On doing ‘being ordinary’: women's accounts of BRCA testing and maternal responsibility

Abstract

In recent months, genetic testing for the breast and ovarian cancer genes, BRCA1 and BRCA2, has again hit the headlines in the UK press. Four women, all from families with a strong breast cancer pedigree, have asked the Human Fertility and Embryology Authority for permission to screen their embryos for BRCA1/2 mutations. Although this may be a dramatic example of parental responsibility, other studies have shown that women at risk of BRCA-related cancers frequently cite responsibility to others as an important influence on their testing and treatment decision making. In this paper, I explore the decision-making explanations that women at risk of BRCA-related breast and ovarian cancer provide when accounting for their decision to undergo genetic testing. In doing so, I treat women's accounts critically, and examine how and why the women verbalize their explanations in the manner that they do.

Introduction

The sequencing of the human genome enabled developments to be made in the early detection and diagnosis of breast and ovarian cancer. The discovery of the first breast/ovarian cancer gene, BRCA1, was announced in 1994 (Miki et al., 1994), followed by BRCA2 a year later (Wooster et al., 1995). In recent months, genetic testing for the hereditary breast and ovarian cancer genes, BRCA1 and BRCA2, has again hit the headlines in the UK press. Four women, all from families with a strong breast cancer history, have asked the Human Fertility and Embryology Authority (HFEA) for permission to screen their embryos for BRCA1/2 mutations (BBC News Online, 2007; Menon et al., 2007; Templeton, 2007).

Unsurprisingly, this has led to suggestions that the women are creating ‘designer babies’ (Templeton, 2007). Embryos would be created via cycles of IVF and undergo pre-implantation genetic diagnosis (PGD), in which those found to carry a mutated BRCA1/2 gene would be discarded. Only ‘healthy’ embryos would be implanted into the woman's womb. PGD, while ethically contentious, saves children from being born with severe, inherited abnormalities and terminal diseases; it prevents suffering, of both the child and its loved ones. However, PGD is also criticized in that it theoretically provides a means of selecting—or designing—a child, to screen out certain characteristics, and hence is feared for its similarities with eugenics.

The decision to screen embryos for mutated BRCA genes is controversial. Breast cancer, while having devastating consequences, is treatable and survivable. Moreover, unlike genes for cystic fibrous or Huntington's Disease, BRCA1/2 genes are not 100% penetrant; although carriers have up to an 80% likelihood of developing the disease, carrying either gene does not guarantee that the disease will develop (Metcalfe et al., 2000). The four women are asking the HFEA for permission to screen and reject BRCA1/2 positive embryos, which if carried to full term and surviving until adulthood, may not even go on to develop breast cancer. Moreover, the onset of breast cancer is likely to be related to environmental and lifestyle influences (Ponder, 2001). Therefore, embryos that screen negative for BRCA1/2 might develop breast cancer later in life. While BRCA1/2 genes can be carried by both men and women, this paper focuses solely on the experiences of women considered at risk.

Over the last decade or so, a wealth of papers have been written about the decision to undergo genetic testing for breast and ovarian cancer (for example: Hallowell, 1999; D'Agincourt-Canning, 2001; Foster et al., 2002; Hallowell et al., 2003; D'Agincourt-Canning, 2006). A large number of these describe the testing decision as being influenced by the woman's responsibility to others (such as husband, children, mother).

Medical sociologists have long studied the illness and lifestyle choices that parents, especially mothers, make in regard to both their own health and lifestyles, and the influence that parental (maternal) responsibility has upon their decision making (Pill & Stott, 1982; Vebrugge, 1983; Roberts, 1991; Oakley, 1993; Murphy, 2000). In this paper, I explore the decision-making explanations that women at risk of BRCA-related cancer provide, when accounting for their decision to undergo genetic testing. In doing so, I treat women's accounts critically, and explore the reasons why women invoke a particular rhetorical strategy—Sacks' (1984) notion of ‘doing ordinariness’—when verbalizing their explanations for why they chose to undergo genetic testing.

Key to Sacks' (1984, p. 414) argument regarding ‘doing ordinariness’, is:

How, in ordinary conversation, people, in reporting on some event, report what we might see to be, not what happened, but the ordinariness of what happened. The reports do not so much give attributes of the scene, activity, participants, but announce the event's ordinariness, its usualness.

Being ordinary then, is not a given. A person does not just become ‘ordinary’, but works to demonstrate their ‘ordinariness’. Doing ‘being ordinary’ is a construction; it is a form of social action.

Methods

The arguments made in this paper are drawn from data collected in a small-scale qualitative interview study. The research was based in the family history clinic at an NHS hospital specializing in hereditary cancer genetics. Prior to sample recruitment, the study gained appropriate ethical approval. Data collection took place between January and April 2003.

Hereditary breast and ovarian cancer affects only a limited number of women each year. For example, between 1998 and 1999, just 1,173 BRCA1 and BRCA2 genetic tests were undertaken in the UK (Cooper, 2000). This limited population is compounded when focusing upon just one geographic region (as this study did). Given the limited number of women recruited for genetic testing for breast/ovarian cancer, an opportunistic sampling method was utilized. Opportunistic sampling ‘follows no strict, logical plan’ (Honigman, 1982, p. 81), and offers flexibility to include whichever cases are made available for inclusion into the sample. Thus, as Murphy et al. (1998, p. 92) suggest, ‘in some cases, particularly where the phenomenon is highly sensitive, or illicit, the population of interest is highly mobile, or the group of interest is known to be reluctant to participate in research, opportunistic sampling may be the only avenue open to the researcher’.

The selection of the sample was very much dependent upon the access that the clinical team allowed to their patients and case notes. The breast care nurse affiliated to the clinic came to act as a gatekeeper; she granted me access to her case notes and files that included details of women that had been offered genetic testing. Cases were selected according to the patient's year of birth, number of children, marital status, genetic test result, previous diagnosis of cancer and risk management option chosen.

Nineteen cases were initially selected. This was reduced to fifteen, as the gatekeeper considered contact would be inappropriate with four of the identified women, reasoning that they were not coping with their risk well, or would not welcome the attention of a researcher. Cicourel (1964, pp. 54–5) advises that ‘if formal [access] channels are used … the possibility exists that the researcher's study will be restricted or that he might be refused the opportunity to study at all’. Similarly, Hammersley and Atkinson (2000, p. 66) warn that, ‘gatekeepers may … attempt to exercise some degree of surveillance and control, either by blocking off certain lines of inquiry, or by shepherding the fieldworker in one direction or another’. While the sample was ultimately guided and shaped by the nurse, such a recruitment method was the only available means of gaining the data.

Fifteen women were contacted, asking if they would consent to interview. The final sample comprised 12 women (see Table 1), the majority of whom were asymptomatic. Nine women had a maternal family history of hereditary breast/ovarian cancer. The remaining three women had a paternal family history. Eleven women had consented to undergo genetic testing and one declined. All names used in the course of this paper are pseudonyms, in order to protect the identities of the respondents and their families.

Table 1. Sample composition

	Age at referral	Line of inheritance	Gene status
Caitlin*	26	Paternal	BRCA1
Cassie*	44	Maternal	BRCA1
Jade*	28	Maternal	BRCA1
Jen*	25	Maternal	BRCA1
Jill*	35	Maternal	BRCA1
Joanna*	40	Paternal	Untested
Judy*	39	Maternal	BRCA2
Julie*	32	Maternal	Negative
Laura*	37	Maternal	BRCA1
Louise*	32	Paternal	Negative
Trisha*	27	Maternal	BRCA1
Zoë*	28	Maternal	BRCA2
*All names used throughout this paper are pseudonyms.

All interviews were semi-structured and presented comparable questions to all participants. This format allowed the researcher space to adapt the interview and elicit further responses from participants in the light of local circumstances (Jupp et al., 2000). In most cases, this allowed the interviews to fall into a format more typically recognized as a ‘conversation with a purpose’ (Burgess, 1988). In a similar vein to methodology employed by Parsons and Atkinson (1992, p. 439) in their study on lay constructions of genetic risk for Duchenne Muscular Dystrophy, this method allowed the women to talk about their decision making ‘in the course of an informal conversation’ which in turn allowed the researcher access to how they incorporated their genetic risk into ‘their everyday reality’.

With the participants' written consent, the interviews were audio-recorded and transcribed verbatim. The data presented in this paper are verbatim extracts from the interviews. Data analysis was inductive, and guided by the constant comparative methods outlined by Glaser and Strauss (1967). Constant comparison allows for inductive and continual refinement of the analytical themes, and as such enables the analyst to consider and reconsider ‘what is really meaningful in the data’ (Patton, 1990, p. 406). Consequently, data analysis was driven and ‘developed from phenomena which are in various ways evidenced in the data’ (Heritage, 1984, p. 243). Although arguably a somewhat ‘naïve’ approach to data analysis, such an tactic is valuable in that it allows women's stories to come to the fore, and also acts to prevent any a priori influence that the researcher may unwittingly have had on the data.

For the purposes of this paper, just one theme arising from the data analysis is discussed: the participants' sense of maternal responsibility in deciding to undergo genetic testing for an inherited breast/ovarian cancer gene.

Results

The women overwhelmingly demonstrated that their decisions to undergo genetic testing were heavily swayed by their need to protect—or be seen to be protecting—their relatives. As will be seen, this included undergoing genetic testing in order to inform daughters and siblings about their own chances of developing hereditary cancer, lessening the chance of loved ones watching them suffer from the disease in the future, or adhering to a promise made to a terminally ill mother.

Miller (1976) argues that a woman's identity is intrinsically linked to her capacity to care for and nurture others, regardless of any negative impact that this might have upon her own personal health. Fox and Worts (1999, p. 330) add to this list of characteristics, claiming that the ‘essence of motherhood is responsibility’. Such descriptions are morally laden, which leads Murphy (1999) to suggest that women's choices are judged, both by the women themselves and by other people. A ‘good’ woman/mother should demonstrate evidence of her selflessness and responsibilities towards others (Murphy, 1999).

For the women in this study, the notions of caring and nurturing—that is acting in a socially conceived, morally responsible manner for a woman—was a key influence in their decision-making. This was especially likely if the woman either had children, or was hoping to conceive in the near future. For example, Julie reasoned that she had decided to undergo genetic testing because she planned to start a family and wanted to be aware of any mutation that her child might inherit. Likewise, when asked about her decision to have genetic testing, Louise explained:

I thought about it a lot anyway, but then, when it actually came to it, I thought, do I want the test or don't I, but I've got a five-year-old daughter, so there was never any doubt.

Jill rationalized her decision to undergo genetic testing in relation to her perception that she had a responsibility to be well for her children not only in order that she could care for them, but also to prevent them from observing her become ill. She recalled how she had watched her own mother's health decline:

I don't want my daughter to see me like I saw my Mum because I think it was a very slow, drawn out death and cancer in particular can be a really horrible death and to see somebody in, deteriorate so, it takes a lot to overcome those scenes and times and remember the healthy looking, and I don't want my children to see me looking like that.

In making this account, Jill is producing her language to emphasize that she acted in order to protect her daughter. Like Jill, many of the women constructed their talk to illustrate their moral responsibility to protect their offspring. However, the women appeared to be more concerned about the chance that their daughters may have inherited the mutated gene and would go on to develop cancer later in their lives. Only a minority of the women mentioned the risk posed to their sons. Zoë recalled how she worried about her daughter Amy and was relieved to discover that the baby she was carrying was male. She explained:

I'm worried about Amy as it is, it's on my mind every day but we found out yesterday that [this one is] a boy, so we can relax a bit.

Whilst male breast cancer is rare (Perkins & Middleton, 2003), men found to carry a positive BRCA2 gene are at greater risk of developing breast cancer and have a higher susceptibility to prostate cancer (Bennett et al., 1999). Several factors may shape women's apparent lack of awareness of the risk for men. It is possible that BRCA-related risks for men are not being adequately addressed or emphasized sufficiently within healthcare consultations. Breast cancer has been so widely depicted as a female killer that people may be unaware that men can also develop the disease.

According to Novas and Rose (2000, p. 503), the decision to undergo a predictive genetic test is presented as a monumental and potentially life-altering decision that one makes for oneself, in relation to one's genetic legacy, and for significant others. The notion of responsibility to ‘significant others’ was developed by Laura. She described how she considered her sister when deciding to undergo testing:

All I could really think about was I want to know, and if I decide not to have it done, then it would affect so many other people. If I didn't, it would affect my sister's chance of having it.

Laura's account focuses upon the negative implications that declining genetic testing would have upon her family. She emphasized how had she not undergone testing, her sister, who was later found to carry a mutated BRCA gene, would have been denied the opportunity to have testing herself. As such, her decision is depicted to be as much for the benefit of her sister as for herself. However, while Laura concentrated upon the negative consequences for her family if she had declined testing, her sister Trisha recalled the ‘golden opportunity’ she had been given:

She started to get upset and she said ‘I'm really sorry, what an awful thing to, a legacy to give you’ and I just looked at her and said ‘what do you mean, you've given me an opportunity, I feel that you've given me a golden opportunity, it sounds awful to say to get it before it gets me.’

The reactions of the two sisters to the decision to undergo genetic testing are striking. One sister considered that her own positive BRCA test created a damaging ‘legacy’ for the other, while the other sister perceived it to be an ‘opportunity’, a chance to react to her risk. While Laura perceived her actions had created something ‘awful’, Trisha recognized it to be something ‘golden’. Laura's original decision to undergo genetic testing was therefore represented as an altruistic act by both sisters.

The notion of selflessness and responsibility to ‘significant others’ was also developed by Jill, who discussed how she felt obligated to undergo genetic testing because her mother had asked her to do anything possible to avoid the illness from which she was dying. Jill's mother had terminal ovarian cancer, and although it would not alter her treatment or prognosis, she decided to undergo testing for her children's sake, as once a mutated gene had been found they themselves could be referred to the clinic and have their risk managed. Consequently, Jill explained, ‘I felt like I'd got to do it for my Mum’. As these accounts reflect, the decision to seek medical help and undergo genetic testing was made altruistically and influenced by the women's perceived responsibility towards ‘significant others’ rather than solely for their own benefit. Genetic risk created a ‘pervasive moral sense of responsibility towards others’ (Taylor, 2004, p. 140).

Discussion

This paper, while exploring the decision-making of women at risk of hereditary cancer, also examines ‘talk-in-interaction’. Schegloff (1986, p. 111) argues that ‘in any examination of talk-in-interaction we are studying social action’. An interview is a social encounter, a form of social action, and as such ‘involves the parties demonstrating their own, and checking each other's, ability to ‘see’ the world in a particular way' (Dingwall, 1980, p. 153). Consequently, interview responses should not be recognized as depicting actual behaviour, but as a rehearsed or edited version of what occurred (Murphy et al., 1998). In terms of this paper, it is this—how and why women construct their accounts of their decision-making in order to achieve the status of ‘being ordinary’, that is intriguing. For the women, doing ‘being ordinary’ is to demonstrate, via the construction of their talk, that they are ‘good mothers’ and ‘good women’. In order to successfully inhabit these categories, they must demonstrate to themselves and others that they care for and nurture other people before addressing their own health needs. A ‘good’, ‘moral’ woman/mother therefore does not just follow these rules in an ad hoc manner. Rather, she knowingly follows them (Murphy, 1999), and as Dingwall acknowledges, makes efforts to ensure that others also recognize her actions.

Given the social and interactional nature of the interview situation, the experiences recollected by the women while being interviewed are treated as accounts, constructed with the aim of directing the manner in which they and their actions were represented: as ‘ordinary’. During interview, the arguments made were therefore constructed with the aim that the interviewer/reader might perceive that the decisions taken were moral, responsible and fitting.

Women's health and their reaction to both illness and risk were shaped by their responsibilities and obligations to children, parents and spouses. The most prominent influence upon women's decision-making to undergo genetic testing was having children, followed by watching loved ones die from breast or ovarian cancer. The accounts provided by Julie and Louise echoed Murphy's (2003) argument concerning women's biologico-moral responsibility. Central to this form of responsibility is the welfare of the child, in which the physical and psychological well being of the child comes before that of the mother, regardless of the cost to her.

In justifying their decisions to have genetic testing as a means of protecting the young and seemingly defenceless, both Julie and Louise demonstrated not only the perception that children were the ‘innocent victims’ of inherited risk, but that they were successfully meeting the obligations of an ‘ordinary’ woman/mother in that they were considering the care of others before their own needs. This is especially obvious in Louise's account of her decision making, as she implies that had it not been for her daughter, she would not have decided to have genetic testing.

In this study, the care and well being of others came before the women's own health. Such a finding mirrors Hallowell's (1999) research and also much of the early medical sociological work on women's health and health service usage (Pill & Stott, 1982; Vebrugge, 1983; Roberts, 1991; Oakley, 1993; Murphy, 2000). Novas and Rose (2000, p. 487) argued:

When an illness or a pathology is thought of as genetic, it is no longer an individual matter. It has become familial, a matter both of family histories and potential family futures. In this way, genetic thought induces ‘genetic responsibility’—it shapes prudence and obligation, in relation to getting married, having children, pursuing a career and organizing one's financial affairs.

Graham (1979) reported that women considered that their children's health was often more important than their own. Despite being published decades before genetic testing became available, Graham's argument fits well with Novas and Rose's statement regarding ‘genetic responsibility’. The similarities between new genetic accounts, such as that seen in Hallowell's study (1999) and older accounts (such as Graham's) suggests that women's decision-making explanations are not uniquely associated with genetic medicine, but build upon the foundations offered in much earlier medical sociological work. Subsequently, the influence of moral responsibility to others upon their decision-making that women reported is not exclusive to being at risk of a genetically inherited disease. Rather, the common factor is maternal responsibility and the moralized social roles and rules intertwined with womanhood and motherhood. By reporting that their genetic testing decisions were inextricably bound to their obligations to children (and others), the women were actively constructing their identities as ‘ordinary’ mothers and ‘ordinary’ women, and were thus doing something that any ‘normal’ person would.

Conclusion

Much of the data discussed in this paper has similarities with that reported in other studies examining both genetic and non-genetic decision-making. Like the women at risk of breast cancer who participated in Hallowell's research (1999), the women in this study constructed and reacted to their heightened risk of hereditary cancer as a moral issue. However, the data also reflect the findings of other studies investigating non-genetic related material. Murphy (1999) found that women employed rhetorical strategies to manage their self-presentation, in relation to the decision to breastfeed or bottle-feed their babies.

In this study, women at risk of hereditary cancer constructed their accounts of their decision making in order that they be depicted as a good mother, sister or daughter, and a competent, caring woman. I have suggested that women's decisions and the explanations are comparable in many ways with those given in relation to other health decisions. In making the decision to protect loved ones, the women are demonstrating their ‘ordinariness’; they are doing ‘being ordinary’ despite the unusual situation they find themselves in. The decision to screen embryos for mutated BRCA genes is just an extension of this. The right of a mother to protect, care and nurture her offspring should be recognized as ‘doing being ordinary’.

Acknowledgements

The comments of the anonymous referees have been gratefully received and incorporated into the paper. Thanks are also extended to Robert Dingwall, Alison Pilnick, Sam Hillyard, Elizabeth Murphy and Ellen Annandale, all of whom had an influence on my thinking when preparing this manuscript.