Accommodating risk: Responses to BRCA1/2 genetic testing of women who have had cancer

https://doi.org/10.1016/j.socscimed.2003.11.025Get rights and content

Abstract

The relationship between risk awareness and anxiety has been the subject of extensive theoretical debate and empirical research. Previous studies of women with a family history of hereditary breast and ovarian cancer suggest that both healthy at-risk women and former cancer patients report increased anxiety upon learning about their increased risks of developing these diseases. Indeed, anxiety about genetic risks has been reported as influencing decisions about DNA-testing and risk-reducing surgery on healthy breasts and ovaries. This qualitative study of women who had been treated for breast/ovarian cancer investigated their perceptions of, and reactions to, their genetic risks of developing further cancers following genetic testing (BRCA1/2 mutation searching). In-depth interviews were undertaken with 30 women (10 mutation carriers, 8 awaiting a result and 12 who received an inconclusive test result). Whilst the majority of women in all three groups adopted a fatalistic approach with regard to their future health and did not regard their genetic risks as a threat to self, a few reported heightened anxiety on learning they were at increased risk of developing a second primary cancer. The data suggest that affected women understand their genetic risks of cancer within the context of their previous disease experiences. It is observed that women's responses to their genetic risk are influenced by the degree to which they have accommodated their risk status in their biography following their diagnosis and treatment of cancer.

Introduction

In his recent book Anxiety in a Risk Society Wilkinson (2001) investigates the complex relationship that exists between risk awareness and anxiety. He observes that risk is an essentially contested concept, and acknowledges that the paradox of risk is such that “…knowledge of risk can be used to both unsettle and reassure those seeking to plan for the future…“(p. 90). Wilkinson describes two contrasting conceptions of risk, which he argues have come to be associated with anxiety in differing ways.

In the first, risk is used to mean an outcome that is unknowable, unwanted and, in some sense, incalculable. Knowledge of risk constitutes a raised awareness of a range of possible futures that contain varying amounts of unknown dangers or hazards. Thus, according to this conception, the future is seen as ultimately uncertain and unpredictable and as such, is perceived as potentially threatening to self. As Wilkinson notes, this usage of risk frequently has negative connotations, insofar as uncertainty about the future, i.e. risk awareness, has become a major source of anxiety within modern society (for example, Beck, 1992; Giddens, 1991).

In the second, and contrasting, usage risk is associated with certainty. Knowledge of risk is seen as enabling one to predict with a certain degree of accuracy the likelihood of events occurring within the future and, by implication, suggests that one can have control over that future. In this sense risk, or at least the calculation of risk, has a predictive utility, and obtaining risk information about oneself or external events, can be seen as beneficial, insofar as it can be used to inform one's life choices. Accordingly, as Wilkinson (2001, p. 90) observes, risk calculation may “…allay anxiety by making clear the proper dimensions of an anticipated danger so that it can be faced as a manageable fear.” (see also Giddens, 1991, p. 44). Thus, risk awareness constitutes a resource for coping with anxiety.

This latter conceptualisation of “risk” underlies public health discourses in general and the rhetoric of the new genetics in particular (Petersen & Bunton, 2002). As Koenig and Stockdale (2000) observe, the discourse of the genetic clinic constructs the information revealed by genetic testing/pedigree analysis as providing individuals with foresight. The estimation of genetic risk makes what is essentially an uncertain future appear more certain; it renders the unpredictable more predictable. Thus, probabilistic information about inherited health risks (to self and others) is constructed as a resource, which can be used to inform individuals’ risk management choices and thus, potentially allay their anxiety about their future health.

The relationship between genetic risk awareness and emotional well being has been the subject of extensive research in recent years. Studies of individuals with a family history of hereditary breast and ovarian cancer (HBOC), suggest that whilst they may view the formal acknowledgement of their at-risk status positively, insofar as it facilitates access to breast/ovarian screening programmes, the adoption of an at-risk identity may also have negative repercussions. There is evidence that being identified as at-risk of HBOC, either as a result of genetic testing or pedigree analysis, may have a negative impact upon emotional well-being (Di Prospero et al., 2001; Foster et al., 2002; Lodder et al., 2001; Watson et al., 1999). These studies suggest that women who have a family history of breast/ovarian cancer may be fearful and anxious about their risks of developing cancer (Appleton, Fry, Rees, Rush, & Cull, 2000) and that anxiety about one's cancer risks is related to subsequent risk management decisions, such as prophylactic surgery (Fry, Rush, Busby-Earle, & Cull, 2001a; Hallowell, Jacobs, Richards, Mackay, & Gore, 2001; Hatcher, Fallowfield, & A’Hern, 2001; Meiser et al., 1999; Stefanek, 1995). But whilst the evidence indicates that mutation carriers report increased anxiety levels immediately following the receipt of BRCA1/ 2 predictive test results, it also suggests that anxiety levels decrease over subsequent months (Butow, Lobb, Meiser, Barratt, & Tucker, 2003); implying that healthy at-risk women are able to accommodate the information that they are at increased risk of developing cancer given time.

The fact that much of the research in this area has focussed upon at-risk women who have no personal cancer history, rather than women who have previously been diagnosed with cancer can be seen as an oversight on the part of researchers. Arguably, it is important to determine cancer patients’ (hereafter affected women) responses to genetic testing, not least because current policy regarding genetic testing in the UK normally requires the identification of the family specific mutation in an affected relative before BRCA1/2 predictive testing can be offered to “healthy” at-risk family members. Thus, in many cases at-risk family members approach affected women with a request to undergo gene testing so that they can gain access to predictive testing.

The few studies that have looked at the psychosocial impact of BRCA1/2 genetic testing on affected individuals suggest that the psychological sequelae are broadly similar to those observed in healthy at-risk women. There is evidence that affected women: experience increased anxiety upon learning they are at risk of other types of cancer (e.g., ovarian) (Bish, Sutton, Levene, Ramirez, & Hodgson, 2002), that cancer related worry motivates their decision to undergo genetic testing (Brandt, Hartmann, Ali, Tucci, & Gilman, 2002) and emotional distress is increased following the disclosure of positive BRCA1/2 test results (Bonadona et al., 2002; Croyle, Smith, Botkin, Baty, & Nash, 1997; Dorval et al., 2000). Indeed, Bonadona et al. (2002) report that participants in their study commented that they “no longer felt cured” following confirmation of their BRCA1/2 carrier status. Similarly, Dorval et al. (2000) observe that the cancer patients in their study failed to anticipate the degree of negative emotional reactions they experienced upon learning they carried a mutation.

However, it must be noted that many of these studies can be seen as problematic. They are based on small samples (n=<12) and, with the exception of Bish et al.'s study, provide very little information about the health status of the women in their sample, for example: length of time since diagnosis and treatment, thus raising the possibility that the increased levels of anxiety reported are a response to adjuvant treatment or reflect an awareness of the risks of secondary cancers developing in other organs, rather than a response to their inherited risks of other primary carcinomas in the future. Moreover, with the exception of Bonadona et al. (2002) semi-structured interview study, research in this area primarily uses questionnaires and/or standardised psychological measures of anxiety/cancer worry. Such methods of data collection provide little insight into the perceived focus of anxiety (i.e., what women are anxious about and why) and how they interpret genetic risk information. Furthermore, with the exception of Bish et al. (2002), questionnaires were administered 7–30 days following disclosure of the DNA test result, and thus, only provide evidence of the emotional impact of mutation testing in the short-term, which, as studies of predictive testing indicate, may change over time (Butow et al., 2003). Hence there is a need for more in-depth research that explores affected women's responses to genetic testing, particularly those who have been in receipt of a test result for some time. Drawing upon data collected during a qualitative study of women, who have undergone BRCA1/2 mutation searching, this paper investigates the impact of genetic testing upon former breast/ovarian cancer patients.

Between 5% and 10% of cases of breast and epithelial ovarian cancer are caused by dominantly inherited genetic mutations (such as BRCA1 and BRCA2). Female mutation carriers have earlier than an average age of disease onset and increased risks of developing these cancers, which may be as high as 85% in the case of breast cancer and 27–60% in the case of ovarian cancer (Ford et al., 1997; Whittemore, Gong, & Itnyre, 1998). At the present time in the United Kingdom women who have been diagnosed with breast/ovarian cancer and have a strong family history of these diseases are offered DNA-testing (mutation searching) to determine whether or not they carry one of the known cancer susceptibility mutations. Those who are identified as BRCA1/2 mutation carriers have an increased risk of developing a second primary cancer (for example, a contralateral breast or ovarian tumour (Ford, Easton, & Peto, 1995). Therefore, affected women may need to make further cancer risk management decisions, following confirmation of their carrier status. Clinical management of high-risk individuals (confirmed or suspected mutation carriers) currently includes: chemoprevention, breast/ovarian screening or prophylactic (risk-reducing) breast/ovarian surgery (Burke et al., 1997; Eccles, Evans, & Mackay, 2000).

Women who undergo mutation searching either receive a confirmatory result—they are identified as a mutation carrier—or an inconclusive result—a known BRCA1/2 mutation was not detected. Failure to detect a mutation may be due to the limitations of the technology (in the UK there is only a 68% chance that a BRCA1/2 mutation will be found if present). Alternatively, their cancer may have been caused by mutations in, as yet, unidentified genes (e.g. BRCA3BRCAX) or other non-genetic factors. Receiving an inconclusive result (i.e. no known mutation is detected) has implications for affected women, in terms of their future risk management insofar as they are still regarded as at genetic risk of further disease on the basis of their family history.

Due to current limitations in genetic technology, the offer of predictive BRCA1 and 2 mutation testing to other at-risk family members (both women and men), who have not been diagnosed with cancer, is normally dependent upon the prior identification of a mutation in an affected relative. Thus, an affected woman's decision to undergo mutation searching not only has implications for her own future health, but also has direct implications for her kin. In this sense, the role played by affected women is pivotal, for without their consent to genetic testing other at-risk family members are effectively prevented from establishing their carrier status, if there is no other living affected relative who is willing to undergo a mutation search.

Section snippets

The study

This retrospective study aimed to explore women's perceptions and experiences of genetic testing and to establish their information and support needs both before and after they received a result. It was based upon in-depth interviews with 30 affected women who satisfied the clinic criteria for genetic testing and had undergone, or were undergoing, BRCA1 and 2 mutation searching at the time of the interview.

Ethical approval was obtained from the hospital's Local Research Ethics Committee.

Findings

It is impossible to discuss women's reactions to DNA testing without providing evidence of the context in which these responses existed thus, the following sections will describe: women's perceptions of the impact of receiving a cancer diagnosis, the reasons they provided for undergoing genetic testing and finally, their responses to their genetic risks of future disease. As will be demonstrated, whilst the women's responses to genetic testing were mediated by their former experiences of cancer

Discussion

The present study complements previous findings, which suggest that a diagnosis of cancer is experienced as a biographically disruptive event or “fateful moment” in one's life (Colyer, 1996; Mathieson & Stam, 1995). All the women described the time immediately following their diagnosis as a period of self-reflection and re-evaluation. Constructing a future for themselves in the face of an uncertain prognosis was reported by all as requiring a great deal of biographical work. In the light of

Conclusions

This study suggests that affected women's responses to genetic testing are not compartmentalised. Rather they are, and indeed, need to be, understood within the context of their previous experiences of this disease. Reported anxiety about future health appeared to be less influenced by the provision of genetic information (either as a result of pedigree analysis of DNA-testing) than the extent to which cancer risks had been incorporated into self-identity following a previous diagnosis.

Acknowledgements

We would like to thank all the women who took part in this study. We are extremely grateful to a number of people who took the time to comment on earlier drafts of this paper, whose input and challenging comments were invaluable: Julia Lawton, in particular, and Reggie Kenen, Ann Robertson, Oonagh Corrigan, Ginny Morrow and the anonymous referees. Thanks also go to Fiona Lennard and Gillian Mitchell for their help during the recruitment phase of the research. Finally to Sue Davolls—whose

References (42)

  • M Bury

    Chronic illness as biographical disruption

    Sociology of Health & Illness

    (1982)
  • P.N Butow et al.

    Psychological outcomes and risk perception after genetic testing and counselling in breast cancerA systematic review

    Medical Journal of Australia

    (2003)
  • H Colyer

    Women's experience of living with cancer

    Journal of Advanced Nursing

    (1996)
  • J Corbin et al.

    Accompaniments of chronic illnessChanges in body, self, biography, and biographical time

    Research in the Sociology of Health Care

    (1987)
  • R.T Croyle et al.

    Psychological responses to BRCA1 mutation testingPreliminary findings

    Health Psychology

    (1997)
  • L.S Di Prospero et al.

    Psychosocial issues following a positive result of genetic testing for BRCA1 and BRCA2 mutationsFindings from a focus group and a needs-assessment survey

    Canadian Medical Association Journal

    (2001)
  • M Dorval et al.

    Anticipated versus actual emotional reactions to disclosure of results of genetic tests for cancer susceptibilityFindings from p53 and BRCA1 testing programs

    Journal of Clinical Oncology

    (2000)
  • Eccles, Evans, D.G.R., Mackay, J. (2000). Guidelines for a genetic risk based approach to advising women with a family...
  • D Ford et al.

    Estimates of gene frequency of BRCA1 and its contribution to breast and ovarian cancer incidence

    American Journal of Human Genetics

    (1995)
  • Ford, D., Easton, D.F., Stratton, M., Narod, S., Goldgar, D., Devilee, P., the Breast Cancer Linkage Consortium (1997)....
  • C Foster et al.

    Predicitve testing for BRCA1/2Attributes, risk perception and management in a multi-centre clinical cohort

    British Journal of Cancer

    (2002)
  • Cited by (94)

    • Diagnostic layering: Patient accounts of breast cancer classification in the molecular era

      2021, Social Science and Medicine
      Citation Excerpt :

      An important question for sociologists is how these wider approaches to molecularization for driving more individualised and precise diagnoses impact patients’ experiences of cancer. Across medical sociology, a number of scholars have considered personal experiences of breast cancer diagnosis (e.g. Liamputtong and Suwankhong, 2015; Sulik, 2009), including of molecular diagnostics through the case of germline BRCA1/2 genetic testing (Hallowell et al., 2004; Hesse-Biber, 2014). Using ethnographic methods, Day et al. (2017) explored patient and practitioner experiences of genomic techniques to stratify treatment within NHS breast cancer care, concluding that in this setting these practices “promoted less rather than more integrated, personalised and seamless care” (p155).

    • Communicating unexpected pharmacogenomic results to biobank contributors: A focus group study

      2021, Patient Education and Counseling
      Citation Excerpt :

      One complexity of communicating PGx results is the role of risk perception. Our findings confirm the role of health identity in shaping reactions to PGx results, similar to studies of heritable disease risk [49–51] and test results [52,53]. Awareness of narrative constructs could help anticipate different responses to disclosure, varying with personal and familial cancer diagnoses and bereavement [54].

    • Black and Minority Ethnic women's decision-making for risk reduction strategies after BRCA testing: Use of context and knowledge

      2019, European Journal of Medical Genetics
      Citation Excerpt :

      Such concerns for various aspects of one's personal and social life - for instance feeling like a woman, wanting to breastfeed or starting a family – all merge with perspectives towards the gene for cancer and its place in future health management. All these factors have been shown to create ways in which one shapes their interaction with health services (Bradbury et al., 2008; Crew, 2017; Hallowell et al., 2004; Skirton and Eiser, 2003) and should thus be part of the discussions clinicians will have with their patients from diverse ethnic groups. The concept of genetics therefore has multiple meanings (Atkinson et al., 2013; Featherstone et al., 2006; Hallowell et al., 2004; Richards, 1996; Salant et al., 2006) which will each influence people's perspectives towards how to interact with any related health maximising decisions and what advice they may give to family.

    • The limits of responsible innovation: Exploring care, vulnerability and precision medicine

      2018, Technology in Society
      Citation Excerpt :

      How to choose the best lifestyle and monitoring regime to ensure continued health? Hallowell et al. [45] have amply demonstrated the anxieties and responsibilities towards family members which these kinds of tests and information can generate, as individuals make choices about when to know and when to share information of relevance. This also applies to the disclosure of ‘incidental findings’ generated by precision medicine, whereby patients have to make complex decisions about what they may want to know about their or a members of their families' risks of developing other diseases in the future at a point at which they are particularly vulnerable because they are suffering from the effects of their disease and treatments [46].

    View all citing articles on Scopus
    View full text