Cancer genetic risk assessment for individuals at risk of familial breast cancer.

BACKGROUND: The recognition of an inherited component to breast cancer has led to an increase in demand for information, reassurance, and genetic testing, which has resulted in the creation of genetic clinics for familial cancer. The first step for patients referred to a cancer genetic clinic is a risk assessment. OBJECTIVES: To evaluate the impact of cancer genetic risk-assessment services on patients at risk of familial breast cancer. SEARCH METHODS: The specialised register maintained by the Cochrane Breast Cancer Group was searched on 16th February 2005. We also searched MEDLINE, EMBASE, CINAHL, PsycLIT, CENTRAL, DARE, ASSIA, Web of Science, SIGLE and LILACS. The original searches covered the period 1985 to February 2005. We also handsearched relevant journals. For this review update the search was repeated through to April 2011. SELECTION CRITERIA: We considered trials looking at interventions for cancer genetic risk-assessment services for familial breast cancer for inclusion. Trials assessed outcomes such as understanding of risk, satisfaction and psychological well-being. We excluded studies if they concerned cancers other than breast cancer or if participants were not at risk of inherited breast cancer. We also excluded trials concerning the provision of general cancer genetic information or education as this review was concerned with the delivery of genetic risk assessment. Participants could be individuals of any age or gender, with or without a known BRCA mutation, but without a previous history of breast cancer or any other serious illness. DATA COLLECTION AND ANALYSIS: Two review authors independently assessed trial quality and extracted data. Additional information was sought from investigators as necessary. Due to the heterogeneity of both the interventions and outcomes, we reported data descriptively. MAIN RESULTS: In this review update, we included five new trials, bringing the total number of included studies to eight. The included trials (pertaining to 10 papers), provided data on 1973 participants and assessed the impact of cancer genetic risk assessment on outcomes including perceived risk of inherited cancer, and psychological distress. This review suggests that cancer genetic risk-assessment services help to reduce distress, improve the accuracy of the perceived risk of breast cancer, and increase knowledge about breast cancer and genetics. The health professional delivering the risk assessment does not appear to have a significant impact on these outcomes. AUTHORS' CONCLUSIONS: This review found favourable outcomes for patients after risk assessment for familial breast cancer. However, there were too few papers to make any significant conclusions about how best to deliver cancer genetic risk-assessment services. Further research is needed assessing the best means of delivering cancer risk assessment, by different health professionals, in different ways and in alternative locations.

Telegenetics: a systematic review of telemedicine in genetics services.

PURPOSE: Telemedicine is being increasingly used in many areas of health care, particularly to reduce the barriers that rural populations face in accessing health-care services. Telemedicine may also be effectively utilized in clinical genetics services­an application that has been termed "telegenetics." METHODS: A systematic review of the literature was conducted to identify studies of genetic consultations carried out through video conferencing so as to determine whether conclusions can be drawn about the value of telegenetics. A total of 14 articles reporting data from 12 separate studies met the inclusion criteria. RESULTS: In a majority of these studies, patients received their telegenetics consultation at a local clinic or outreach center, from where they communicated via a synchronous video link with a genetic spractitioner. All the studies reported high levels of patient satisfaction with telegenetics,and patients were generally more receptive to telegenetics than the genetics practitioners were. The studies had limitations of small sample sizes and lack of statistical analyses. CONCLUSIONS: This review suggests that telegenetics may be a useful tool for providing routine counseling and has the potential to evaluate pediatric patients with suspected genetic conditions. Prospective,fully powered studies of telegenetics that explore the accuracy of diagnoses and patient outcomes are needed to allow informed decisions to be made about the appropriate use of telemedicine in genetics service delivery.

An online resource of digital stories about cancer genetics: qualitative study of patient preferences and information needs.

BACKGROUND: The Cancer Genetics Service for Wales (CGSW) was established in 1998 as an all-Wales service for individuals with concerns about their family history of cancer. CGSW offers a range of services such as risk assessment, genetic counseling, and genetic testing. Individuals referred to cancer genetics services often have unmet information and support needs, and they value access to practical and experiential information from other patients and health professionals. As a result of the lifelong nature of genetic conditions, a fundamental challenge is to meet the ongoing needs of these patients by providing easily accessible and reliable information. OBJECTIVES: Our aims were to explore how the long-term information and support needs of CGSW patients could be met and to assess whether an online bank of digital stories about cancer genetics would be acceptable to patients. METHODS: In 2009, CGSW organized patient panels across Wales. During these events, 169 patients were asked for their feedback about a potential online resource of digital stories from CGSW patients and staff. A total of 75 patients registered to take part in the project and 23 people from across Wales agreed to share their story. All participants took part in a follow-up interview. RESULTS: Patient preferences for an online collection of cancer genetics stories were collected at the patient panels. Key topics to be covered by the stories were identified, and this feedback informed the development of the website to ensure that patients' needs would be met. The 23 patient storytellers were aged between 28 and 75 years, and 19 were female. The digital stories reflect patients' experiences within CGSW and the implications of living with or at risk of cancer. Follow-up interviews with patient storytellers showed that they shared their experiences as a means of helping other patients and to increase understanding of the cancer genetics service. Digital stories were also collected from 12 members of staff working at CGSW. The digital stories provide reliable and easily accessible information about cancer genetics and are hosted on the StoryBank website (www.cancergeneticsstorybank.co.uk). CONCLUSIONS: The Internet is one mechanism through which the long-term information and support needs of cancer genetics patients can be met. The StoryBank is one of the first places where patient and staff stories have been allied to every aspect of a patient pathway through a service and provides patients with an experiential perspective of the cancer genetics "journey." The StoryBank was developed in direct response to patient feedback and is an innovative example of patient involvement in service development. The stories are a useful resource for newly referred patients, current patients, the general public, and health care professionals.

From passive subject to active agent: the potential of Citizens' Juries for nursing research.

The nursing profession needs to have a greater appreciation of how techniques such as Citizens' Juries can be used in nursing research. This paper explains the concept of Citizens' Juries and how it is being used as a form of social research, that can simultaneously increase public participation in policy making. Participation has become a key component of the discourse in policy making, and public participation initiatives can be one way of bridging the democratic deficit. For nursing, Citizens' Juries offer a way of discovering lay people's considered judgment on key policy issues, while also providing a potentially powerful platform for citizens to express their concerns and priorities, thereby influencing the services they receive. A Citizens' Jury brings together a small group of people over a period of time and presents them with a policy question. The jurors listen to expert witnesses, examine the evidence, deliberate on the issues and arrive at a policy decision or set of recommendations. In this paper we argue that any ordinary person given the opportunity, enough time and the necessary resources can make decisions about complex policy matters. Key findings from two Citizens' Juries on genetics in Wales are offered as case studies.

Identifying future models for delivering genetic services: a nominal group study in primary care.

BACKGROUND: To enable primary care medical practitioners to generate a range of possible service delivery models for genetic counselling services and critically assess their suitability. METHODS: Modified nominal group technique using in primary care professional development workshops. RESULTS: 37 general practitioners in Wales, United Kingdom too part in the nominal group process. The practitioners who attended did not believe current systems were sufficient to meet anticipated demand for genetic services. A wide range of different service models was proposed, although no single option emerged as a clear preference. No argument was put forward for genetic assessment and counselling being central to family practice, neither was there a voice for the view that the family doctor should become skilled at advising patients about predictive genetic testing and be able to counsel patients about the wider implications of genetic testing for patients and their family members, even for areas such as common cancers. Nevertheless, all the preferred models put a high priority on providing the service in the community, and often co-located in primary care, by clinicians who had developed expertise. CONCLUSION: There is a need for a wider debate about how healthcare systems address individual concerns about genetic concerns and risk, especially given the increasing commercial marketing of genetic tests.

Reactions of GPs to a triage-controlled referral system for cancer genetics.

BACKGROUND: The demand for genetic services is increasing as public awareness about 'predictive' tests increases and commercial marketing initiatives develop. In the UK, genetic services vary widely between regions. To manage demand, an all-Wales cancer genetics service based on telephone triage and referral guidelines was designed and implemented. OBJECTIVES: The aim of this study was to examine the reactions of GPs to a cancer genetics service controlled by referral guidelines and a triage system, and the perceived impact genetics will have on general practice. METHODS: We conducted a structured qualitative study in primary care using sequential focus group discussions with 14 GPs, representing 12 practices divided into two groups (service providers and educationalists). The doctors were introduced to the 'new' genetics, briefed about the service and the referral guidelines and given an outline of the topics to be discussed. All discussions were recorded, transcribed and analysed. RESULTS: The GPs in this study had not considered how they and their teams would handle the practical implications of the 'new' genetics. They had no major objections to a triage system as a means of regulating access to a scarce specialist service, but were concerned about two issues. First, that an insistence on the completion of a postal questionnaire as a means of obtaining an initial assessment could disadvantage some individuals and, secondly, that it was not clear to either the GP or the patient that the risk assessment would be undertaken by a telephone interview. Although there was some concern about yet another set of referral guidelines, participants accepted that the potential demand for cancer genetics services had to be regulated. CONCLUSION: The acceptance by GPs of this triage system represented a reluctant acknowledgement that primary care, in its present organizational form, cannot provide high quality genetic counselling. However, the realization that this represented a relinquishment of the normal generalist role led to the emergence of ambivalence and a wish to consider how best to accommodate this new need in primary care.