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- Family stories
- Stories, risk perception and the use of heuristics
Abstract The practice of medicine will increasingly be medicine of the family rather than the traditional physician/patient dyad, especially where a genetic condition is involved. This study explores how clients from suspected hereditary breast and ovarian cancer (HBOC) families seeking cancer genetics risk counselling are influenced by family stories and the use of heuristics (inferential shortcuts used to make sense of complicated information) in interpreting and applying genetic information they receive, and suggests ways in which genetic counsellors can integrate family context into their traditional counselling practices. We conducted an exploratory, qualitative study at a major clinical and research cancer centre in the United Kingdom from January to June 2000 which was reviewed by the hospital clinical research and ethics committees. Twenty-one semi-structured, in-depth interviews were conducted using a purposive sample of women coming to the cancer genetics clinic for the first time, supplemented by five months of clinical observation at weekly clinics. In addition to many family stories based on the number and outcomes of the cancers in their families, we noted: (1) fragments of stories, (2) secret stories, (3) emerging explanations and (4) misconceptions. We did not find widespread intergenerational family myths. The women used three main heuristics in interpreting their breast/ovarian cancer risk: (1) representativeness, (2) availability and (3) illusion of control, as well as what Kahneman refers to as the Peak and End rule. Recent psychological research indicates that illusions of control may have positive affects on both physical and mental health. This may pose a future ethical issue for genetic counsellors in determining how to balance the benefit of positive illusions with the delivery of statistical probabilities of risk.
- Top of page
- Family stories
- Stories, risk perception and the use of heuristics
The practice of medicine will increasingly be medicine of the family instead of the traditional biomedical model based on a physician/patient dyad as additional genes associated with inheritance of specific diseases are identified (Finkler 2001a). This medicalisation of kinship makes medical decisions a family matter. It will become more difficult for individuals to make medical decisions independent of their families, especially regarding genetic testing for disease, e.g. Hereditary Breast/Ovarian Cancer (HBOC) (Finkler 2001a). Values and beliefs vary within and across families (Beavers and Hampson 1993, Epstein et al. 1993). These can be significant mediating variables as a client/patient comes to a cancer genetics risk clinic with a social history and social context as well as a genetic one (DeMarco, Peshkin and Brogan 2001, Foster et al. 2002).
Individuals and families differ in their decisions about altering their knowledge of the condition, their perceptions and understandings being based on their own experience and idiosyncratic beliefs about the disease. Typically, a family's feelings about the illness are intertwined with its moral and religious beliefs, with family ideologies about the disease process being particularly strong, since the nature of genetic conditions means that the family view of the disease has been handed down and evolved over generations (Street and Soldan 1998: 221).
Genetic counselling information, whether accurately or inaccurately transmitted, is disseminated through families, and family members frequently assign different meanings to it (Kenen et al. 2003a). Some families understand inheritance as a collection of characteristics that are joined together and are passed between generations. Thus, those who share a physical resemblance, or personality characteristic, with a relative who developed a disorder that runs in the family are also thought to be most likely to develop the same disorder (Davies 1996, Richards 1996, Green et al. 1997). Others refuse to accept the scientific explanation for inherited cancer in lieu of their family myth (Hoskins et al. 1995).
Individuals find it difficult to live with uncertainty, and have always sought explanations for disease and suffering in an attempt to impose order and meaning (Finkler 2001b, Kenen 1980). Uncertainty plays a large role in predicting risk for an inherited disease and individuals seek answers to ‘why’ and ‘how’. They want to know why some members of a family develop the disease and others do not, and how the gene mutations are transmitted from one generation to the next. Sometimes genetic counselling clients come to clinic with an existential understanding of risk based on their familial/cultural context. This perspective often leads to a mismatch between the way genetic information is presented by the counsellor and the way it is received by the client (Shiloh 1996).
Understanding the varying concepts of risk in society is important in understanding how individuals and families perceive risks (Beck 1992). There is no one correct definition of risk. Risk may be defined differently by lay people and experts, and each perspective makes sense from the perspective of the individuals involved (Otway and Wynne 1989). Women with family histories of breast/ovarian cancer also carry a cancer burden (Foster et al. 2002) which influences their perception of the risk they face.
Prospect theory and the use of heuristics
The way individuals perceive risk involves a complex and subjective process (Kahneman 1994). Prospect theory and the use of heuristics provide insights into why individuals do not always make what are usually considered to be rational decisions based on statistical probability (Kahneman and Tversky 1979, Tversky and Kahneman 1981). Prospect theory emphasises the way that an individual's decisions under uncertainty are influenced by their own evaluation of possible outcomes. These evaluations can differ from one individual to the next, and they can vary from one decision to the next, depending on experience and context (Kahneman and Tversky 1979). For example, a healthy woman from a family with a history of breast/ovarian cancer is likely to rely more heavily on her subjective feelings of gain and loss, rather than on statistical probability, when choosing health care and lifestyle options, all of which include some degree of uncertainty. Kahneman (1994) stresses that individuals tend to trust memories of past events to guide their choices about future outcomes. But these may not be good guidelines as they usually use an episode as a reference point instead of relying on the entire extended event which is likely to be a better representation of past experience. Furthermore, reference points can shift over time and therefore can be poor bases for decision-making (Fenton’O’Creevy and Soane 2000).
Other conditions affecting risk perception are the extent of fear associated with a possible outcome and the amount of control individuals have over an outcome (Slovic et al. 1980). These are extremely important factors in inherited breast/ovarian cancer families when a woman is trying to evaluate several options in terms of gain or loss.
Tversky and Kahneman (1981) also demonstrate that individuals use heuristics (inferential cognitive shortcuts) in order to place into perspective complex and upsetting knowledge and to simplify complicated decision-making. Why do people use these heuristics? Most individuals do not have the time, desire or ability to research thoroughly the complicated issues that may affect their lives adversely. They have to integrate the information in a way that makes sense to them in order to make a decision, and often use inferential rules to do so. These short cuts frequently worked reasonably well in the past and, therefore, offer some reassurance. When they provide accurate information, their use is beneficial to the individuals. If, however, the use of heuristics pervasively and systematically distorts perceptions of the situation, then they lead to less than optimal decision making that may be regretted later (Fenton-O’Creevy and Soane 2000).
Women from families with a history of breast/ovarian cancer face a great deal of uncertainty. First, they face the uncertainty as to whether, or when, they will develop one, or both, of these cancers. Secondly, they face the uncertainty surrounding the efficacy and risks associated with the options available to them e.g. regular breast and ovarian screening, prophylactic surgery or enrolling in clinical trials. Their choices can result in considerable physical and psychological morbidity or even life or death (Vogel 2000, Chang and Elledge 2001, Grann et al. 2002). Yet the amount of information they need to process is enormous and most of it is new and difficult. It is in just such circumstances that individuals tend to use cognitive shortcuts (heuristics) to prevent themselves from being overwhelmed by the situation.
Availability: The probability of an event is judged on the ease of recall (Tversky and Kahneman 1989, Marteau 1999). This refers to information that is likely to be either recent or dramatic and which stands out in índividuals’ minds regardless of the relevance to their own situation. Individuals tend to place greater weight on such information. For example, a woman might very quickly recollect that a close family member was recently diagnosed with breast/ovarian cancer, or remember seeing on television a story about a celebrity developing or dying of breast/ovarian cancer.
Representativeness: The probability of an event is judged by the degree to which it corresponds to a previous instance in the same category (Tversky and Kahneman 1989, Marteau 1999). Representativeness often refers to a stereotype – a perceived similarity between characteristics of the individual or the individual's situation and that of another individual's characteristics or situation. Individuals frequently have a poor understanding of Mendelian inheritance patterns and sometimes erroneously believe that they are at an especially high risk for developing an adult onset genetic condition that runs in the family because they resemble a relative who died of that disease (Richards 1996). In this study, many of the women felt that they would have the same fate as a close relative with breast/ovarian cancer i.e. if the relative died, so would they; if the relative survived and was doing well, so would they.
Illusion of control: The systematic attempts by individuals to control outcomes in circumstances where this is highly unlikely (O’Creevy and Soane 2000). When fear is great and control important, individuals persuade themselves that they have a high level of personal control over their own illness outcome, despite there being little evidence that these perceptions are valid. For example, a few of the women in this study believed that they could greatly reduce, or eliminate their risk of developing cancer due to a gene mutation by changes in life style and diet even though there was no evidence for this (Robertson 2000, Di Prospero et al. 2001).
While the concept of illusion of control has been widely discussed in business and economics, it has also, but to a lesser extent, been discussed for many years in the psycho-social literature (Langer 1975). Recently, the concept has been applied in studies of mental and physical health outcomes (Thompson et al. 1998, Toneatto 1999). Of particular interest is the psycho-social literature that suggests that even illusory control may exert a beneficial effect (Alloy and Clements 1992, Taylor and Armor 1996, Taylor et al. 2000).
In this paper, we report on the role family stories and the use of heuristics play in the way women from suspected HBOC families: (1) understand their risk in both existential and genetic terms and (2) choose the modalities they use in their attempt to control their risk, e.g. lifestyle and diet, breast and ovarian screening, genetic testing and prophylactic surgery. This is part of a larger research project whose primary aim was to understand more fully the roles that family communication patterns, significant others, family stories, family history and the use of heuristics play in the way clients from suspected HBOC families assign meaning to the genetic information they receive and the decisions they make. An analysis of family communication patterns and the concepts of chronic risk and chronic risk trajectories are discussed in separate papers (Kenen et al. 2003, Kenen et al. 2004).
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- Family stories
- Stories, risk perception and the use of heuristics
The family stories centred on the cancer history in the family and interpersonal relationships. We, however, did not find widespread intergenerational family myths or stories about ‘proneness’ for developing the inherited disorder based on resemblance to a relative, as discussed by Richards (1996). The stories we found were not self-contained or complete with a beginning, middle and an end. Instead the women told us about material that belonged in wider definitions of a story. We call these: story fragments, secret stories, emerging explanations, and misconceptions. These all contain the ingredients for the development of more comprehensive stories.
The fragments of stories were not deliberately hidden by relatives. They were about previous cases of breast/ovarian cancer in the family that the interviewees either did not know about until a family member recently developed breast/ovarian cancer or had been only fleetingly mentioned in the past. The secret stories were deliberately hidden because cancer was considered to be a stigma, or it was thought to be improper to discuss the topic publicly. Emerging stories developed through attempts by family members to understand the reasons that a particular family member developed the disease. The relatives sought more of an existential answer. Stories based on misconceptions usually arose from information derived from three sources: (1) the media, (2) family and friends, (3) health care professionals. At times, the women believed that they understood the information they were given in the cancer genetics risk clinic, but in fact misunderstood it and transmitted it erroneously. In some cases, these misconceptions substantially distorted either the woman's understanding of how mutations in the BRCA1 or BRCA2 genes are inherited, or the statistical probability associated with her risk. These errors can substantially colour the information told to family members. Because emerging stories are usually generated around seeking reasons for the occurrence of cancer in a specific family member, family members may incorporate misconceptions into support of explanations they originally favoured.
The women reported several vague and fragmented stories floating around their families. Nora and Ellie were just now making the connection between their own risk and these family stories because they were going for cancer genetics risk counselling. Nora's mother had developed ovarian cancer a few years earlier and so far she was well and had not had a recurrence. Nora and her parents lived on different continents, but despite the geographical distance, they were very close and news of the cancer came as quite a shock. The family started to piece together events that had happened years ago that they had not connected previously. Nora was beginning to take more seriously the possible future implications of the breast/ovarian cancer that was present in both her maternal and paternal lines:
Well, she sort of mentioned it [mother telling about grandmother's ovarian cancer], but its not something that one tends to worry about, especially when you’re young, you tend not to worry too much about things like that. My father's sister has had both her breasts removed over a period of about 20 years, so there was cancer, but because she recovered from it and she seemed to be fine, it's not something that we worried about (Nora, age 37, married, no children).
Ellie came from a large extended family, as well as a large nuclear family. Until recently, she was not aware that so many of her female relations had developed breast cancer in the past. Her family did not talk about cancer, did not have much information about specific details about the causes of death of various family members, and was previously unaware of the possible inherited propensity for breast/ovarian cancer. Ellie, who read a great deal about cancer, was amazed at her mother's ignorance:
I’ve known vaguely about one aunt, I knew she had cancer. I didn’t know what kind and somebody said it was lung cancer but it turned out that yes indeed, she had lung cancer, but her primary had been breast cancer. That I found out when I did the family history, when I went to talk to the family which is a very close family to our family, but nobody ever talked about. She had three sisters who also had breast cancer and bowel cancer. . . . I’d ask my mother and she would be talking about her husband's sisters that she’d known all her life and she’d just say, ‘Well, she just had general cancer. She died of cancer, it was everywhere’. She didn’t know whether it was breast cancer or cancer of the toe. She didn’t even know what her own mother died of. It was obvious she had cancer (Ellie, age 41, married, children).
There is a fine line between story fragments and secret stories. The difference is in the intent. Fragments of stories usually referred to events in the distant past that were infrequently talked about. Secret stories were deliberately hidden. In some of the families, members of the older generation knew about the cancer in their families but deliberately kept this information to themselves. Families seemed to hold cancer secrets fairly frequently and their ethnic or religious background did not appear to make a difference.
Evelyn first found out about the apparent history of cancer in the family, and her own possible increased risk, when her sister recently developed breast cancer. She heard a radio programme about Ashkenazi Jewish women and breast/ovarian cancer and decided to investigate further. Evelyn said that her mother felt that she was being blamed whenever Evelyn asked about her aunt's and grandmother's cancers. She said that her mother did not deal with unpleasant realities, but created fantasies instead:
I started making a tie-up with breast and ovarian in possibly my grandmother, then it was my aunt and the confirmation about my grandmother was pretty vague. . . . There was always a terrible feeling in my maternal family, but that was always around even before there was any acknowledgments that anybody had it or died from it or anything. It was there. . . . Well, I thought maybe they knew that my grandmother's was cancer. Nobody ever called it cancer. The nearest you’d get to information was a brain tumour (Evelyn, age 48, married, children).
Frances’ mother was a secret-keeper who did not believe that it was appropriate to talk to her children about family members who had died of cancer. She seemed to have handed this approach down to Frances’ sister who also did not want to talk about her breast cancer. Frances’ brother-in-law avoided the subject altogether and, if questioned, would respond that his wife would get better. Neither parent told their children that their mother was dying. The children came into their mother's hospital room one day and thought that she was sleeping, but she had died:
When my sister was ill. I told mum at home what it was. After this point she never talked about anybody else because you know at home in that generation, people get sick, they die and the kids weren’t supposed to know what they died from. Everything seemed to be hush, hush. Things shouldn’t get out of the family. I noticed that same treatment with my sister here that when she was diagnosed, she didn’t want anyone to know about it. The only two people who knew very early on were her husband and myself. I thought it's amazing how this can carry on within the family . . . (Frances, age 50, divorced, children).
Even when families understand that there may be an inherited pattern of breast/ovarian cancer in the family, members struggle with the idea that some of them will develop breast/ovarian cancer while others will not. For some individuals, a genetic explanation for a risk is not enough, so alternatively, more existential explanations for the cancer in the family may then coexist with the genetic explanation.
In Rachel's family, her cousins came up with different explanations, none of which proved satisfying or accepted by everyone as an emerging family story. Rachel's sister had died of breast cancer 18 years before when she was in her late thirties. She was a healthy, athletic woman and her cousins had found it difficult to accept her death. The family members went over and over again possible reasons for why she had developed breast cancer and died at such an early age. They created many different scenarios, but eventually realised that they never would find the answers they sought. But even though the death had occurred so long ago, Rachel still remembered most of the explanations:
We really don’t know the reason why some of us do and some of us don’t [get cancer]. We just think it is something inside us that is sparked off maybe by something. I often used to wonder with my sister. She was a very healthy girl. She was very tall, very slender, very athletic. She never had any illness in her, never, and woke up one morning with a lump in her breast. She lasted three years. . . . We have never understood why a healthy person wakes up one day and they’ve got a lump on their breast. I’ve never understood that. I’ve said, ‘Why, was it because of the baby, [who had died in utero several years before] maybe it poisoned her or she had a road accident? She had a shock. She ran somebody over. He never died and she had a dreadful shock’. The cousins will speak about this but at the end of it all they say, ‘We speak and speak, but we’re not going to come up with any answers’ (Rachel, age 57, married, children).
Ellie came from a large family where the family dynamics between siblings kept shifting over time. Many of the siblings became concerned about the control one sister exerted over the sister who was dying of breast cancer and severe conflict ensued. This conflict affected their relationships for a long time after the death of the sister, but during this period, the brothers and sisters who were still talking to each other kept looking for reasons why their sister died of breast cancer. Their explanations varied from bad luck, karma and bad blood to scientific, genetic explanations:
Some would say it's your karma, some would say the cards have been dealt, some would say it's a gene gone mad, some say it's life's tale. There's quite a few different views on that in my family. I’ve never had to put it in those terms before. . . . I think that most of my family believes that there is a predisposition because when you look at our family history. . . . There's so many that we all believe that that family somehow have had genes or bad blood or whatever and that it probably came from my father's side (Ellie, age 41, married, children).
Misconceptions were widespread (see Table 2). Inherited cancer is a very emotion-laden subject that affects an individual's ability to understand and remember difficult information. In addition, this material is frequently presented in technical language and often expressed in slightly different ways by the media, the medical profession, kin and friends. These misconceptions frequently occur when family members try to understand complicated material relating to inheritance patterns. They usually combine a misunderstanding with a grain of truth.
Table 2. Some confusions and misconceptions expressed by interviewees that may be incorporated into family stories
| 1.Males do not carry the breast cancer gene.|
| 2.Breast cancer gene can come from the paternal side, but only the women carry it.|
| 3.Breast cancer can be inherited through the paternal side, but the effect is not as strong as if it comes from the maternal side.|
| 4.In the general population, one out of three women will eventually die of breast cancer.|
| 5.Mutations ‘go in and out’ through the generations of their family.|
| 6.As you count down through the generations the chance of someone carrying the mutated breast cancer gene gets less and less (some women do not seem to understand that this is only the case when the mutated gene is not passed on in each generation).|
| 7.Breast cancer skips generations (some women seem to get confused between the expression of the gene and the gene itself skipping generations.)|
| 8.Not clear whether some women understand that stress reduction, eating well and exercise cannot change their inherited mutated gene.|
| 9.Lack of understanding about the effectiveness of ovarian screening.|
|10.Males in the family are vulnerable to cancer only in families where many males developed different kinds of cancer.|
|11.Genes are carried in the blood.|
|12.Some women think that they either carry ‘the bad gene’ or they do not carry ‘the bad gene’. There does not seem to be a realization that everyone carries the same gene, but not the same mutation or polymorphism.|
Trudy's mother had recovered well from breast cancer and Trudy was not very worried about her own risk. She said that she might have felt differently if her mother had died. She was not convinced that women who had a history of breast/ovarian were more likely to get cancer than those who did not. Trudy misunderstood the information she received in the genetic counselling session. She thought the risk of breast cancer, instead of all cancers, in women in the general population was one in three. Thus, she concluded:
I actually had a friend from Canada who has just had breast cancer and she hasn’t any family history of it, so I think you’re just as likely to get it whether it's in the family or not (Trudy , age 41, married, children).
Several of the women referred to blood when talking about genes. The women interviewed talked about bad blood being on one side of the family or that there was something transmitted in the blood. Blood seemed to be a synonym for heredity. Laura came from a family with many cases of different kinds of cancer. Many of her male cousins had developed cancer, so she did not think just in terms of the females in the family. She only had sons and was very concerned about passing something on to them. She was not very precise about what this something was or what she meant when she talked about a little bit of cancer:
I myself think there's something in the family blood flow that gives everyone this little bit of cancer (Laura, age 41, married, children).
Many of the women interviewed and observed in counselling sessions did not realise that males could be carriers of the breast cancer mutations, so some of them did not think it was important to inform their brothers or sons. Doris just thought about males in reference to male breast cancer, not as carriers who could pass the mutation along to future generations. She also did not understand that her sons, if they carried one of these mutations, might have a slightly higher risk than the general public of developing prostate or colon cancer. Doris only knows that men can sometimes develop breast cancer, but that it is very rare. She is passing on the common misconception that breast/ovarian cancer is only a worry for women and that men do not have to be concerned:
If I had daughters, I would have it done [genetic test] no matter what. I know that sounds silly because I know men can get breast cancer, but I’m just talking about realistically it's normally a woman so if I had daughters, yes, I would definitely have it done because if I could prevent them, I would. But I’ve got sons so I think I’m going to leave it all alone (Doris, age 49, married, children).
Kyla's comprehension of her risk was quite confused. She learned in her genetic counselling session a great deal of information that was new to her, and she was still trying to process it. She understood most of the general ideas. But the specifics escaped her, and she tended to mix up different parts of the genetic information that she was given about her risk:
I know it gets less as it goes down the family, the more clearer you are as it goes down further and further, and I understand that it gets less and less. I think that the whole family has got a right to know the situation. . . . I would do it [get tested] for my sons’ children if they had girls (Kyla, age 48, married, children).
It was difficult to tell from the interviews how widespread these misconceptions were in the families. However, misunderstandings about the male as a carrier of a genetic mutation for breast/ovarian cancer that could be passed on to both sons and daughters came up frequently both in the interviews and observations of clinic sessions.
Stories can be viewed in many ways. Looking at types of stories, as we did above, can unveil themes that otherwise might have remained hidden, e.g. the prevalence and types of misconceptions, extent of information about familial cancer that is unknown to many family members. Stories can also reveal non-rational assumptions the women interviewed relied on:
Research indicates that people are myopic in their decisions, may lack skill in predicting their future tastes, and can be led to erroneous choices by fallible memory and incorrect evaluation of past experience (Kahneman, 1994: 18).
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- Family stories
- Stories, risk perception and the use of heuristics
Information received in a genetics counselling session is not processed in a vacuum, but is superimposed on pre-existing perceptions (Marteau 1999). The information is then filtered through a lens incorporating both the new genetic information about the increased risk for a late onset genetic disease with prior beliefs, feelings and experiences. In this study, the women used their family history and family experiences with breast/ovarian cancer as their reference points. It was the social context of the family that was important, and the women used their family history in evaluating their own risk for developing breast/ovarian cancer and in deciding what to do about their risk. While the women embedded their perception of their risk in their perceptions of family experiences, they also sought ways to control their risk.
Most of the women interviewed focused on lifestyle modifications and breast/ovarian screening as means of control. But most did not accept the efficacy of lifestyle modifications as unstintingly as did the women in Ryan and Skinner's study (1999). They seemed to be more sanguine about the ability of regular mammography and ovarian screening to save their lives. They did not appear to realise, or want to dwell on the fact, that there was still debate in the health care community about whether existing screening techniques actually provided life-saving benefits (Laloo et al. 1998, Lerner 1999, Croyle and Lerman 1999, Baum 2002). They also did not seem to realise that early detection does not automatically mean an improved prognosis and increased survival time (Lerner 1999, Press, Fishman and Koenig 2000). Being optimistic about screening made them feel much better about their futures.
Several of Tversky and Kahneman's conclusions (1981, 1989) are relevant to some of our findings. Kahneman (1994), for example, found that individuals are not very skillful in accurately perceiving their future satisfaction with outcomes they choose, or in being accurately able to evaluate past experience in a rational way. They focus on what Kahneman (1994) calls the Peak and End rule instead of on the entire duration of experience. Therefore, the moments that were emotional highs or lows, or the perceived memories of the end of a long-term event, are what stick in an individual's mind. They take too little account of how these reference points may shift, and how what Kahneman (1994) refers to as their tastes may change in the future. In this study, several of the women also seemed to depend on the Peak and End rule instead of on their total experience. Many of the women were quite worried about the possibility of eventually developing breast/ovarian cancer, but they viewed the future in terms of their present feelings and situation. These women did not talk about how they might view their decisions in the future. The women who were not sure what they wanted to do in terms of genetic testing or possible prophylactic surgery were more thoughtful about future implications.
The Availability heuristic and Representativeness heuristic fit well with the Peak and End rule. The Availability heuristic explains what people remember which is usually the Peak emotional experience. The Representativeness heuristic explains that people focus on one aspect of resemblance on which to base their judgment, instead of the larger picture. The larger picture is also what is neglected in the use of the Peak and End rule.
Several of the women interviewed, particularly Kyla and Theresa followed the Peak and End rule pattern. For example, Kyla was upset because she could only think of the horrid times, not any of the good times, and Theresa kept reliving her mother's experience with cancer that ended in death. She compared her situation with her mother's and remembered her mother's suffering. This research, however, only investigated one point in time soon after the women initially sought cancer genetics risk counselling. A longitudinal study is needed to determine whether the women's use of the Peak and End rule led them to make decisions that they were sorry about at a later date.
Kahneman and Tversky (1979) also emphasised that the choices that people make were influenced by their perception of the outcome as a gain or a loss. Prophylactic surgery can be evaluated as a gain or a loss depending on how a woman weighs disfigurement, possible surgical, medical and psychological consequences of the operation against probable substantial reduction in their risk of developing breast/ovarian cancer (Vogel 2000, Chang and Elledge 2001, Grann et al. 2002). In Hallowell's study (2000), women who chose prophylactic surgery saw it as a gain, as a means of regaining control of their bodies which they considered to be dangerous. In our study, a few mothers of young children said that they would consider prophylactic mastectomies if they were found to carry a BRCA1 or BRCA2 mutation. Betsy and Tina were most similar to the women in Hallowell's study as they also believed that their breasts might contain the seeds of their destruction and felt that their lives were more important than their breasts. They minimised the possible physical and psychological adverse consequences caused by surgery. For most of the women in this study, however, prophylactic surgery was not perceived as a gain, and this influenced the majority of the women to choose, at least for the present, yearly screening which they saw as being reassuring.
Women find it important to have choices because they tend to equate choice with control (Charles et al. 1998, Potts 2000). The line between control and an illusion of control is, however, sometimes blurred. Is minimising, or not considering the possibility of adverse consequences resulting from prophylactic surgery as part of the decision-making process, a form of illusory control, or can it be considered to be a form of active coping? Can an over-emphasis on weighing possible loss against possible gain under conditions of uncertainty result in deadlock and inaction that may have deleterious consequences in the future?
The concept of illusions of control will be relevant for cancer genetics risk counselling practice if further research reaffirms the connection between positive illusions and successful adjustment to stressful events and improved outcomes. Such findings will pose ethical questions for the genetic counsellors. For example, should genetic professionals in the cancer genetics risk clinic place a greater emphasis on the reasons why current screening techniques are not more effective – increasing anxiety, but empowering women to decide how to prioritise their lives – or should they present the current technology in the most favourable light, a more paternalistic approach, but one that may now be buttressed by research data?
In tandem with the uncertainties about the efficacy of current screening modalities and appropriateness of genetic testing is the uncertainty as to the best way to counsel women coming for breast/ovarian genetic cancer risk counselling. No longer is the traditional delivery of probabilistic information enough. Issues of family autonomy, kinship rights and obligations as well as individual psychosocial perspectives need to be taken into account. The familial context influences the meaning assigned to genetic information. If there is a disconnection between family values and values of the genetic counselling professionals, information derived from genetic counselling can be misunderstood and even misused with regard to other family members, causing possible harm to kinship bonds.
Cancer genetics risk counselling has already incorporated family dimensions, but more as supportive or adjunct services provided by a social worker or nurse as part of a team approach rather than as an intrinsic part of the genetic counsellor's risk presentation. Over the past two decades, many social scientists have indicated that clients have difficulty in understanding probabilistic risk information they receive in genetic counselling (Lippman-Hand and Fraser 1979, Wertz et al. 1986, Shiloh 1996, Marteau 1999). More recently ethical and familial implications of genetic counselling have been raised (Geller and Holtzman 1995, Dickens, Pei and Taylor 1996, Richards 1999, Rolland 1999, Absetz et al. 2000, Finkler 2001a). Cancer genetics risk counsellors now have one primary client and two secondary clients. The primary client is the woman who makes the genetic clinic appointment. The secondary clients are the family as an entity and other members of the family as individuals. The primary client is in an interactive relationship with her family as a unit and with other specific members of her family. Both the accuracy and perception of the genetic risk within the family and by the primary client influence each other and affect the decisions they make regarding their ‘chronic risk’ (Kenen et al. 2004).
Conclusion: suggestions for family-oriented genetic counselling approaches
This research, though limited, supports the position of Weil (2000) that family interrelationships should play a wider role in the genetic counselling process. While more attempts at integrating the psycho-social dimension have taken place in the United States, in the United Kingdom where this research was conducted they are still too scarce. Whether genetic counselling really is, or should be, nondirective is currently under discussion, particularly with regard to cancer genetics risk counselling (Weil 2000). It may therefore be a good time to include the kinship context into a review of cancer genetics risk counselling practices, as well as sensitising the professionals to the heuristics their clients may be using to interpret the genetic information they receive.
A few suggestions are: (1) Include a large family/kinship component in the training of medical geneticists and genetic counsellors. (2) Include genetics options in graduate programmes to train nurses and other health professionals so that they can discuss the impact of genetic risk information in the family social context. (3) Use a team structure where the initial cancer genetics risk session is conducted by a professional who is cross trained. In cases where the family genetic or psycho/social history is particularly complicated, a specialist can be called in for consultation and may be recontacted by the client on an as-needed basis. (4) Collect family psycho/social history at the same time as collecting family pedigree information. Ideally these would be computerised (Daly et al. 1999, Eunpu 1999, Kenen and Peters 2001). (5) Run a combination information and support group for members of HBOC families dealing with probability and risk as well as family dynamics. (6) Expand workshops for the professional cancer genetics risk counselling teams on ethical aspects of genetic service delivery such as individual autonomy, family autonomy, the right not to know as well as the right to know genetic make up, privacy, non-directiveness, paternalism, bias in presenting information. (7) Educate genetic counselling professionals about the commonly-used heuristics that individuals use in decision-making about complex and important outcomes in their lives, and how they arrive at their subjective views of their risk.
This study is small and exploratory and as such requires additional research to support its specific findings. It buttresses, however, the existing evidence supporting the idea that cancer risk genetics counselling needs to incorporate familial and larger social context into what has heretofore been primarily the delivery of probabilistic risk information. As was stated in the introduction of this paper, professionals in the field of clinical genetics need to remember that there is no one correct definition of risk. Statistical probability does not have a higher claim on the ‘truth’. While the lay public and experts may define risk differently, it is perfectly normal and rational for individuals to see their risks in terms of how their lives may be affected (Otway and Wynne 1989). This is especially true when life-altering, and perhaps life-saving, choices such as regular surveillance, genetic testing or prophylactic surgery are at stake.