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There is a lack of formal scientific evidence on how best to manage women with a family history of breast cancer, in terms both of communicating about their risk of developing the disease and of advising about the optimal risk management strategy. It is vital that services offered to these women are adequately evaluated to inform future practice. This paper reports data from an ongoing longitudinal study of the knowledge, attitudes and behavioural and emotional responses of women attending a familial breast cancer clinic in SE Scotland. The clinic was established in 1992, and at that time there were no published psychological data available from the small number of similar clinics in the UK. We were aware of the subsequently published assessments from Manchester of womenÕs perceptions of their risk of developing breast cancer (Evans et al, 1993(Evans et al, , 1994. The same method of assessing risk perceptions was therefore adopted in this study. In spite of a subsequent proliferation of cancer risk counselling clinics there has remained a dearth of published reports evaluating the services offered.The concerns when our clinic opened were that the women seeking referral would be characterized by high anxiety and not necessarily at significantly increased risk. A further concern was that the process of counselling about cancer risk would be anxiety provoking, particularly for those who would be told that their risk was greater than they had previously thought. In the current state of knowledge, the information that can be given about individual risk and the efficacy of available risk management strategies is highly probabilistic. It was recognized that this uncertainty could also generate anxiety. Key issues were therefore to assess womenÕs perceptions of their risk of developing breast cancer and the psychological morbidity associated with cancer risk counselling.This study was conducted against a background of data accruing from the US to show a substantial proportion of women with a family history of breast cancer with significant levels of psychological distress (Kash et al, 1992) and gross overestimates of their own cancer risk (Lerman et al, 1994a;Gagnon et al, 1996) even after risk counselling (Lerman et al, 1995). High levels of perceived susceptibility and associated anxiety have been shown to interfere with adherence to recommended surveillance programmes (Kash et al, 1992;Lerman et al, 1993). The concern has also been expressed that some women will deal with their concerns by making ill-considered requests for genetic testing or prophylactic surgery (Lerman et al, 1994b). In the UK, Lloyd et al (1996) compared 62 genetic counsellees (with a family history of breast cancer) with a matched group of attenders at a general practitionerÕs (GP) surgery. They found these two groups of women to be similar in terms of the outcome measures used and concluded that the risk of breast cancer was not predictive of psychological morbidity. In this study, risk perceptions were recorded before counselling, but 58% of t...

Annual surveillance, by transvaginal ultrasound scanning and serum CA125 measurement, in women at increased familial risk of ovarian cancer is ineffective in detecting tumours at a sufficiently early stage to influence substantially survival in BRCA1/2 carriers.

BackgroundA gap analysis was conducted to determine which areas of breast cancer research, if targeted by researchers and funding bodies, could produce the greatest impact on patients.MethodsFifty-six Breast Cancer Campaign grant holders and prominent UK breast cancer researchers participated in a gap analysis of current breast cancer research. Before, during and following the meeting, groups in seven key research areas participated in cycles of presentation, literature review and discussion. Summary papers were prepared by each group and collated into this position paper highlighting the research gaps, with recommendations for action.ResultsGaps were identified in all seven themes. General barriers to progress were lack of financial and practical resources, and poor collaboration between disciplines. Critical gaps in each theme included: (1) genetics (knowledge of genetic changes, their effects and interactions); (2) initiation of breast cancer (how developmental signalling pathways cause ductal elongation and branching at the cellular level and influence stem cell dynamics, and how their disruption initiates tumour formation); (3) progression of breast cancer (deciphering the intracellular and extracellular regulators of early progression, tumour growth, angiogenesis and metastasis); (4) therapies and targets (understanding who develops advanced disease); (5) disease markers (incorporating intelligent trial design into all studies to ensure new treatments are tested in patient groups stratified using biomarkers); (6) prevention (strategies to prevent oestrogen-receptor negative tumours and the long-term effects of chemoprevention for oestrogen-receptor positive tumours); (7) psychosocial aspects of cancer (the use of appropriate psychosocial interventions, and the personal impact of all stages of the disease among patients from a range of ethnic and demographic backgrounds).ConclusionThrough recommendations to address these gaps with future research, the long-term benefits to patients will include: better estimation of risk in families with breast cancer and strategies to reduce risk; better prediction of drug response and patient prognosis; improved tailoring of treatments to patient subgroups and development of new therapeutic approaches; earlier initiation of treatment; more effective use of resources for screening populations; and an enhanced experience for people with or at risk of breast cancer and their families. The challenge to funding bodies and researchers in all disciplines is to focus on these gaps and to drive advances in knowledge into improvements in patient care.

This study compared the psychological impact of two models of breast cancer genetics services in South East Scotland. One hundred and seventy general practices were randomised to refer patients to the existing standard regional service or the novel communitybased service. Participants completed postal questionnaires at baseline (n ¼ 373), 4 weeks (n ¼ 276) and 6 months (n ¼ 263) to assess perceived risk of breast cancer, subjective and objective understanding of genetics and screening issues, general psychological distress, cancer worry and health behaviours. For participants in both arms of the trial, there were improvements in subjective and objective understanding up to 4 weeks which were generally sustained up to 6 months. However, improvements in subjective understanding for the women at low risk of breast cancer (i.e. not at significantly increased risk) in the standard service arm did not reach statistical significance. Cancer worry was significantly reduced at 6 months for participants in both arms of the trial. The two models of cancer genetics services tested were generally comparable in terms of the participants' psychological outcomes. Therefore, decisions regarding the implementation of the novel community-based service should be based on the resources required and client satisfaction with the service. Media attention to scientific developments in cancer genetics has resulted in a greatly increased demand for cancer genetics services. These services aim to identify individuals who have inherited a significantly increased risk of cancer in order to counsel them about their risks and to offer appropriate risk management to reduce morbidity and mortality. There is a challenge to provide this information in ways that the lay public can utilise to inform their health-care choices without causing undue psychological distress. Individuals who are not at significantly increased risk also need appropriate reassurance without precluding an appropriate vigilance to symptoms of sporadic cancer. There is also a challenge to respond to these new developments within existing health-care budgets. Internationally, there is a lack of consensus about how best to deliver cancer genetic services (Steel et al, 1999) and an urgent need for empirical evidence to inform service development.A survey of 22 regional cancer genetics services in the UK in 1998 reported that the predominant users of these services were women with a family history of breast cancer (Wonderling et al, 2001). Of the women who are diagnosed with breast cancer, about 10% report having a family history of the disease (Narod, 2002). Of these cases, only a small proportion will be due to inherited genetic mutations in one of the known susceptibility genes, BRCA1 and BRCA2. These genetic mutations give rise to increased lifetime risks of developing the disease, often at an earlier age than is the norm for sporadically occurring cases.Brain et al (2000) showed that there was no difference in the effectiveness of multidisciplinary cancer genetics teams and b...