European Journal of Oncology Nursing xxx (2014) 1e8

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European Journal of Oncology Nursing journal homepage: www.elsevier.com/locate/ejon

Maximising survival: The main concern of women with hereditary breast and ovarian cancer who undergo genetic testing for BRCA1/2 Lisa Jeffers a, *, Patrick J. Morrison a, Eilis McCaughan b, Donna Fitzsimons c, d a

Belfast Health and Social Care Trust, Department of Genetics, Belfast City Hospital, Lisburn Road, Belfast BT9 7AB, UK Institute of Nursing Research, University of Ulster, Coleraine BT52 1SA, UK c Institute of Nursing Research, University of Ulster, Jordanstown BT37 0QB, UK d Belfast Health and Social Care Trust, Belfast City Hospital, Lisburn Road, Belfast BT9 7AB, UK b

a b s t r a c t Keywords: Cancer Psychosocial nursing Grounded theory Long-term Genetics Health care professionals Survivorship

Purpose: Little is known about how women with hereditary breast and/or ovarian cancer who test positive for a BRCA gene manage the impact of a positive test result on their everyday lives and in the longer term. This study defined the experience and needs of women with hereditary breast and ovarian cancer and a positive BRCA test over time. Methods: A grounded theory approach was taken using qualitative interviews (n ¼ 49) and reflective diaries. Data collected from December 2006 until March 2010 was analysed using the constant comparative technique to trace the development of how women manage their concerns of inherited cancer. Results: A four stage substantive theory of maximising survival was generated that defines the experience of women and how they resolve their main concerns. The process of maximising survival begins prior to genetic testing in women from high risk families as they expect to get a cancer diagnosis at some time. Women with cancer felt they had experienced the worst with a cancer diagnosis and altruistically tested for the sake of their children but a positive test result temporarily shifted their focus to decision-making around their personal health needs. Conclusion: This study adds to clinical practice through raising awareness and adding insights into how women cope with living with inherited cancer risk and the personal and familial ramifications that ensue from it. A clear multi-professional structured care pathway for women from genetic testing result disclosure to undergoing risk-reducing surgery and/or surveillance should be developed. Ó 2014 Elsevier Ltd. All rights reserved.

Introduction Breast cancer is the most common cancer occurring in females in Western societies and those with a family history of the disease are at increased risk (De Leeuw et al., 2008; Van de Water et al., 2013). An estimated 5e10% of breast and ovarian cancers can be attributed to known germline mutations, the majority of which are associated with the BRCA1 and BRCA2 tumour suppressor genes (Miki et al., 1994; Wooster et al., 1995). Genetic counselling and testing is available to women from high risk families to assist them and family members in decision making for cancer risk management. Women with cancer can underestimate their emotional reaction to genetic testing (Dorval et al., 2000; Speice et al., 2002) yet following receipt of a test result routine genetic follow e up is not * Corresponding author. Tel.: þ44 (0)28 9026 3866; fax: þ44 (0)28 9023 6911. E-mail address: [email protected] (L. Jeffers).

offered to all BRCA carriers in many countries and there are no national or international guidelines on whether this should be provided (Bancroft et al., 2010). Patients are referred to family history clinics for surveillance and/or surgical intervention. The impact this positive result has on their lives and how they manage it remains uncertain, but has clear implications for specialist nurses and genetic counsellors providing services to these patients. Background Women with cancer have different motivation and expectations from healthy at risk women for attending cancer genetic clinics (Van Asperen et al., 2002; Iredale et al., 2003) Affected women seek to understand why they developed cancer and try to prevent their family from the same fate, whereas healthy at risk women attend to gain information about their own risk (Julian-Reynier et al., 1998). Uncertainty attached to knowing one’s genetic status along with

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Please cite this article in press as: Jeffers, L., et al., Maximising survival: The main concern of women with hereditary breast and ovarian cancer who undergo genetic testing for BRCA1/2, European Journal of Oncology Nursing (2014), http://dx.doi.org/10.1016/j.ejon.2014.03.007

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inadequate detection for early stage ovarian cancer in women (Evans et al., 2009), risk of genetic discrimination, the psychological impact of carrier status on family and self and childbearing decisions and creating misplaced hope have been recognized as psychosocial issues associated with genetic testing (Crotser and Boehmke, 2009; Mellon et al., 2009). A positive test result confronts women with life changing decisions around risk-reducing strategies (mastectomy and/or bilateral salpingo-oopherectomy) that are complex and carry both risks and benefits (Howard et al., 2009). Decision making about riskreducing surgery is influenced by both disease related and psychological variables shaped by experiences in women’s past and their future aspirations. Research has confirmed that disruption to family functioning and stability is greater when disorders or disease occur in the early-middle childrearing phase (Rolland and Williams, 2005). Age may affect decision-making (Newman and Newman, 2006) and young women with a BRCA mutation often have little decision-making experience to draw on and feel uncertain and worried (Hamilton et al., 2009). Young women diagnosed with breast cancer tend to opt for the most aggressive treatment to reduce their risk of further disease (Finch et al., 2013). Although risk-reducing strategies markedly reduce risk they affect women’s sense of identity, quality of life and psychological well-being (Hallowell et al., 1998; McCullum et al., 2007; Hallowell et al., 2012). Despite wide variations in care delivery to these women on an international basis most research has focused on gene carriers without a diagnosis of cancer and there is little evidence regarding the experience and needs of women whose cancer diagnosis has been compounded by a positive genetic test result. Given this clear gap in the literature we aimed to define the experience and resolution of concerns by women with a diagnosis of hereditary breast and/or ovarian cancer (HBOC) after genetic testing. This information is an essential prerequisite to improving care and modernizing service provision for this growing population.

study by a consultant geneticist. Relatives of women (n ¼ 3) and health professionals (n ¼ 4, consultant geneticist, genetic counsellor, clinical psychologist, breast care nurse) were also recruited to the study through the process of theoretical sampling in keeping with grounded theory methodology. The total number of participants was 33. Given the study method women had to be fluent in English as there were no translating services for this study. Data collection The main source of data collection was by in-depth interviews (n ¼ 45) conducted in the home of the participant and in the place of work of the health professionals (n ¼ 4). Field notes were made immediately post-interview. Data collection took place from December 2006 until March 2010 (Table 1). Interviews by the main researcher (LJ) generally lasted between 30 and 60 min. Group one was interviewed at one time point only. Most women in the second group had not undergone risk reducing surgery at the time of their first interview and had just recently received their positive result and were currently facing decisions on how they would manage the implications of their gene status. These women were interviewed over a two year period on at least one, and up to four occasions, the frequency being driven by theory development. This group was also asked to keep a reflective journal for the first six month period, detailing events, experiences or emotions that they considered relevant to them and the study. The purpose of dual approaches to data collection was to capture experiences close to the time of an event so that feelings and emotions were not lost to recall for this prospective phase of the study. Theoretical sampling

To define the experience and main concerns of women with hereditary breast and ovarian cancer and a positive BRCA test over time.

Theoretical sampling was introduced once leads became apparent in the data. The basic question in theoretical sampling is to what groups to turn to next and for what theoretical purpose? Relatives and health professionals’ were approached to elaborate and refine the existing categories and further develop and substantiate the theory. Relatives and health professionals were interviewed once. Data collection and analysis were carried out simultaneously so as the study developed and stable patterns became apparent more ‘empirically grounded’ questions were asked.

Design

Ethical considerations

Qualitative researchers are interested in how social experience is created and given meaning (Denzin and Lincoln, 2000). All human behaviour has characteristic patterns and grounded theory is a general methodology used to discover the pattern of social behaviour that explains and predicts womens’ response to a positive genetic test after their cancer diagnosis (Glaser, 1978) Thus we considered it an appropriate methodological approach for this psychosocial study.

The study was approved by the local Ethics Committees and met the governance requirements of the relevant hospital Trust. Women were provided with an information leaflet prior to the study and consented to each interview. They were made aware of their right to withdraw from the study at any time. To prevent distress in participants they were provided an opportunity for debriefing after the interview and if necessary follow-up support from a member of the clinical team.

Participants

Data analysis

Adult women with a personal history of HBOC who had tested positive for a BRCA mutation were recruited through a Regional Genetics Service. In order to maximize our understanding of this construct two sampling approaches were used; the first group (n ¼ 11) had received a positive BRCA result within 6e24 months prior to study entry and a second longitudinal group (n ¼ 15) who had received their test result within one month prior to study entry and were selected sequentially. All women were invited to participate in the

Interview and diary entry data were subjected to the same analytic techniques. Following reading and re-reading each transcript and diary data, codes were applied to describe what was happening in the data. Slices of data were constantly compared with subsequent data to look for similarities and variation. Concepts were continually refitted to best explain what was expressed in the data. Following discovery of the core concept of maximizing survival subsequent data was compared to it only, until data saturation was reached.

The study Aim

Please cite this article in press as: Jeffers, L., et al., Maximising survival: The main concern of women with hereditary breast and ovarian cancer who undergo genetic testing for BRCA1/2, European Journal of Oncology Nursing (2014), http://dx.doi.org/10.1016/j.ejon.2014.03.007

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Table 1 Interview timeline. Patient number R1 R2 R3 R4 R5 R6 R7 R8 R9 R10 R11 P1 P2 P3 P4 P5 P6 P7 P8 P9 P10 P11 P12 P13 P14 P15 K01 K02 K03 HP01 HP02 HP03 HP04

Diary entries

Yes No Yes No No Yes No Yes No Yes No No No No No

Date of test result

14/03/2007 17/05/2007 25/07/2007 17/07/2007 06/08/2007 12/092007/ 01/11/2007 15/11/2007 9/01/2008 01/04/2008 08/04/2008 23/04/2008

Date of first interview

Interview 2 (6 mths)

08/12/2006 03/01/2007 11/01/2007 01/03/2007 09/03/2007 15/03/2007 22/06/2007 30/08/2007 31/08/2007 10/04/2008 22/06/2007 18/04/2007 14/06/2007 19/06/2007 07/09/2007 13/09/2007 20/09/2007 02/11/2007 06/12/2007 07/12/2007 31/01/2008 02/04/2008 18/04/2008 01/05/2008 28/05/2008 09/09/2008 19/11/2008 19/11/2008 30/01/2009 15/09/2009 27/01/2010 06/01/2010 02/02/2010

17/10/2007 05/10 2007 19/10/2007 22/02/2008 12/02/2008 14/02/2008 11/04/2008

Interview 3 (1 yr)

Interview 4 (2 yr)

08/01/2009

05/11/2009 10/12/2009

07/05/2008 19/09/2008

02/03/2010 23/02/2010 30/04/2009 01/05/2009

R ¼ Group 1; P ¼ Group 2; K ¼ Interviews with relatives; HP ¼ Interviews with health professionals.

Rigour The first author (LJ) carried out the analysis and discussed it regularly within the research team. Credibility of the data was enhanced by the triangulation of data sources (transcripts, field notes and the research team) (Carnevale, 2002). Confirmability of the study was improved by keeping an audit trail. Findings There were a total of 33 participants and 49 interviews. Group one had 11 women (18 invited, 6 did not respond, I declined). Group two had 15 women (16 invited, 1 declined). Four health professionals and three relatives completed participant numbers (Table 2). A four stage basic psychosocial process was developed as a substantive theory to explain the main concern of maximizing survival in women with a personal history of HBOC and a positive BRCA test. The four stages; behaving altruistically, confirming genetic vulnerability, striving to contain cancer and reconstituting identity explained how women with cancer processed the core concept of maximizing survival post genetic testing. Conceptual conditions of uncertainty, hope, engagement and positivity were also identified. Women in this study made a transition from living with a cancer diagnosis to living with a diagnosis of inherited disease, which had far reaching implications for them and their families. This ‘status passage’, transformed what was essentially a personal experience, to a family experience, through the geneticization of the family.

Table 2 Participant characteristics group 1 and group 2. Participant

Age at diagnosis

Group 1 (N ¼ 11) R1 46 and 61 R2 29 R3 41 R4 35 R5 33 R6 34 R7 28 R8 58 and 68 R9 37 R10 37 R11 33 Group 2 (N ¼ 15) P1 38 P2 41 P3 37 P4 34 and 46 P5 37 P6 36 P7 40 P8 52 P9 52 P10 40 P11 39 P12 34 P13 44 P14 38 P15 42

Cancer type

Marital status

Children

Breast, ovarian Ovarian Breast Breast Breast Breast Breast Breast  2 Breast Breast Breast

Married Married Married Married Married Married Married Single Married Married Married

Yes Yes Yes No Yes Yes Yes No Yes Yes Yes

Breast Breast Breast Breast  2 Breast Breast Breast Ovarian Ovarian Breast Breast Breast Breast Breast Breast

Married Widowed Married Married Married Married Divorced Married Married Single Divorced Widowed Married Married Married

Yes Yes Yes Yes Yes No Yes Yes Yes No Yes Yes Yes Yes Yes

Please cite this article in press as: Jeffers, L., et al., Maximising survival: The main concern of women with hereditary breast and ovarian cancer who undergo genetic testing for BRCA1/2, European Journal of Oncology Nursing (2014), http://dx.doi.org/10.1016/j.ejon.2014.03.007

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Stage 1 e behaving altruistically The first stage in the process, ‘behaving altruistically’, accounts for the motivation women have to find out if their cancer is inherited and whether or not their personal cancer diagnosis has risk implications for their family, particularly their own children. Living within a high risk family exposed women to experiences where they had previously witnessed close relatives suffer from cancer. These experiences were influential in how women interpreted, constructed and coped with their personal risk and eventually their own diagnosis. Growing up in a family where many relatives were diagnosed with cancer, along with listening to family stories about cancer was part of normal family life to the extent that these women felt personally vulnerable to cancer and held an expectation of a cancer diagnosis at some point in their lives. Risk for them was experiential rather than something that could be quantified: (P12) I think I always had it in my mind as I was growing. My mum was 27 when she was diagnosed, and she was pregnant with me and I always had it in my mind that because she was carrying me I would have automatically got those genes because they were in her and she would have passed them onto me. I was just waiting until I was 27 and then nothing happened! And then I was 28 and a smear test showed abnormal cells and (I thought) oh this is it coming now! And then that was OK, so then I felt I had another couple of years you know sort of to myself. The emotional and physical closeness of their affected relatives influenced how women perceived and interpreted their own risk and the level of fear or optimism they felt in relation to their own health outcome. Their lay understanding of inheritance led them to suspect their diagnosis would follow the same illness trajectory to a close relative: (R7) I knew that I might take it, but I wasn’t, you know, I wasn’t really worried because I seen my Mummy, she had the lump removed, she had her radium done and she was great so that gave me a good incentive. However, women did seek out an alternative reason for their own diagnosis. Some women felt responsible for developing cancer suspecting their lifestyle choices may have been a causative factor, or that their diagnosis was a punishment for something they had done in their past. Finding out if it was caused by a gene seemed to help with mitigating guilt and adaption: (P11) I thought well at least it was nothing I had done to myself that give me the cancer, you know because all through I kept thinking was it something I had done you know? Was it my lifestyle that caused me to get it and then when I found out it was the gene I thought well, I don’t know, a bit of relief sort of thing you know that I didn’t cause it myself and it was out of my hands sort of thing Stage 2 e confirming genetic vulnerability Engagement with genetic counselling and testing was a critical juncture that provided the impetus to move to the second stage of the process confirming genetic vulnerability. This stage was concerned with women anticipating the result and evaluating the result both in the short and longer term. Disseminating the information within the family was also a category of this stage. Many women had an expectation of a positive genetic test result, but remained hopeful that the result would be negative and they would be exempt from transmitting cancer to their children and family:

(P6) and he says (partner) “but, sure, it’s what you thought” and I says “yes, what I thought but I really didn’t want it to be true.he says “you know, you knew” and I says “I know but it wasn’t really reality then. “but Colin, you know, it’s OK for you, you know, if our child, any child we have ends up with a cancer, it is because I have knowingly given it to them” Following the result there was a palpable sense of guilt for women who now felt personally responsible for causing a chain of events they had in fact inherited. Even though women were cautiously expecting this positive result, they still had to make a significant psychosocial adjustment: (HP4) people do talk about that process of preparing themselves before they get a test result and lots of people that I see end up saying things like that they were, at one level, kind of prepared that this is what was going to happen and they were going to get a positive test result, but then, there’s something different about being prepared for that and actually getting the information and it’s as if then something has changed, something very qualitative has moved or shifted, that they couldn’t have anticipated before. I don’t think that people react badly to it, it is just that it is a big change. This change was partly concerned with a change in women’s identity and self. A positive test result confirmed that others in the family would be implicated: (P5) the initial cancer diagnosis; you are dealing with it sort of from a very personal point of view. When you go to Genetics, it’s e all of a sudden it’s not just you anymore. It’s the wider family and the implications for it and sort of not as much worried for myself then as for my own family and my brother and cousins and just the far reaching impact of what was happening to me. It was a different sensation completely from the diagnosis of cancer. Even though hopeful expectations of a negative result were dashed, women did re-evaluate the result and, over time came to judge the positive test as a ‘blessing’, a ‘bonus’ as it provided certainty about the potential risk to others and offered controllability to future generations. The identification of the gene was seen as an advantage to their family over other families, who were not perceived as so lucky and would continue to be exposed to cancer, loss and grief within a family: (P3) I know BRCA 2 is you know, it’s a blessing really because an awful lot of people that can’t find out. I found out so now I know you know, to keep a good eye on myself and if I am afraid, go to the Doctor or whatever Another participant spoke of mixed feelings in relation to testing and cancer: (R05) I was actually relieved and happy in a way, knowing that they did find the gene that was causing it because I have raised a family and that it will help them. There were times, yes; I would have felt angry because I was the only one to get the cancer Another participant responded: (P15) It is a double edged sword I think. If I hadn’t had the gene I probably would have said I am a lucky woman but there is something getting my relatives so I suppose that might have been an unknown gene and my daughter would be left, a 12 year old. Part of me is relieved but I still wish it wasn’t me if you know what I mean?

Please cite this article in press as: Jeffers, L., et al., Maximising survival: The main concern of women with hereditary breast and ovarian cancer who undergo genetic testing for BRCA1/2, European Journal of Oncology Nursing (2014), http://dx.doi.org/10.1016/j.ejon.2014.03.007

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While no participants reported regret at having undergone testing in spite of their result, some found their family unsupportive and unwilling to be involved in the testing process:

with normal life was overtaken with cancer worry. Their life was in the hands of professionals and it seemed like control of their future was diminished:

(P10) I was OK the day they told me I had the faulty gene but it was the next day it hit me. I just was really upset and then my family will not really talk about it, my bigger sister says she’s definitely not going to get tested and then the other one, she’ll just not talk about it

(P10) actually I would like it done you know as soon as possible, I really would you know, just love to get it over and done with you know e and just get on with the rest of my life and be able to plan things. Many others expressed cancer worry during the waiting period

Others felt in limbo after they received their result, and did not know from whom or where to garner support and information: (P2) it actually does affect the risk level I am on. I really hadn’t got a clue about that. . I just thought oh he’s going to tell me there’s a wee gene. it was like then there were all the questions.of course I didn’t think about it until I was home and then I didn’t really know what or who to ring.because he’s a Professor, I thought I’m not ringing a Professor, so I really didn’t know who I should have rang to ask the stupid question because I don’t know if my own Doctor would know a lot of the answers Women also required information and support on how and when to inform their offspring about a faulty gene in the family: (P4) I haven’t approached the girls on it yet. My husband doesn’t want to approach them for some reason at the minute. I don’t know what to do with them to tell you the truth. It is good, I think it’s good when they know. My husband’s not as keen on the idea. He says that if they are tested and one has and one hasn’t (the gene) you know, but I don’t feel like that, I feel they are better to know. I don’t know what point of view there would be on that?

Stage 3 e striving to contain cancer Transition to the third stage, striving to contain cancer, saw women in the longitudinal group shift their focus from the family implications to their own personal physical and psychological well being, and ultimately survival. Fourteen out of fifteen women in the longitudinal group had undergone or were waiting to undergo or intended to undergo either risk reducing mastectomy (RRM) or prophylactic bilateral salpingo-oopherectomy (PBSO) or both. Those who were intending to undergo risk-reducing surgery were still receiving cancer treatment. One woman, who had been diagnosed with breast cancer many years earlier, opted for surveillance only because she was frightened of having her ovaries removed in case it led to depression. Six of the 15 women opted for RRM at the time of the study, one women wanted RRM but was undergoing a second regimen for ovarian cancer and one participant was in her 60’s and felt her risk was lower as she had had her ovaries removed due to ovarian cancer. Risk-reducing surgery was perceived by many women as not only the best chance to reduce their risk of cancer but a way of avoiding any further chemotherapy: (P07) he is going to take everything away, I’m gone 50 so that doesn’t annoy me, I would rather than go through chemo again. I mean I’ve done it twice and its horrendous.well it’s bad enough the first time, but when you go through it the second time you know what to expect, its worse and to have to go through that again, I don’t think I could, just take it out While waiting for this surgery, cancer worry was intense and some women found managing the uncertainty of cancer returning almost unbearable to a point of ‘suspended living’ where getting on

(P07) I wonder will he hurry it (surgery) up. You are sitting there thinking is it starting to work, is the cancer maybe there.it’s like a time bomb you know. You are just feeling all the time and the least wee thing you are like, not paranoid, but I would certainly be quite aware of things During waiting periods women felt anxious and unsupported by health care professionals particularly in relation to communication: (P02 e 2nd interview) I really want to write things down about how annoyed I am.you give me this information and nobody has done anything about it. I found out in April about this gene and I’m none the wiser you know, I’m not. It’s like somebody has given you, not a death sentence, but this thing could kick off at any time, especially auntie Susie dying from it last year.I just don’t think it’s right to give people, tell people that and then there is nothing to back it up Women with young children were certain that risk-reducing surgery was the best option: (P14) I know I am not going to have any regrets, to me it’s just, you want to live your life and I have a three year old child and you want to be there for her basically so everything else is irrelevant to me. For some risk reducing surgery was not without its costs to their identity and emotional well-being: (P3) It’s just going to be real strange, you’ll not feel like a woman, if you know what I mean because you have no breasts, no womb, noI don’t think I will feel very desirable for my husband.. He says he doesn’t care what I look like, as long as I am still here, but he just. you feel it, you know, he doesn’t look at you the same although he hasn’t changed, it’s just me. You don’t feel sexy or anything like that. I know that’s not the be all and end all but. Women who chose to continue with surveillance for either breast or ovarian cancer were influenced by factors such as age, child-bearing decisions, fear and expert opinion. Stage 4 e reconstituting identity Taking control of their situation led women into the final stage of their status passage, reconstituting identity. Positive emotions were integral to a coping strategy that sought to manage the uncertainty of their present and future and these were expressed through an increased self awareness brought about by a change in self concept and reconstituted identity. Many women had begun restructuring their personal orientation or perspective on life after their diagnosis of cancer. Much as cancer had been a devastating experience, with hindsight, some women interpreted it as a ‘wake up call’ and used it to their benefit: (P6) Generally I would be quite positive and I always do try to be positive and you know, it’s like when a problem comes along you

Please cite this article in press as: Jeffers, L., et al., Maximising survival: The main concern of women with hereditary breast and ovarian cancer who undergo genetic testing for BRCA1/2, European Journal of Oncology Nursing (2014), http://dx.doi.org/10.1016/j.ejon.2014.03.007

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L. Jeffers et al. / European Journal of Oncology Nursing xxx (2014) 1e8

sort of try not to look at it as a problem, try and look at it just as like an opportunity, like something you’ve just got to face that’s going to make you stronger and that’s the way I try to deal with it. Women appraised their present and future within the context of their past and were moving from illness to restoring physical and psychological well-being. Many found a greater appreciation for life and prioritised meaningful personal and social relationships in their life: (P5) Your attitudes and things certainly change and things that were important aren’t as important anymore and you appreciate the things that truly are important. Deterioration in physical health was experienced by some women following treatments and surgical interventions. Psychologically too these women changed dramatically, many feeling more confident and empowered, while others were conscious of the loss of a carefree self. Some women remained fatalistic and lived for the present regarding the future as fragile and uncertain. Over time, many women came to accept that an abnormal cancer gene was not the worst gene to have, or the worst gene to pass on and felt they had made a positive contribution to their family: (R3) And because of I had four sisters and because I had, well obviously, I mean I wanted it for my own kids as well, you know, but I feel it is a very positive side for my family, what I have gone though, I feel it will all be worth it, you know, if I can save everybody else’s lives, particularly my own children. It is a comfort and driving force for me, you know Even for women who had received a positive genetic test result months or years previously they felt the researcher was one of the few people that they had talked to about it: (P07) especially with the genetic thing, I mean it’s just like sharing things and talking to other people, that’s where you come in, you can talk to them and you know get what they want and they know what you are talking about whereas somebody that hasn’t been there, don’t really, they sympathise with you and like they listen to you but it just goes over their head.

Discussion Findings from this study confirm the significant psychosocial impact of living with genetic disease and cancer. Through the approach of grounded theory we have uncovered significant survivorship issues that affect personal, family and social relationships. The major concern of this population is to maximise survival on both a personal and kinship basis. Although this study interviewed women after they had received a positive genetic test result it is evident that the process of maximising survival begins earlier in their experience of cancer and heredity. This study explains and predicts how affected women with HBOC cope with and adjust to a positive BRCA test result over time. The two stage sampling approach of this study was crucial in uncovering the psychological shift in focus for women after receiving a positive test and highlighted the periods in transition that required support by health care professionals. Women with cancer undergo genetic testing for the benefit of their children but on confirmation of a positive test, minimising their personal risk of a second cancer or recurrence of disease took priority and changed their immediate focus from worry about passing it on to their children to worry about personal risk. Previous studies have not

reported this shift in affected women. Hallowell et al. (2004) commented on the dearth of available evidence on the psychosocial impact of BRCA1/2 genetic testing on affected individuals and pointed out that, ‘the psychological sequelae are broadly similar to those observed in healthy at-risk women’ (pg 554). Their retrospective study found that women who had experienced cancer were not anxious at the threat of further disease and it did not impact negatively on their identity. Results from the current study suggest there is a change in identity in gene carriers with pathology. Further research would be worthwhile to understand the impact of this change. Long-term reactions reported by Hughes Halbert et al. (2011) found BRCA carriers were not likely to experience genetic testing concerns four years after receiving their test result. Findings from the current study found the threat of further disease caused significant anxiety around nurturing children and personal survival that remained unresolved until women underwent risk-reducing surgery and in many continued as cancer worry. These findings emphasise the need for prospective, longitudinal studies which can determine points in the trajectory that would benefit from intervention. Personal experience of illness in the family influenced how women in this study coped with their own diagnosis of cancer. Many anticipated the same illness trajectory as a close relative, often a mother. This lay representation of ‘representativeness’ is a common heuristic or ‘cognitive shortcut’ and has been reported elsewhere (Tversky and Kahneman, 1974; McAllister, 2003; Kenen et al., 2003). Women required an explanation for their disease if they were to be able to assign meaning and order to it to help with adaption and coping (Taylor, 1983). A theory of cognitive adaption proposed by Taylor (1983) derived from research on women with breast cancer incorporated themes of finding meaning in the experience, attempting to gain mastery over the event and over one’s life and enhancing one’s self-esteem. Taylor proposed that the necessary condition to resolve these themes was the ability to form and maintain illusions, which she defined as looking at the facts with a particular positive slant. For example, even though women sought attribution or meaning for their cancer diagnosis, there was no specific attribution that produced better adjustment and women already had control over attributions such as diet or stress. The theory of maximising survival extends Taylor’s work as a genetic attribution is a legitimate cause of cancer and may be influential in women’s adjustment to their cancer diagnosis as it provides a sense of relief and diminished self-blame in the knowledge that their cancer was not self-imposed through a lifestyle choice but by something outside of their control. In this study the majority of women opted for risk reducing surgery. A positive test was described as a ‘pivotal point’ in the decision making process in women choosing risk-reducing surgery by McQuirter et al. (2010), yet others found the genetic test result itself was not that influential in decision-making with a decision to opt for risk-reducing surgery being taken earlier on in the counselling and testing process (Van Dijk et al., 2008; Vos et al., 2012). The current study is unique as all the BRCA carriers had a personal history of cancer prior to testing and had the devastating experience of a cancer diagnosis and treatments. Many women based their decisions on risk-reducing surgery being their best option to avoid any further chemotherapy and ensure they survived to raise their children and generally move on with their life. Risk-reducing surgery in young BRCA carriers has been identified as a strategy to avoid potentially devastating outcomes (Hoskins and Greene, 2012). Women who have a cancer diagnosis are often already anxious about their disease prognosis, and results from this study indicate that the uncertainty surrounding their physical health had an

Please cite this article in press as: Jeffers, L., et al., Maximising survival: The main concern of women with hereditary breast and ovarian cancer who undergo genetic testing for BRCA1/2, European Journal of Oncology Nursing (2014), http://dx.doi.org/10.1016/j.ejon.2014.03.007

L. Jeffers et al. / European Journal of Oncology Nursing xxx (2014) 1e8

adverse impact on their psychological well-being, manifesting in increased cancer worry and anxiety and was more common in women with a recent cancer diagnosis. Similar findings have been reported in the literature where women who had a diagnosis of cancer less than one year prior to genetic testing were more anxious than those who had a diagnosis more than one year previously (Wood et al., 2000; Van Roosmalen et al., 2004; SchlichBakker et al., 2006; Kenen et al., 2006). When women attend a cancer genetic clinic, telling their story of their family history and often their cancer story, is all part of the process of their constructing meaning and shaping their identity (Frank, 2000). This autobiographical work in relation to their genetic status and reconstituting their identity was still taking place for many women in this study, particularly those in the longitudinal cohort. The interview was a method of working out meanings and conceptions of the self as an ill or well person (Corbin, 2003). Women commented how the research interview was their first opportunity to talk to someone about the impact of the test result on their lives. Similar findings of the support value in interviews have been recognised (Quaid et al., 2008). Women want to move on from their cancer diagnosis and many had started this transition before they attended a genetic clinic. Transition, according to Bridges (2004) is not an event, but an “inner reorientation and self e redefinition”. Cancer has been the catalyst for the beginning of a transition, but the disruption of learning about genetic status led to constructing a new reality that encompassed a re-definition of self and family. Thinking positively has become the norm in the face of serious illness and is manifested in everyday life through popular psychology and the ‘self-help’ movement (McGrath et al., 2005). Women did associate negative thinking with illness and positive thinking with health and wellbeing and this was evident even in participants who had recurrent disease and a poor prognosis. Although the research regarding positive thinking is equivocal there is evidence to support the notion that a positive outlook and fighting spirit result in a better perception of quality of life in cancer patients (Schou et al., 2005). Limitations Advances and changes in genetic information and cancer treatments over recent years may result in very different experiences for women who have recently undergone genetic testing; hence the relevancy of concepts generated from interview data in this study may differ but the transferability of findings from this study can be assessed by undertaking taking similar studies in other regions and populations. Conclusion This study does provide useful insights into the contextual and psychosocial factors that women with HBOC attach to coping with, and adapting to, a positive BRCA result. Such strengths give it the currency to be used as a framework to assess and meet the needs of this population and contribute to the development of guidelines for the care of this client group. The role of health care professionals is to support women through the status passage of a cancer diagnosis to a diagnosis of inherited disease and geneticisation of the family to ensure psychological disruption is minimised. Nurses can support women in their decision-making and help them come to terms with a positive BRCA result. Breast care and specialist nurses are in a prime position to identify those women who are particularly anxious while waiting for risk-reducing surgery and can target care and support to minimise this anxiety. Specialist nurses are in a position to help assess individual need for and provide information around

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psychosocial issues such as body image, possible side effects of risk reducing surgery that can impact everyday life and relationships. Further engagement with women and their families through focus groups and other research methods, to address their concerns and survivorship issues is warranted. Conflict of interest The authors declare no conflict of interest. Funding source This research was funded by Health and Social Care, Research and Development study number EAT/2935/04. Study sponsors had no involvement in design, collection, analysis or interpretation of data, in the writing of the manuscript or decision to publish. References Bancroft, E.K., Locke, I., Ardern-Jones, A., D’Mello, L., McReynolds, K., Lennard, F., et al., 2010. The carrier clinic: an evaluation of a novel clinic dedicated to the follow-up of BRCA1 and BRCA2 carriers-implications for oncogenetics practice. Journal of Medical Genetics 47, 486e491. Bridges, W., 2004. Transitions: Making Sense of Life’s Changes. Da Capo Press, Cambridge, MA. Carnevale, F.A., 2002. Authentic qualitative research and the quest for methodological rigour. Canadian Journal of Nursing Research 34, 121e128. Corbin, J.M., 2003. The body in health and illness. Qualitative Health Research 13, 256e267. Crotser, C.B., Boehmke, M., 2009. Survivorship considerations in adults with hereditary breast and ovarian cancer syndrome: state of the science. Journal of Cancer Survivorship 3, 21e42. De Leeuw, J.R.J., van Vilet, M.J., Ausems, M.G.E.M., 2008. Predictors of choosing lifelong screening or prophylactic surgery in women at high and moderate risk for breast and ovarian cancer. Familial Cancer 7, 347e359. Denzin, N.K., Lincoln, Y.S., 2000. Handbook of Qualitative Research, second ed. Sage, Thousand Oaks, London. Dorval, M., Patenaude, A.F., Schneider, K.A., Kieffer, S.A., DiGianni, L., Kalkbrenner, K.J., et al., 2000. Anticipated versus actual emotional reactions to disclosure of results of genetic tests for cancer susceptibility: findings from p53 and BRCA1 testing programs. Journal of Clinical Oncology 18, 2135e2142. Evans, D.G., Gaarenstroom, K.N., Stirling, D., Shenton, A., Maehle, L., Dorum, A., et al., 2009. Screening for familial ovarian cancer: poor survival of BRCA1/2 related cancers. Journal of Medical Genetics 46, 593e597. Finch, A., Metcalfe, K., Chiang, J., Elit, J., McLaughlin, J., Springate, C., et al., 2013. The impact of prophylactic salpingo-oopherectomy on quality of life and psychological distress in women with a BRCA mutation. Psycho-Oncology 22, 212e219. Frank, A., 2000. Illness as autobiographical work; dialogue as narrative destabilization. Qualitative Sociology 23, 135e156. Glaser, B., 1978. Theoretical Sensitivity: Advances in the Methodology of Grounded Theory. The Sociological Press, Mill Valley, California. Hallowell, N., Statham, H., Murton, F., 1998. Women’s understanding of their risk of developing breast/ovarian cancer before and after genetic counseling. Journal of Genetic Counseling 7, 345e364. Hallowell, N., Foster, C., Eeles, R., Ardern-Jones, A., Watson, M., 2004. Accommodating risk: responses to BRCA1/2 genetic testing of women who have had cancer. Social Science & Medicine 59, 553e565. Hallowell, N., Baylock, B., Heiniger, L., Butow, P.N., Patel, D., Meiser, B., et al., 2012. Looking different, feeling different: women’s reactions to risk-reducing breast and ovarian surgery. Familial Cancer 11, 215e224. Hamilton, R., Williams, J.K., Bowers, B.J., Calzone, K., 2009. Life trajectories, genetic testing, and risk reduction decisions in 18e39 year old women at risk for hereditary breast and ovarian cancer. Journal of Genetic Counseling 18, 147e159. Hoskins, L.M., Greene, 2012. Anticipatory loss and early mastectomy for young female BRCA1/2 mutation carriers. Qualitative Health Research 22, 1633e1646. Howard, A.F., Balneaves, L.G., Bottorff, J.L., 2009. Women’s decision making about risk-reducing strategies in the context of hereditary breast and ovarian cancer: a systematic review. Journal of Genetic Counseling 18, 578e597. Hughes Halbert, C., Stopfer, J., McDonald, J., Weathers, B., Collier, A., Troxel, A., et al., 2011. Long-term reactions to genetic testing for BRCA1 and BRCA2 mutations: does time heal women’s concerns? Journal of Clinical Oncology 29, 4302e4306. Iredale, R., Brain, K., Edwards, L., Gray, J., France, E., 2003. The information and support needs of women at high risk of familial breast and ovarian cancer: how can cancer genetic services give patients what they want? Familial Cancer 2, 119e121. Julian-Reynier, C., Eisinger, F., Chabal, F., Aurran, Y., Bignon, Y.J., Nogues, C., et al., 1998. Cancer genetic clinics: why do women who already have cancer attend? European Journal of Cancer 34, 1549e1553.

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Please cite this article in press as: Jeffers, L., et al., Maximising survival: The main concern of women with hereditary breast and ovarian cancer who undergo genetic testing for BRCA1/2, European Journal of Oncology Nursing (2014), http://dx.doi.org/10.1016/j.ejon.2014.03.007

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Little is known about how women with hereditary breast and/or ovarian cancer who test positive for a BRCA gene manage the impact of a positive test re...
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