Nina Hallowell

Doing the right thing: genetic risk and responsibility

This paper reports the findings of an interview study of women (n = 40) attending genetic counselling for hereditary breast/ovarian cancer (HBOC). The analysis indicates that women who attend genetics clinics perceive themselves as having a responsibility to their kin (past, present and future generations) to establish the magnitude of their risk and the risks to other family members, and to act upon this information by engaging in some form of risk management. It is observed that in acknowledging their genetic responsibility for their kin these women not only relinquished their right not to know about their risks, but also committed themselves to undertaking risk management practices which may have iatrogenic consequences. It is argued that the construction of genetic risk as a moral issue can be seen as limiting the choices which are available to women who attend genetic counselling.

Attentional bias to threat: Roles of trait anxiety, stressful events, and awareness

Attentional biases for threat stimuli were assessed in high and low trait anxious subjects (n = 66) using a probe detection task. To examine the effects of trait anxiety and situational stressors, each subject was tested three times: Under no stress, laboratory-induced stress, and examination-induced stress. To evaluate the role of awareness, half the word stimuli were presented very briefly (14 msec) and masked, and the other half were presented for 500 msec without a mask. Results showed that high trait anxious subjects under exam stress showed an attentional bias towards unmasked threat stimuli compared with low trait subjects. This effect was not found under lab-induced stress, suggesting that the attentional bias for unmasked threat in high trait subjects may be a function of a prolonged stressor, rather than a transient increase in state anxiety. The results from the masked exposure condition were not predicted; high trait anxious subjects shifted attention towards the spatial location of threat words despite lack of awareness of their lexical content, but this bias was only apparent in the no-stress condition. The results are discussed in relation to recent cognitive theories of anxiety.

Balancing autonomy and responsibility: the ethics of generating and disclosing genetic information

Using data obtained during a retrospective interview study of 30 women who had undergone genetic testing—BRCA1/2 mutation searching—this paper describes how women, previously diagnosed with breast/ovarian cancer, perceive their role in generating genetic information about themselves and their families. It observes that when describing their motivations for undergoing DNA testing and their experiences of disclosing genetic information within the family these women provide care based ethical justifications for their actions. Finally, it argues that generating genetic information and disclosing this information to kin raise different types of ethical issues. The implications of these findings for ethical debates about informed choice in the context of genetic testing are discussed.

Family Communication and Genetic Counseling: The Case of Hereditary Breast and Ovarian Cancer.

In familial breast/ovarian cancer, the information that the proband is able to supply about other family members is of critical importance for genetic counseling. This frequently requires family communication. Forty-six women attending a cancer genetics clinic were interviewed as part of a longitudinal study. Nearly all reported affected maternal, rather than paternal relatives, which may indicate lack of awareness by women with paternal histories. There was also much more communication among female relatives. Mothers, where they were still alive, were key figures in supplying family information. Although the majority of the sample contacted at least one relative regarding counseling, most named a relative with whom they did not feel able to communicate on this subject. Probands balanced the perceived obligation of passing on information with that of not causing alarm. Communication, both obtaining and giving information, was impeded by adoption, divorce and remarriage, family rifts, and large age gaps between siblings.

‘We should change ourselves, but we can't’: accounts of food and eating practices amongst British Pakistanis and Indians with type 2 diabetes

Objective(s). To look at food and eating practices from the perspectives of Pakistanis and Indians with type 2 diabetes, their perceptions of the barriers and facilitators to dietary change, and the social and cultural factors informing their accounts. Method. Qualitative, interview study involving 23 Pakistanis and nine Indians with type 2 diabetes. Respondents were interviewed in their first language (Punjabi or English) by a bilingual researcher. Data collection and analysis took place concurrently with issues identified in early interviews being used to inform areas of investigation in later ones. Results. Despite considerable diversity in the dietary advice received, respondents offered similar accounts of their food and eating practices following diagnosis. Most had continued to consume South Asian foods, especially in the evenings, despite their perceived concerns that these foods could be ‘dangerous’ and detrimental to their diabetes control. Respondents described such foods as ‘strength-giving’, and highlighted a cultural expectation to participate in acts of commensality with family/community members. Male respondents often reported limited input into food preparation. Many respondents attempted to balance the perceived risks of eating South Asian foodstuffs against those of alienating themselves from their culture and community by eating such foods in smaller amounts. This strategy could lead to a lack of satiation and is not recommended in current dietary guidelines. Conclusions. Perceptions that South Asian foodstuffs necessarily comprise ‘risky’ options need to be tackled amongst patients and possibly their healthcare providers. To enable Indians and Pakistanis to manage their diabetes and identity simultaneously, guidelines should promote changes which work with their current food practices and preferences; specifically through lower fat recipes for commonly consumed dishes. Information and advice should be targeted at those responsible for food preparation, not just the person with diabetes. Community initiatives, emphasising the importance of healthy eating, are also needed.

An investigation of patients’ motivations for their participation in genetics-related research

Design: Qualitative interview study. Participants: Fifty-nine patients with a family history of cancer who attend a regional cancer genetics clinic in the UK were interviewed about their current and previous research experiences. Findings: Interviewees gave a range of explanations for research participation. These were categorised as (a) social—research participation benefits the wider society by progressing science and improving treatment for everyone; (b) familial—research participation may improve healthcare and benefit current or future generations of the participant’s family; and (c) personal—research participation provides therapeutic or non-therapeutic benefits for oneself. Conclusions: We discuss the distinction drawn between motives for research participation focused upon self (personal) and others (familial/social), and observe that personal, social and familial motives can be seen as interdependent. For example, research participation that is undertaken to benefit others, particularly relatives, may also offer a number of personal benefits for self, such as enabling participants to feel that they have discharged their social or familial obligations. We argue for the need to move away from simple, static, individualised notions of research participation to a more complex, dynamic and inherently social account.

Men's decision-making about predictive BRCA1/2 testing: the role of family.

Men who have a family history of breast and/or ovarian cancer may be offered a predictive genetic test to determine whether or not they carry the family specific BRCA1/2 mutation. Male carriers may be at increased risk of breast and prostate cancers. Relatively little is known about at-risk men’s decision-making about BRCA1/2 testing. This qualitative study explores the influences on male patients’ genetic test decisions. Twenty-nine in-depth interviews were undertaken with both carrier and noncarrier men and immediate family members (17 male patients, 8 female partners, and 4 adult children). These explored family members’ experiences of cancer and genetic testing, decision-making about testing, family support, communication of test results within the family, risk perception and risk management. Implicit influences on men’s testing decisions such as familial obligations are examined. The extent to which other family members—partners and adult children—were involved in testing decisions is also described. It is demonstrated that mothers of potential mutation carriers not only perceive themselves as having a right to be involved in making this decision, but also were perceived by their male partners as having a legitimate role to play in decision-making. There was evidence that (adult) children were excluded from the decision-making, and some expressed resentment about this. The implications of these findings for the practice of genetic counseling are discussed.

You don't want to lose your ovaries because you think 'I might become a man'.: women's perceptions of prophylactic surgery as a cancer risk management option.

This preliminary study provides insight into the meaning of prophylactic surgery as a risk management strategy for women who have a familial risk of breast or ovarian cancer. Data were collected during observations of genetic consultations and in semi‐structured interviews with 41 women following their attendance at genetic counselling. The option of prophylactic surgery was raised in 29 consultations and discussed in 35 of the post‐clinic interviews. Fifteen women said they would consider having an oophorectomy in the future and nine said they would consider having a mastectomy. The implications of undergoing oophorectomy and mastectomy were discussed during the post‐clinic interviews. Prophylactic surgery was described by the counsellees as providing individuals with a means to (a) fulfil their obligations to other family members and (b) reduce risk and contain their fear of cancer. The costs of this form of risk management, were described as: (a) compromising social obligations; (b) upsetting the natural balance of the body; (c) not offering protection from cancer; (d) operative and post‐operative complications; (e) the onset of menopause (f) the effects on body image, gender and personal identity and (g) potential effects on sexual relationships.

A qualitative study of the information needs of high-risk women undergoing prophylactic oophorectomy.

This qualitative study sought to determine the information needs of high‐risk pre‐menopausal women who had undergone prophylactic bilateral oophorectomy to manage their inherited risk of ovarian cancer. In‐depth interviews were carried out with 23 high‐risk women following surgery. Although the benefit of risk reduction was perceived as out weighing the costs of surgery, many women reported that they would have liked more information about the physical and emotional after‐effects of oophorectomy prior to and following surgery. The analysis identified five different types of information needed by women making surgical decisions, comprising information about ovarian function and the menopause, hormone replacement therapy (HRT), surgical procedures, convalescence and the risk of inheriting a genetic mutation and developing cancer. It is suggested that, in addition to genetic counselling for hereditary ovarian cancer, women should receive information about both the costs and benefits of prophylactic oophorectomy, and should have access to gynaecology nurse specialists both before and after surgery. Copyright

Surveillance or surgery? A description of the factors that influence high risk premenopausal women's decisions about prophylactic oophorectomy

Editor—Approximately 5% of cases of epithelial ovarian cancer result from an inherited susceptibility.1 Some of the genetic mutations responsible have recently been identified.2-5 It is estimated that BRCA1 carriers have a 28% lifetime risk of developing ovarian cancer,6 while BRCA2 carriers have a risk of 0.4% of developing ovarian cancer at the age of 50, which rises to 27% by the age of 70.7 The recommended management of high risk women is either annual ovarian screening (transvaginal ultrasound) with serum CA125 measurement or bilateral prophylactic oophorectomy from the age of 35 onwards, or once childbearing is completed.8-11 As there is no evidence that ovarian screening is effective in reducing mortality, it is currently assumed that prophylactic surgery is the best form of risk management,12-14 although data suggest that intra-abdominal carcinomas may still arise following this procedure.15-17 There is little published research on the uptake of preventative surgery in at risk women18 or mutation carriers.19 20 However, it is generally assumed that there will be an increase in demand for prophylactic surgery, as direct mutation testing becomes more widely available. Epidemiological studies suggest that prophylactic oophorectomy may play a role in the prevention of breast cancer in high risk populations.21 22 Therefore, there may be a case for informing women at risk of breast cancer about this option. If health professionals are to facilitate informed decision making about ovarian cancer risk management, then they need to be aware of the factors that influence womens decisions about prophylactic surgery. There are few published data that describe the factors that influence womens decisions to undergo prophylactic surgery because of their inherited risk of developing cancer. Studies of high risk women who have undergone prophylactic mastectomy to manage their risk of breast …