for the geneticmutation: (1) a precrisis phase, when the patient is unaware of a potential problem or

not yet actively engaged in consideration of testing; (2) two crisis phases F one whentesting is actively being considered, and the other during and just after testing; and (3)a long-term adaptation phase that involves living with the information before theillness does or does not develop. Systemic psychotherapy can be useful in the crisis,nonsymptomatic, and symptomatic phases. Therapy in the pretest crisis phase canaugment the initial genetic counseling to explore decision-making in more complexsituations, and then provide support during the stressful period of testing. Aftertesting, the primary care clinician provides long-term medical follow-up, while familytherapists can provide long-term psychosocial follow-up to patients facing thesechallenges.

Like with Jill and Joes internist, the consultation and support provided by a familytherapist on the genetic healthcare team can be important to the professional func-tioning and personal adjustment of the primary care clinicians, geneticists, geneticcounselors, and specialists themselves, people who deal with the difcult issues of familial illness on a daily basis. These health professionals manage their patientsanxiety, and then have their own personal and family health histories to deal with aswell. Sharon, who was trying to decide about BRCA1/2 testing, discovered this withher physician.

Sharon: The person that I am seeing currently, actually has her own family history. It isalmost exactly the same as mine.

Dr. M: How did you nd that person?

Sharon: Isnt that interesting? She told me the rst visit because I brought it up. I saidLook, I have this history, I have these concerns. This is where I am in the process of trying to gure out what to do about it. And she said, Oh yeah, I have almost the same exactsituation in my family . . .

None of us is immune. We all have genetic mutations; most of us are just unaware of which ones.

RECOMMENDATIONS

While scientific journals report new technological ndings about genomic scienceweekly, it is equally important to study the psychological and interpersonal aspects of these illnesses, and their screening and testing. As family therapists, we have theopportunity to participate in developing innovative approaches to help patients withpsychological and interpersonal challenges at the cutting edge of biological science.

Drawing from the clinical experience described above, the following are recom-mendations for family therapists who work with people who may have a geneticdisorder.

Professional Collaboration

Collaborate with the geneticist and genetics counselor, and the primary careprofessional from the beginning The former will manage the genetic screening/

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These issues require further systematic research. Clinically, we need to describeand understand the psychological and interpersonal effects of familial illness, andresponses of family members to new technologies that allow prediction of the likeli-hood of an illness occurrence. We need to know which interventions are effective with

which conditions at what points in the process of learning about genetic risk. Familytherapy has an opportunity to humanize these new healthcare technologies and to ndways to support and increase patients and families sense of agency and communionas we all experience the results of these scientific advances.

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The Psychotherapy of Genetics

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