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.

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 services-an application that has been termed "telegenetics." METHODS: A systematic review of the literature was conducted to identify studies of genetic consultations carried out through videoconferencing 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 genetics practitioner. 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.

Withdrawal from familial ovarian cancer screening for surgery: findings from a psychological evaluation study (PsyFOCS).

OBJECTIVE: A prospective psychological evaluation study of familial ovarian cancer screening (PsyFOCS) is underway in partnership with the UK Familial Ovarian Cancer Screening Study (UK FOCSS Phase 2). One of the aims of PsyFOCS is to examine factors associated with withdrawal from the UK FOCSS prior to the onset of 4-monthly screening. METHOD: 1999 of 3224 women completed a baseline questionnaire. 110 (5.5%) women withdrew from screening prior to their first routine Phase 2 screen, of which 73 (66.4% of withdrawals) had withdrawn because they had undergone removal of their ovaries and fallopian tubes (withdrawn group). The comparison group consisted of 1868 women who remained on screening. The baseline questionnaire included measures of cancer-specific distress, anxiety, depression and illness perceptions. RESULTS: Logistic regression analysis indicated that having had prior annual (Phase 1) screening (OR=13.34, p<.01), past experience of further tests (OR=2.37, p<.01) and greater cancer-specific distress (OR=1.38, p<.01) were associated with withdrawal for surgery. Belief in ageing as a cause of ovarian cancer was also associated with withdrawal (OR=1.32, p=.05). CONCLUSION: These cross-sectional data suggest that withdrawal from familial ovarian cancer screening may be influenced by both clinical and psychological factors. These may reflect women's experience of the drawbacks of screening and increased concern about ovarian cancer risk, as well as having opportunities to consider surgery as an alternative risk management strategy whilst using screening as an interim measure.

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.

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.

The National DNA Database on trial: engaging young people in South Wales with genetics.

While there has been research conducted on public views about ethical and social aspects of the National DNA Database (NDNAD), there is little which focuses on views of young people, in particular those whose details are held on the NDNAD. We describe an engagement activity developed in South Wales to engage young offenders with ethical and social issues surrounding the NDNAD--a Mock Trial--and how we facilitated the presentation of their views to policy makers. We discuss the successes and challenges we encountered with engaging young offenders, decisions that the young people reached about possible future policies for the NDNAD at the Mock Trial, and their contribution to the decision-making process.

How risk is perceived, constructed and interpreted by clients in clinical genetics, and the effects on decision making: systematic review.

As an individual's understanding of their genetic risk may influence risk management decisions, it is important to understand the ways in which risk is constructed and interpreted. We systematically reviewed the literature, undertaking a narrative synthesis of 59 studies presenting data on the ways in which individuals perceive, construct and interpret their risk, and the subsequent effects. While most studies assessed perceived risk quantitatively, the combined evidence suggests individuals find risk difficult to accurately quantify, with a tendency to overestimate. Rather than being a stand-alone concept, risk is something lived and experienced and the process of constructing risk is complex and influenced by many factors. While evidence of the effects of perceived risk is limited and inconsistent, there is some evidence to suggest high risk estimations may adversely affect health and lead to inappropriate uptake of medical surveillance and preventative measures by some individuals. A more focused approach to research is needed with greater exploration of the ways in which risk is constructed, along with the development of stronger theoretical models, to facilitate effective and patient-centered counseling strategies.

Process and outcome in communication of genetic information within families: a systematic review.

The communication of risk is a central activity in clinical genetics, with genetic health professionals encouraging the dissemination of relevant information by individuals to their at-risk family members. To understand the process by which communication occurs as well as its outcomes, a systematic review of actual communication in families about genetic risk was conducted. Findings from 29 papers meeting the inclusion criteria were summarised and are presented narratively. Family communication about genetic risk is described as a deliberative process, in which: sense is made of personal risk; the vulnerability and receptivity of the family member is assessed; decisions are made about what will be conveyed; and the right time to disclose is selected. The communication strategy adopted will depend on these factors and varies within families as well as between families. Inherent in these processes are conflicting senses of responsibility: to provide potentially valuable information and to prevent harm that may arise from this knowledge. However, the research 'outcomes' of communication have been professionally determined (number of relatives reported as informed, uptake of testing, knowledge of the recipient) and are typically unrelated to the concerns of the family member. The impact of communication on the individual, family members, and family relationships is of concern to the individual conveying the information, but this is largely self-reported. Currently, there is insufficient information to inform the development of theoretically and empirically based practice to foster 'good' communication. The implications for future research are discussed.

Attitudes of genetic clinicians in Wales to the future development of cancer genetics services.

RATIONALE: Cancer genetics is one of the fastest-growing areas of clinical genetics and it is imperative to identify how services should be organized and delivered in the future. METHODS: A qualitative study utilizing focus group methodology which explored the attitudes of clinicians working in the Medical Genetics Service for Wales to a number of possible models for future service delivery. RESULTS: There was no consensus for any particular model. Greater involvement of primary care practitioners is anticipated, but this requires investment in information, education and professional development initiatives. Self-referrals were not encouraged, though the promotion of genetic literacy amongst the general population was supported, particularly in conjunction with pharmacists. CONCLUSION: As demand for cancer genetics services continues to increase, some consensus about the future delivery of such services is necessary. Consultation with other stakeholder groups, especially primary care practitioners and patients, should also contribute to service planning.

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.

The information needs of men with breast cancer.

The information needs of men with breast cancer are under-researched. This article uses questionnaire data from 161 men with breast cancer, and in-depth interview data from a sample of 30 of these men, to explore perceptions of information needs and how best to meet these needs. These men typically received verbal information or written information in the form of leaflets or booklets. Generally this information was helpful, was pitched at about the right level and contained the right amount of information, but was of variable relevance given that it had not been developed specifically for men. Men with breast cancer would benefit from receiving gender-specific information, given the limitations of existing information sources. Of all healthcare professionals, breast care nurses were described as being most helpful in terms of providing both information and practical support.

The experiences of men with breast cancer in the United Kingdom.

To investigate the experiences of men with breast cancer across the United Kingdom, a multi-phase study using: (a) focus groups (n = 4) with men and women with breast cancer and with healthcare professionals; (b) questionnaires to men with breast cancer (n = 161); (c) follow-up interviews with these men (n = 30) and (d) reconvening the focus groups (n = 2) for the men and women with breast cancer. The majority of men (84%, n = 135) reported their symptoms early, but were shocked to receive a breast cancer diagnosis. Disclosure of the diagnosis was commonly made to partners (80%, n = 129) and other close family and was influenced by perceptions of embarrassment, stigma and altered body image. Very little information was available to participants; that which was available was often inappropriate as it was intended for women. Over half the sample wanted much more information (56%, n = 90). This study also demonstrated low utilisation of formal support services and initiatives are needed to improve the information and support provided to men with breast cancer after diagnosis and treatment. Increasing the profile of breast cancer in men generally amongst healthcare professionals and the public is also needed.

Pedigree construction and disease confirmation: a pilot study in Wales exploring the role of nonclinical personnel.

Pedigree construction and disease confirmation are the means by which reported family histories are translated into a verified clinical tool informing risk assessment and management decisions by clinical genetics staff. In this study, we hypothesised that pedigree generation data processes do not generally require the clinical expertise of genetic counsellors and that they could be successfully transferred to nonclinical data administrators. We made a pragmatic comparison of two processes of pedigree generation by different personnel from 14 consecutive family history questionnaires containing 88 living and decease affected individuals. The pedigrees generated by the genetic counsellor and the data administrator were compared; discrepancies were quantified and their source determined. The information gathered by the data administrator mirrored that of the genetic counsellors in 89% of cases. Time was saved by permitting direct access to cancer registry and local oncology centre databases. Constructing a pedigree is not always a case of transferring clear-cut data. Decisions need to be made about which cancers to confirm. Notable differences emerged in the number of pieces of information not transferred. Ambiguous information was often interpreted differently, suggesting the need for clinical staff to review pedigrees after their initial plotting by the data administrator. This study demonstrates a good degree of concordance between pedigrees constructed by a nonclinical data administrator and those of experienced genetic counsellors. However, the redirection of all pedigree activity to nonclinical personnel up to the point of risk review is not possible at present.

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.

'The edge effect': an exploratory study of some factors affecting referrals to cancer genetic services in rural Wales.

This exploratory study examines the role of rurality in referrals from primary care to the Cancer Genetics Service for Wales (CGSW) through a case study of referrals from Montgomeryshire, a predominantly rural area in mid-Wales located adjacent to the English border. Awareness of CGSW amongst practitioners is low. We found that rurality plays a role in referral behaviour as distance, time travelling and accessibility by car and public transport are all perceived to have an impact on the patient's decision to attend a clinic appointment. Some patients are being referred outside Wales as ease of access to services is considered more important than distance.

The ManVan: a mobile cancer support service for men with prostate, testicular and penile cancer in Wales.

The ManVan commenced service delivery on 1st April 2014 and is the United Kingdom's first dedicated mobile support service for men affected by prostate, testicular, and penile cancer. It is delivered in partnership with Prostate Cancer UK and Movember and fully funded by the Movember Foundation. It brings nursing care, counselling for individuals and couples, group support and welfare rights advice, directly to men living with prostate, testicular and penile cancer in communities across Wales. The ManVan has travelled extensively across Wales during its first year, visiting 94 different locations, across all seven Local Health Board areas. The first half of the year began with a Roadshow where we welcomed thousands of visitors on board, including men and women worried by all sorts of cancer symptoms; their family and friends; health and social care professionals and politicians. The variety of venues the ManVan has visited has included hospitals, supermarkets, social clubs, caravan fairs and rugby grounds to help raise awareness of the ManVan service and identify potential clients. As expected the greatest proportion of visitors are male, particularly older men. In the second half of the year, we focussed on our target audience - men diagnosed with prostate, testicular, or penile cancer and their families. Using a targeted approach to urology clinics across NHS Wales, as well as community-based activity encouraging men from ethnic minorities to visit, we have now taken on 161 clients, many of whom have received more than one ManVan service, and attended on more than one occasion. Most of our clients have prostate cancer, are over the age of 55 years, and are married. Analysis of the early data around the clinical and psychosocial benefits of the services offered on the ManVan is positive and the annualised value of the benefits obtained for ManVan clients equates to more than £300,000 in this first year. There were 3,319 visitors to the ManVan in total during the first year.

Analysing spatial trends in referral patterns to cancer genetics services: a preliminary investigation of regional variations in Wales.

This paper discusses spatial trends in referral patterns to a cancer genetics service. It presents a literature review outlining the paucity of existing research, a preliminary analysis at the Unitary Authority level in Wales and advances a programme of further research to be conducted at a more detailed spatial level. The preliminary analysis shows a weak negative relationship between referral rates from primary care and social deprivation by Unitary Authority (Spearman rank correlation coefficient, sigma = -0.38). There is also a weak positive relationship between average settlement size and referral rates (sigma = +0.28), which taken together may indicate that primary care practices in affluent urban areas are more likely to refer than those in poorer rural areas. Future research will be conducted at a finer spatial scale, and will take into account characteristics of primary care practices and the patients being referred, amongst other variables.

Let's talk about genes, and I dont mean trousers: encouraging cancer genetics literacy amongst children.

Acquiring genetic literacy is one of the most important things a person can do to promote their own and their family's health. Family history-genetics and the shared environment-is a significant risk factor for cancer as well as other common diseases, such as cardiovascular disease and diabetes. A good understanding of family health history should increasingly be used to personalise health messages and promote healthy lifestyles. The Let's Talk About Genes project explored whether it was feasible and acceptable to engage young children in Wales with family history as it relates specifically to cancer, so they increase their cancer genetics literacy over time and become more aware of general health issues that relate to cancer.