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The communication of genomic results to patients and families with rare diseases raise distinctive challenges. However, there is little evidence about optimal methods to communicate results to this group of service users. To address this gap, we worked with rare disease families and health professionals from two genetic/genomic services, one in the United Kingdom and one in the Czech Republic, to co-design that best meet their needs. Using the participatory methodology of Experience-Based Co-Design (EBCD), we conducted observations of clinical appointments (n=49) and interviews with family participants (n=23) and health professionals (n=22) to gather their experience of sharing/receiving results. The findings informed a facilitated co-design process, comprising 3 feedback events at each site and a series of meetings and remote consultations. Participants identified a total of four areas of current service models in need of improvement, and co-designed six prototypes of quality improvement interventions. The main finding was the identification of post-test care as the shared priority for improvement for both health professionals and families at the two sites. Our findings indicate the need to strengthen the link between diagnostics (whether or not a pathogenic variant is found) and post-test care, including psychosocial and community support. This raises implications for the reconfigurations of genomic service models, the redefinition of professional roles and responsibilities and the involvement of rare disease patients and families in health care research.

To what extent are family systems approaches relevant in the genomics era? What difference does it make to remember the wider social context within which ‘problems’ associated with a genetic diagnosis reside? How does this influence the conversations we have with our patients? These questions will be considered in relation to systemic approaches to genetic counseling practice. Narrative therapy with an emphasis on people's strengths, wishes, and ways of resisting the effects of a problem may be a particularly useful framework for genetic counselors. Narrative practice views people as multi‐storied and is concerned with the question of how we encourage people to tell their stories in ways that make them feel stronger. Increased uptake of genomic testing and the number of people seeking genetic counseling present opportunities to consider new ways of working, particularly around support following a new genetic diagnosis. One option is to realize the potential of group interventions. Family therapy and narrative practices have the potential to encourage communication and for families to learn from each other.

Funding Acknowledgements National Institute for Health Research OnBehalf King"s Health Partners Patient & Public Involvement for Inherited Cardiac Conditions (PPIICC) group Background Inherited Cardiac Conditions (ICCs) affect up to 1:200 of the population and is the leading cause of sudden death in the under 40s. Research into developing interventions to support patients as they adjust to their diagnosis and genetic carrier status is underway; an example of which is the Psychoeducational Intervention Supporting patients with an ICC (PISICC) study. To ensure the appropriateness, acceptability and applicability of the intervention, patients and the public were involved in the development of PISICC intervention. Purpose To ensure the relevance and improve the quality of the PISICC study, Patient & Public Involvement for Inherited Cardiac Conditions (PPIICC) group was organised to guide the research project as this progressed through the three phases of the Medical Research Council framework for developing complex interventions. Methods Utilising INVOLVE guidelines, the PPIICC group was initiated by the researcher by inviting patients and families attending a local ICC clinic, members of the patient support group, Cardiomyopathy UK; and members of the existing PPI group of the local biomedical research centre. Ground rules, terms of engagement and provisions for meetings such as rooms, reimbursements for transport costs, childcare and compensation for time was established. The PPIICC group met up to three times per year within a three-year period with electronic exchanges in between. Members gave individual feedback to draft study materials and their views shaped the final versions. A modified Delphi study was used for the development of the PISICC intervention model. Figure 1 illustrates the activities undertaken by the group. Results The involvement of the PPIICC group throughout the development of the PISICC intervention model has contributed to the successful recruitment of 32 participants and completion of the qualitative study in Phase 1. In Phase 2 the group had a crucial role in ensuring that the education component of the PISICC intervention included advice on medication and physical activity; and for the group component of the intervention to include a mixed age group to enable sharing of varied experiences. In planning for Phase 3, the PPIICC group helped ensure that the trial processes for the planned feasibility study were not burdensome to participants which supported its full ethical approval by the UK Health Research Authority. Conclusions Patients and their families played an important role in designing the PISICC study. So far, their involvement has resulted in reaching recruitment targets for Phase 1 of the study, the development of a patient-informed psychoeducational intervention model and feasibility study protocol.

Neuromuscular diseases are rare conditions that present with progressive muscular weakness. As affected children transition into adulthood, they become more physically dependent on their families for support. There is little evidence on the family transition experience, which this study explored to identify experiences, challenges, and strategies of coping.Informed by family systems theory, a constructivist grounded theory study was conducted (2014-2017).Data were collected by one-on-one interviews with a purposive sample of affected Swiss individuals and their families from 2015 to 2016. Data analysis used coding, memo writing, theoretical sampling, and constant comparison techniques.The analysis of 31 interviews with 10 affected individuals and 21 family members resulted in an interpretive theory constituted of four categories: (a) living with physical dependence, while striving for independence; (b) balancing proximity; (c) conforming and challenging social standards and expectations; and (d) grieving for loss, while joining forces for life.Family functioning and well-being were threatened by recurring tension from stress, physical and emotional difficulties, strained relationships, and conflict. The families' strategies of coping and adaptation and their relationships and communication shaped their transition experience.Families that experience threats to their well-being and functioning would benefit from: needs assessment and monitoring; planning of appropriate family interventions; support of family relationships and communication, effective coping, and mastery; and positive adaptation to change.目的: 神经肌肉疾病较为罕见, 常伴随进行性肌无力。受影响儿童成年后, 其身体更依赖家人。截止目前, 针对家庭转型经验的研究近乎为零, 而本研究旨在探讨相关经验、挑战和应对策略。 设计: 以家庭系统理论为指导, 开展一项基于建构主义的理论研究 (2014-2017) 。 方法: 相关数据是通过一对一访谈收集, 且访谈对象为2015年至2016年间受影响的瑞士个人及其家属。在数据分析过程中编码, 编写备忘录, 理论抽样并应用持续比较技术。 结果: 现已对10名受影响个人和21名家庭成员进行31次访谈, 根据访谈分析, 得出四类解释性理论: (a) 身体依赖, 同时争取独立; (b) 接近平衡; (c) 遵守并挑战社会标准和期望; 以及 (d) 惋惜所失去的,但同时团结面对生活。 结论: 家庭功能和幸福感受到压力、身体和情绪困扰、紧张关系、冲突以及其他反复出现的不安因素的影响。家庭的应对策略、适应策略、关系和沟通共同塑造其过渡经历。 影响: 如果某个家庭的幸福和功能受到威胁, 该家庭将因以下几点获益: 评估和监测需求; 规划适当的家庭干预措施; 为家庭关系和沟通予以支持, 有效应对和掌握; 积极适应变化。.

Worldwide, health services are interested in supporting the speedy adoption of research findings into practice. To promote the translation of research into practice, a university in the South of England along with a partner NHS Trust piloted a new role - Translation Fellow (TF). This article describes and analyses the experience of implementing this role. It outlines the successes achieved as a result of this partnership between a university and a healthcare organisation as well as describing the challenges involved in establishing such a role. The successes included submitting a joint abstract to a conference; collaboratively developing articles for publication; organizing a visit overseas to compare similar services; co-designing a database to assist in collecting data for service planning and research, and setting up a 'one click access' web space populated with evidence informed material to support the work of the clinical staff. The pilot acted as a proof of concept in which the TF role demonstrated its potential. Additional roles are already being established in other services in the locality and the role merits wider discussion and testing nationally.

Genetic testing is becoming increasingly available for adolescents who are undergoing cancer treatment or at risk of cancer predisposition syndromes. With this narrative review, we aimed to synthesize the evidence on psychosocial outcomes and adolescents' understanding of genetic testing-thus far, an underresearched topic. Both psychological benefits and harms of predictive testing were reported in adolescents from high-risk families. Harms were mainly related to cancer-specific distress and increased worries. Findings on genetic understanding were sparse. Future studies should focus on psychosocial outcomes and adolescents' understanding undergoing genetic testing and enabling access to genetic counseling pre-testing and post-testing.

Sharing genetic risk information in families can be very challenging. However, the consequences of poor communication can be detrimental to the psychological health and well-being of parents and children in the present and the long term. Family nursing can play an important role in supporting family communication about genetic conditions. This role has several components: Firstly, improved assessment of families affected by or at risk from inherited genetic conditions. Secondly, facilitation of families' discussions of genetic risk, especially between parents and children. Family nurses can use an integrated model of family care to support parents and their children in discussion of genetic risk information throughout the child's development, including provision of assistance specifically for young people, who want to discuss the issues they face with informed nurses. Thirdly there is a role for family nurses in educating other specialist nurses in taking a more family-focused approach when they are caring for patients affected by genetic conditions. If the full benefits of genomic technologies are to be recognized and implemented, it is essential that the relational impact of the science be strengthened to enhance family relationships and support genetic risk information sharing.

These recommendations were systematically developed on behalf of the Network for Early Onset Cystic Kidney Disease (NEOCYST) by an international group of experts in autosomal dominant polycystic kidney disease (ADPKD) from paediatric and adult nephrology, human genetics, paediatric radiology and ethics specialties together with patient representatives. They have been endorsed by the International Pediatric Nephrology Association (IPNA) and the European Society of Paediatric Nephrology (ESPN). For asymptomatic minors at risk of ADPKD, ongoing surveillance (repeated screening for treatable disease manifestations without diagnostic testing) or immediate diagnostic screening are equally valid clinical approaches. Ultrasonography is the current radiological method of choice for screening. Sonographic detection of one or more cysts in an at-risk child is highly suggestive of ADPKD, but a negative scan cannot rule out ADPKD in childhood. Genetic testing is recommended for infants with very-early-onset symptomatic disease and for children with a negative family history and progressive disease. Children with a positive family history and either confirmed or unknown disease status should be monitored for hypertension (preferably by ambulatory blood pressure monitoring) and albuminuria. Currently, vasopressin antagonists should not be offered routinely but off-label use can be considered in selected children. No consensus was reached on the use of statins, but mTOR inhibitors and somatostatin analogues are not recommended. Children with ADPKD should be strongly encouraged to achieve the low dietary salt intake that is recommended for all children., This Consensus Statement developed on behalf of the Network for Early Onset Cystic Kidney Disease provides guidance on counselling, diagnosing and monitoring children with autosomal dominant polycystic kidney disease based on current evidence and a multi-stakeholder discussion of ethical issues.

Background Genetic testing in children for hereditary cancer predisposition syndromes (CPSs) involves unique psychosocial and family-systems considerations. This retrospective study explored the perspectives and emotional reactions of parents and young adults about cancer-related genetic counseling and testing offered to children in the family. Methods Families were eligible if they had considered genetic testing for a child (≤18 years) within the family. Parents and young adults ≥16 years participated in semistructured interviews that we coded and identified key themes. We also quantitively assessed emotional distress, quality of life, impact of receiving genetic cancer risk information, and service-related satisfaction. Results From 35 interviews (26 parents, nine young adults), we identified themes spanning families' experiences from referral to genetic services to the longer term impact of receiving information about family cancer risk from testing of children. Supported by quantitative data, families generally described positive experiences of genetic services and reported benefits to genetic testing. Nevertheless, families faced unique emotional and relational challenges that changed over the family lifecycle. Those challenges differed according to whether the child was asymptomatic or had a cancer diagnosis at testing. Parents of children with cancer described genetic consultations as a secondary concern to the immediate stressors of their child's treatment. Conclusions We conclude that the successful integration of cancer genetics into pediatric cancer care requires specialist pediatric genetic counseling and psychosocial support services that are able to respond to families' changing needs.

Background: Evidence suggests patients delay reporting symptoms of neutropenic sepsis (NS) despite the risk to their life. This study aimed to elicit factors that contribute to delayed patient reporting of NS symptoms.Methods: A constructivist grounded theory study used observations of chemotherapy consultations (13 hours) and 31 in-depth interviews to explore beliefs, experiences and behaviors related to NS. Participants included women with breast cancer, their carers (partners, family or friends) and clinicians. An explanation for patient delays was developed through theoretical sampling of participants to explore emerging areas of interest and through constant comparison of data and their coding. This entailed iterative and concurrent data collection and analysis. Data were collected until saturation.Results: All patients who developed NS type symptoms delayed presenting to hospital (2.5 hours - 8 days), sometimes repeatedly. Moderators of delay included metastatic disease, bereavement, fatalism, religious beliefs and quality of relationships with clinicians. There was an interplay of behaviours between clinicians, patients and carers where they subconsciously conspired to underplay the seriousness and possibility of NS occurring. Conclusions: Findings have implications for health risk communication and development of holistic service models.

Despite advances in medical science, patient death and family bereavement are commonly encountered in adult intensive care units (ICUs). This is the first review to investigate the state of ICU bereavement support globally, and the availability and effectiveness of bereavement support interventions. A systematic review and narrative synthesis. Medline, CINAHL Plus, PsycINFO, Web of Science, EMBASE were searched and inclusion/exclusion criteria were applied. Included studies were appraised using relevant appraisal tools. Fourteen papers formed the review; five of which were international surveys reporting variable bereavement practices and levels of support. A lack of training and resources were identified barriers. Nine papers reported the effectiveness of primarily discrete bereavement support interventions including: a personal memento, a handwritten condolence letter, a post-death meeting; storytelling, research participation, use of an ICU diary. One study evaluated a bereavement follow-up program. Generally, all identified interventions were well accepted by bereaved families. The reviewed evidence was weak, and findings were contextually bound. As such, it is difficult to make recommendations for the most acceptable and effective bereavement support intervention(s). Bereavement support in ICU needs further exploration and clinicians must be adequately trained and supported for the delivery of evidence-informed, culturally competent care. [Abstract copyright: Crown Copyright © 2018. Published by Elsevier Inc. All rights reserved.]

The potential impact of social media use in nursing education, continuing professional development, and nurses' advocacy is unfolding at a rapid pace. Nurse educators are uniquely placed to incorporate the use of social media to enhance students' learning experiences and support students to develop competency in the use of social media for patient benefit. This paper outlines a novel way in which professional education on social media use was integrated into an undergraduate nursing programme. Digital professionalism was cultivated together with collaborative active learning. Students connected using the Twitter hashtag #kclciat18 registered for the 'Connecting it all Together 2017' conference held at the Florence Nightingale Faculty of Nursing, Midwifery & Palliative Care, King's College London. Students were invited to participate in an education session on social media, and live activities using Twitter. The conference provided students with a forum to learn about Twitter and practice using Twitter in a professional capacity. Utilising the healthcare conference hashtag repository, Symplur, quantitative and qualitative measures were accessible indicating the reach and extent of connectivity. A combination of qualitative and quantitative outcome measures will help student nurses appreciate the power of Twitter for patient benefit.

Within the field of breast cancer care, women concerned about their family history are offered genetic testing and subsequent treatment options based on several factors which include but are not limited to personal and family cancer disease histories and clinical guidelines. Discussions around decision-making in genetics in Black and Minority Ethnic (BME) groups are rarely documented in literature, and information regarding interactions with genetics services is usually discussed and linked to lack of scientific knowledge. As such, counselling sessions based only on scientific and medical information miss out the many reasons participants consider in making health decisions, information which can be used to encourage BME women to engage in cancer genetics services. 10 BME women with a mixed personal and family history of breast and ovarian cancer backgrounds, were interviewed in a study exploring issues of knowledge about familial breast cancer syndromes, to understand how they created and used familial knowledge for health decisions, with a particular focus on attitudes towards risk reducing strategies. Study results show that our participants are not unique in the ways they make decisions towards the use of cancer genetics and risk reduction strategies and as such, there are no specific ethnically defined pathways for decision-making. Our participants demonstrated mixed biomedical, social and individual cultural reasons for their decision-making towards risk reduction surgeries and treatment options which are similar to women from different ethnicities and are individual rather than group-specific. Narratives about suspicion of scientific utility of genetic knowledge, the perceived predictive value of mutations for future cancers or the origin of mutations and family disease patterns feature heavily in how participants evaluated genetic information and treatment decisions. The diversity of results shows that our participants are interested in engaging with genetic information but use multiple sources for evaluating the extent of involvement in genetic services and the place of genetic information and treatment options for themselves and their families. Genetic information is considered within various bio-social scenarios before decision-making for risk reduction is undertaken. BME women are shown to undertake evaluative processes which clinicians are encouraged to explore for better patient support. Continuing to focus on links between superficial and un-representative meanings of ethnicity, ethnic identity and attitudes and behaviours by only searching for differences between ethnic groups, are unhelpful in further understanding how women from those diverse backgrounds make decisions towards risk reduction interventions. Future research must find ways of investigating and understanding populations in ways that are not focussed solely on ethnic differences but on how meaning is created out of social circumstances and experiences. [Abstract copyright: Copyright © 2018 Elsevier Masson SAS. All rights reserved.]

When a boy is diagnosed with an X-linked condition such as Duchenne or Becker muscular dystrophy (D/BMD), the mother learns not only of her own potential carrier risk but also that of her daughters. Before the daughters are seen in the Genetics Clinic, responsibility for disclosing carrier risk information falls mainly to their mothers. We know little about if when and how these daughters are being told about their risk, and how mothers find the experience. Should we be doing more to help and support them? Using qualitative methods, six mothers known to the Manchester Centre for Genomic Medicine were interviewed about the disclosure of D/BMD carrier risk information to their daughters. The four key themes that arose are presented: communication process, facilitators of disclosure, barriers to disclosure and support and information. Despite the participants’ endeavours to be open and honest with their daughters and their belief that they had fully disclosed, key information was often withheld. Major barriers to discussion of the future, including reproductive options, were apparent. These were partly overcome by the involvement of genetic counsellors (GCs). The participants suggested a greater involvement of GCs, proactively sending appointments and written information, and offering carrier testing more flexibly. Electronic supplementary material The online version of this article (10.1007/s10897-018-0251-7) contains supplementary material, which is available to authorized users.

Genetic information is a family affair. With the expansion of genomic technologies, many new causal genes and variants have been established and the potential for molecular diagnoses increased, with implications not only for patients but also their relatives. The need for genetic counseling and intrafamilial circulation of information on genetic risks grew accordingly. Also, the amount and, particularly, the complexity of the information to convey multiplied. Sharing information about genetic risks with family members, however, has never been an easy matter and often becomes a source of personal and familial conflicts and distress. Ethical requisites generally prevent healthcare professionals from directly contacting their consultands' relatives (affected or still at risk), who often feel unsupported throughout that process. We discuss here the communication of genetic risks to family members. We first consider genomic testing as a basis for family-centered health care, as opposed to a predominant focus on the individual. We reviewed the literature on sharing genetic risk information with family members, and the associated ethical issues for professionals. Some clinical cases are presented and discussed, and key issues for meeting the needs of individuals and families are addressed. We argue that genetic information is inextricably linked to the family and that communicating about genetic risks is a process grounded within the broader milieu of family relationships and functioning. We conclude for the need for a more family-centered approach and interventions that can promote sensitive attitudes to the provision of genetic information to and within the family, as well as its inclusion in educational and training programmes for genetic healthcare professionals.

Objective To explore men's experiences of their partner's altered physique and body image as a result of mastectomy and subsequent reconstructive surgeries. Design A systematic review of qualitative and mixed-methods studies. Data sources Ovid, EBSCOhost, Web of science, SCOPUS and ASSIA ProQuest databases were searched using 1) truncations of breast cancer, hereditary breast cancer and BRCA 2) words relating to partner relationships; spouse, husband, partner, men and couple 3) breast cancer surgeries; mastectomy, prophylactic mastectomy and breast reconstruction and 4) body image. Review method Methodological rigour was quality assessed. Results A total of 756 citations were retrieved. Seventeen articles remained following the removal of duplicates, papers unrelated to breast cancer, male breast cancer, papers that excluded men's experiences of their partner's breast cancer and altered body image. Thematic analysis was applied and produced five themes: experiences of the altered body, communication, impact on relationship, information giving and recommendations. Conclusion Men indicated that perceptions of their partner's altered physique and body image, following mastectomy, was secondary to their health. Some men were distressed by their partner's bodily alterations leading to highly complex and emotive coping mechanisms. Men found talking to their partner about physique and body image challenging. Closed communication, however, often led to conflict and poor psychological well-being in both partners. To help prepare for the changes to their partner's body, men desired tailored information. Effective information giving contributes to effective coping strategies helping men to better support their partner affected or at risk from breast cancer, leading to enhanced psychological and emotional well-being in couples.

While pregnant women’s views about antenatal screening have been widely researched, those of expectant fathers remain underexplored. Interviews were thus conducted with 12 men and 6 women, either during pregnancy or soon after birth. Findings suggested that the men started to construct a schema of their child and a paternal identity even before she/he was born. One of the paternal responsibilities men encountered was to participate in screening. However, men’s ideas, beliefs, and feelings about being a father and about the future child were challenged by the receipt of screening results. Their child-schema became splintered into a wanted, imagined child and the at-risk fetus. Moreover, their paternal identity became fragmented into genetic and social components. Screening thereby caused some disruption in men’s experience of impending fatherhood and of pregnancy, eliciting ambivalence and confusion. Further research is now required to explore the issues raised in the study.

Aim To present an overview of the main components of randomised controlled trials and identify issues for consideration during their design and management. Background Randomised controlled trials (RCTs) are considered to be the gold standard for determining causality and can provide high quality evidence to inform nursing practice. Data sources A search of online databases and websites was undertaken to identify relevant contemporary literature to inform the discussion. Discussion/Conclusion Conducting a robust randomised controlled trial can present researchers with numerous challenges and practical considerations. The importance of taking account of the Consort guidelines during their design, conduct and reporting is emphasised. Implications for research/practice Evidence from well conducted RCTs contributes to the development of effective nursing interventions. To avoid bias and ensure valid results, the design, conduct and reporting of RCTs should follow the Consort guidelines. Service users should be involved in the design and management of RCTs.

The clinical advantages of the newborn screening programme (NBS) in the UK are well described in the literature. However, there has been little exploration of the psychosocial impact on the family. This study followed the principles of grounded theory to explore parents' experiences of receiving the initial positive NBS result for their child with cystic fibrosis (CF) or sickle cell disease (SCD). Semi-structured, qualitative interviews were conducted with 22 parents (12 mothers and 10 fathers) whose children had been diagnosed with CF or SCD via NBS and were under the age of 1 year at the time of interview. The main themes that arose from the data were; parents previous knowledge of the condition and the NBS programme, the method of delivery and parental reactions to the result, sharing the results with others, the impact on parental relationships and support strategies. Study conclusions indicate that most parents thought initial positive NBS results should be delivered by a health professional with condition specific knowledge, preferably with both parents present. Genetic counselling needs to include a focus on the impact of NBS results on parental relationships. Careful consideration needs to be given to strategies to support parents of babies who have positive NBS results both in terms of the psychological health and to assist them in sharing the diagnosis.

Innovations in clinical genetics have increased diagnosis, treatment and prognosis of inherited genetic conditions (IGCs). This has led to an increased number of families seeking genetic testing and / or genetic counselling and increased the clinical load for genetic counsellors (GCs). Keeping pace with biomedical discoveries, interventions are required to support families to understand, communicate and cope with their Inherited Genetic Condition. The Socio-Psychological Research in Genomics (SPRinG) collaborative have developed a new intervention, based on multi-family discussion groups (MFDGs), to support families affected by IGCs and train GCs in its delivery. A potential challenge to implementing the intervention was whether GCs were willing and able to undergo the training to deliver the MFDG. In analysing three multi-perspective interviews with GCs, this paper evaluates the training received. Findings suggests that MFDGs are a potential valuable resource in supporting families to communicate genetic risk information and can enhance family function and emotional well-being. Furthermore, we demonstrate that it is feasible to train GCs in the delivery of the intervention and that it has the potential to be integrated into clinical practice. Its longer term implementation into routine clinical practice however relies on changes in both organisation of clinical genetics services and genetic counsellors’ professional development.

Introduction The transition into adulthood is a developmental stage within the life cycle. A chronic childhood condition can disrupt this transition and create major challenges for both the young person and his or her family. Little is known about families' experiences when living with a rare genetic disease. Therefore, the purpose of this literature review was to understand experiences of families living with a chronic childhood disease during transition into adulthood by integrating evidence. Method A systematic review using an integrative approach to data inclusion and analysis comprising qualitative, quantitative and other methodological studies about a range of genetic and chronic childhood diseases was undertaken to identify relevant information. Databases searched were PubMed, Cochrane Library, PsychINFO, CINAHL, and AMED, using the search terms (1) family, caregivers, young adult, adolescent; (2) adolescent development, transitional programs, transition to adult care; (3) muscular dystrophy, spinal muscular atrophy, cystic fibrosis, haemophilia and sickle cell disease. Study findings were critically appraised and analyzed using critical interpretive synthesis. Results A total of 8116 citations were retrieved. 33 studies remained following the removal of duplicates, papers unrelated to genetic childhood conditions and families' experiences of the transition into adulthood. Findings provided three perspectives: (1) the young person's perspective on how to "live a normal life in an extraordinary way" and "manage a chronic and life threatening disease"; (2) the parent perspective on the "complexity of being a parent of a chronically ill child" and "concerns about the child's future" and (3) the sibling perspective on "concerns about the siblings future". As a consequence of the genetic childhood condition, during the ill family members' transition into adulthood all family members were at risk for psychosocial difficulties as they mutually influenced each other. Previous research focused predominately on the individual illness experience, and less emphasis was put on the family perspective. Conclusions Young people and their family members experienced multiple challenges and not only for the ill individual but also there were consequences and health risks for the whole family system. Therefore, a family systems perspective to research and care is indicated to assist affected families to cope with their complex life and health situation.

PURPOSE: Women carrying the mutated BRCA gene, have approximately an 80% life-time risk of developing breast cancer with 50% risk of their children inheriting the gene mutation. Many parents find it difficult to know when and how to disclose this information to their children and how such disclosure might affect their child's future decision-making. METHOD: This study explored the communication of genetic risk information in families using qualitative semi-structured interviews conducted with parents, children (7-11years) and young people (12-18years) affected or at risk from a BRCA gene mutation. Thematic analysis was applied to coded transcripts producing four themes; family communication, perception of cancer risks, risk management strategies and impact of genetic risk communication in children and young people's decision making. RESULTS: Twenty-seven individuals from 11 families took part, recruited through purposive sampling techniques. Cancer risk caused by a BRCA gene mutation induced a sense of fear in parents about their children's future. As a result, parents with hereditary breast cancer disclosed limited information about the risks associated with prophylactic surgery and/or the psychological and emotional impacts of surgery on body image. This had implications to children and young people's perceptions of prophylactic procedures, which were already influenced by cultural understandings of the 'desirable body' and increasing acceptance and proliferation cosmetic surgery. CONCLUSION: Lack of risk management information and the acculturation of cosmetic surgery combined to limit children and young people's understanding of the impact of hereditary breast cancer; reducing their ability to actualise the physiological, psychological and emotional consequences of surgery.

Evidence suggests that patients delay reporting symptoms of neutropenic sepsis (NS) despite the risk to their life. This study aimed to elicit factors that contribute to delayed patient reporting of NS symptoms.A constructivist grounded theory study used observations of chemotherapy consultations (13 h) and 31 in-depth interviews to explore beliefs, experiences, and behaviors related to NS. Participants included women with breast cancer, their carers (partners, family, or friends), and clinicians. An explanation for patient delays was developed through theoretical sampling of participants to explore emerging areas of interest and through constant comparison of data and their coding. This entailed iterative and concurrent data collection and analysis. Data were collected until saturation.All patients who developed NS-type symptoms delayed presenting to hospital (2.5 h-8 days), sometimes repeatedly. Moderators of delay included metastatic disease, bereavement, fatalism, religious beliefs, and quality of relationships with clinicians. There was an interplay of behaviors between clinicians, patients, and carers where they subconsciously conspired to underplay the seriousness and possibility of NS occurring.Findings have implications for health risk communication and development of holistic service models.

Background Giving children and young people information about genetic conditions and associated risk has been shown to be important to their identity, coping and decision making. Parents, however, find talking to their children difficult, and support from health professionals is often not available to them. Objective To explore the role of support groups in family coping, and in assisting parents’ communication about risk with children in families affected by an inherited genetic condition. Methods Semi-structured interviews analysed using grounded theory and informed by models focusing on aspects of family communication. Participants Affected and unaffected children and their parents, from families affected by one of six genetic conditions, that represent different patterns of inheritance, and variations in age of onset, life expectancy and impact on families. Results Parents often sought support they did not receive elsewhere from support groups. They identified benefits, but also potential disadvantages to this involvement. These related to the specific condition and also whether groups were run solely by parents or had professional input. Support groups rarely helped directly with family communication, but attendance often stimulated family discussion, and they provided information that improved parents’ confidence in discussing the condition. Conclusions Support groups should be seen only as additional to the support offered by health and social care professionals. An increased understanding of the role of support groups in assisting families with genetic conditions has been highlighted, but further work is needed to explore more fully how this may be made more sustainable and far-reaching.

Little is known about how parents explain to their children their risk of inheriting a gene that may cause disease in the child or in the child's future progeny. This study explored how genetic risk information is shared between family members and the factors affecting it, to ascertain the implications for children, young people and their parents to inform future service development and provision. A volunteer group of parents, children (8–11 years) and young people (12+ years) in families affected by or at risk of one of six inherited genetic conditions was interviewed. The semi-structured interviews explored the roles of family members, the language used and the self-reported psychological outcomes in a discussion on genetic risk information. The findings were analysed using grounded theory. A total of 33 families participated, which included 79 individuals. Parents often found discussing genetic risk information very difficult and emotionally painful. Discussions were not usually planned and often a major event prompted parents to finally explain genetic risks to their children; however, children usually preferred to learn about the genetic condition gradually throughout childhood. Parents identified a number of challenges they faced related to talking to children, and many thought health professionals should provide more advice to assist them in providing developmentally appropriate information. We therefore conclude that greater emphasis is required in supporting parents and children in discussing genetic risk information throughout their child's development. Open communication about genetic risks throughout childhood seemed to help children and parents cope better and come to terms with the implications of the genetic condition.

Care of the family is integral to palliative care, but little attention has been paid to the way nurses, or other healthcare professionals, are responding to the needs of families who are concerned about whether their family history of cancer is associated with an inherited genetic predisposition. This paper discusses how palliative care nurses perceive the care needs of patients with a family history of cancer. Data were collected through recorded, semi-structured interviews with 10 nurses who had worked in specialist palliative care. The findings show that there are cogent arguments and concerns about raising the issue of an inherited genetic predisposition at the end of life (especially when the patient is close to death and there is a lack of knowledge about genetics). Nevertheless, exemplar cases are used to illustrate the reasons why it is important that nurses working in specialist palliative care settings are aware of the needs of this patient group. The paper highlights that nurses not only need an appropriate knowledge base but also an insight of what can be achieved when supporting patients with a family history of cancer.

Background National and local evaluations of clinical genetics service pilots have experienced difficulty in engaging with GPs. Aim To understand GPs9 reluctance to engage with clinical genetics service developments, via an examination of the role of family history in general practice. Design of study Qualitative study using semi-structured one-to-one interviews. Setting The West Midlands, UK. Method Interviews with 21 GPs working in 15 practices, based on a stratified random sample from the Midlands Research Practices Consortium database. Thematic analysis proceeded alongside data generation. Framework grids were constructed for comparative analytical questioning. Interpretation was framed by two explanatory models: a knowledge deficit model, and practice and professional identity model. Results There is a clear distinction between the routine use and function of family history in GPs9 clinical decision making, and contrasting conceptualisations of genetics and ‘genetic conditions’. Although genetics is clearly a part of current GP practice, with acknowledgement of genetic components to multifactorial disease, this is distinguished from ‘genetic conditions’ which are seen as rare, complex single-gene disorders. Importantly, family history takes its place within a broader notion of the ‘family doctor’ that interviewees identified as a key aspect of their role. In contrast, clinical genetics was not identified as a core component of generalist practice. Conclusion The likely effectiveness of educational policy interventions aimed at GPs that focus solely on knowledge deficit models, is questionable. There is a need to acknowledge how appropriate practice is constructed by GPs, within the context of accepted generalist roles and related identities.

Aim. The overall aim of this study is to determine hospice nurses' perception of the importance of genetics to hospice care provision and their personal level of confidence in carrying out genetics-related activities within an end-of-life care context. Background. Hospices nurses regularly care for patients and their families affected by inherited genetic conditions (e.g. some cancers). Therefore, nurses need knowledge and awareness of the implications of genetic conditions and confidence in their abilities to provide appropriate care and support for patients and families. Design. Survey. Method. Questionnaires were sent to a stratified sample of hospice nurses (n = 1149) in England and Wales. Using Likert scales, nurses were asked to rate the importance of and their confidence in undertaking a range of scenario-based activities that accompany caring for a patient and family affected by a genetic condition in the hospice setting. Open questions invited comments on their experiences of nursing patient/family in similar situations. Follow-up telephone interviews were carried out with hospice nurse educators to explore emerging issues. Results. Response rate was 29% (n = 328). Hospice nurses felt that all aspects of genetics-related care were "very important" to hospice care, but lacked confidence in their ability to carry out the activities. Many respondents had not considered the relevance of genetics to hospice-care prior to completing the questionnaire but now considered it essential to end-of-life care even if they were not confident to provide it. Conclusion. Hospice nurses' need genetics education focusing on the psychosocial implications of caring for patients and families affected by genetic conditions to enable them to provide the complex care and support in face of the difficult issues that arise in practice. Relevance to clinical practice. This study highlights the genetics education needs of hospice nurses in providing end-of life care for patients and their families affected by inherited genetic conditions.

In 2003, the UK Department of Health set out the genetics white paper, a plan for action and investment with particular emphasis on integration of genetic health care into primary care. Since the delivery of the genetics white paper, there has been little exploration of UK primary care doctors' attitudes towards extending their role to include provision of routine genetics services. We explored explore general practitioners' (GPs) attitudes towards provision of genetic health care including routine family history screening and familial risk assessment for common disorders in primary care using a quantitative, evaluative postal survey. Only 25% (797 of 3160) of the GPs returned a completed questionnaire. Although 32% of GPs supported collection of family history information and 41.5% familial risk assessment, 18% were not willing to offer these services even if training is provided. Of the GPs, 50% stated they recognized when referral to genetics services is appropriate, although 43% felt unprepared to collect family history or assess familial risk. Lack of training within the last 3 years was a significant predictor of feeling unprepared to undertake these activities (OR = 2.53,p = 0.012). A substantial group of GPs remain unprepared or unwilling to provide genetic health care. GPs' attitudes to delivery of genetic health care are significantly influenced by factors such as a lack of evidence of the direct benefits to patients, local guidelines and specialist services. These factors need addressing if delivery of genetic health care is to be incorporated into routine primary care.

In this article, the authors describe how they worked with children and young people to develop art-based techniques and activities for use in a study exploring family communication about genetic conditions. It highlights key methodological issues about children and young people's participation in research, the concept of what constitutes an art-based activity and how this was applied to developing art-based data collection tools.

Background: Many children receiving hospice care are affected by inherited genetic conditions. To provide appropriate care, children’s hospice nurses require knowledge and awareness of the issues faced by the child and their family along with the implications of having, or being at risk from, an inherited genetic condition. Little is currently known about the competence levels of children’s hospice nurses to support these children and their families. Aim: This study aims to explore how important children’s hospice nurses perceived genetics to be within children’s hospice care provision, and their level of confidence in meeting the care needs of children and their families with a genetic predisposition to disease. Method: This study involved two stages: a single-page survey to children’s hospice directors of nursing designed to determine the nature of children’s hospice care provision in England and Wales. Second, a postal survey using a structured, self-administered questionnaire was sent to nursing staff in a sample of children’s hospices in England and Wales. A total of 277 packs were sent to the hospices for distribution to children’s nurses working in their employment. Likert scales were used to rate the importance of genetic activities relevant to children’s hospices, and nurses’ confidence in performing them. Demographic data were also collected. The results, the discussion of the findings and implications for practice will be discussed in part 2.

Aims and objectives. The aim of the study was to ascertain the level of importance midwives attach to integrating genetics into midwifery care and to compare that with their self-reported level of confidence in incorporating genetics into their clinical practice.Background. Previous work has shown that many midwives feel ill-prepared for the increased integration of genetics into clinical practice and often only limited genetics education provision is in place. With the application of genetics to midwifery practice increasing, it is important that midwives develop their knowledge and skills to meet this growing clinical role. This study was therefore developed to ascertain the attitudes and educational needs of midwives by exploring genetic issues likely to arise in clinical practice and the confidence individuals felt in dealing with them.Design. A survey questionnaire with open and closed questions.Methods. All midwives working in four National Health Service trusts (n = 817) were invited to self-complete the validated questionnaire anonymously. Data were collected on demographics and preferred continued professional development options for future educational programme development. Likert scales were used to rate the importance of genetic activities and midwives' confidence to perform them based on the genetic activities which were first listed and then presented embedded within specific clinical scenarios.Results. The response rate was 51% (n = 416). The majority of midwives felt that genetics was important but many did not feel confident about integrating it into their clinical practice. Across all scenarios > 60% of midwives were not confident on any risk identification or risk communication activities. The majority of midwives were receptive to genetics education particularly if delivered from a clinical rather than a psychosocial or scientific perspective.Conclusion. This study demonstrates the need for midwives' pre- and postregistration education to include clinically relevant genetics. The evidence presented here can inform the design, development and delivery of future educational initiatives.What this study adds. This study was the first to identify the educational needs of midwives related to integrating genetics into midwifery clinical practice. It provides evidence of key topics to be included in educational programmes: referring to specialist genetics services, genetic testing, risk and communicating genetic information. It shows the type and format of course preferred by clinically based midwives: interactive workshops and lectures using clinical patient-based case examples will attract midwives to participate and will be better received by their managers.Relevance to clinical practice. Midwives view genetics as important in their clinical practice. However, they have little confidence in their ability to integrate genetic activities in their current clinical practice. Midwives are receptive to additional genetics education and training. Antenatal and community-based midwives could be targeted initially. Organizers must be responsive to work patterns in planning education sessions, and encourage and support champions from previous courses and specialist areas to promote genetics education in maternity units.Aims and objectives. The aim of the study was to ascertain the level of importance midwives attach to integrating genetics into midwifery care and to compare that with their self-reported level of confidence in incorporating genetics into their clinical practice.Background. Previous work has shown that many midwives feel ill-prepared for the increased integration of genetics into clinical practice and often only limited genetics education provision is in place. With the application of genetics to midwifery practice increasing, it is important that midwives develop their knowledge and skills to meet this growing clinical role. This study was therefore developed to ascertain the attitudes and educational needs of midwives by exploring genetic issues likely to arise in clinical practice and the confidence individuals felt in dealing with them.Design. A survey questionnaire with open and closed questions.Methods. All midwives working in four National Health Service trusts (n = 817) were invited to self-complete the validated questionnaire anonymously. Data were collected on demographics and preferred continued professional development options for future educational programme development. Likert scales were used to rate the importance of genetic activities and midwives' confidence to perform them based on the genetic activities which were first listed and then presented embedded within specific clinical scenarios.Results. The response rate was 51% (n = 416). The majority of midwives felt that genetics was important but many did not feel confident about integrating it into their clinical practice. Across all scenarios > 60% of midwives were not confident on any risk identification or risk communication activities. The majority of midwives were receptive to genetics education particularly if delivered from a clinical rather than a psychosocial or scientific perspective.Conclusion. This study demonstrates the need for midwives' pre- and postregistration education to include clinically relevant genetics. The evidence presented here can inform the design, development and delivery of future educational initiatives.What this study adds. This study was the first to identify the educational needs of midwives related to integrating genetics into midwifery clinical practice. It provides evidence of key topics to be included in educational programmes: referring to specialist genetics services, genetic testing, risk and communicating genetic information. It shows the type and format of course preferred by clinically based midwives: interactive workshops and lectures using clinical patient-based case examples will attract midwives to participate and will be better received by their managers.Relevance to clinical practice. Midwives view genetics as important in their clinical practice. However, they have little confidence in their ability to integrate genetic activities in their current clinical practice. Midwives are receptive to additional genetics education and training. Antenatal and community-based midwives could be targeted initially. Organizers must be responsive to work patterns in planning education sessions, and encourage and support champions from previous courses and specialist areas to promote genetics education in maternity units.

During the last 25 years there has been a gradual move towards more open communication with children and young people about the realities of chronic health conditions affecting themselves or members of their families. With genetic conditions, parents face not only telling children about the management of the condition, but also about potential future risks. Most parents want to discuss these issues with their children but have found little available help or support. The internet is one source of advice parents may consult. For this aurvey the internet was searched for web pages advising parents about talking to children about genetic or other chronic health conditions. Fourteen pages from 12 websites were found relating to genetic conditions and a further 30 to other chronic health conditions. These were analysed for content and for issues relating to reliability. The sites confirmed to parents that it was important to talk to their children and gave advice about how they should act when doing so, but little practical advice about how they could approach this task. Children’s feelings and emotions were rarely mentioned and there was very little advice about discussing genetics and heredity. Pages relating to other chronic illnesses gave a little more advice on what to tell children and a few more practical suggestions for how to do this. When compared to a meta-synthesis of previous research relating to family communication about genetic conditions, there was some mismatch between the information parents need and that provided by websites. Nurses must be aware of parents’ need for help in communicating with children about genetic conditions, and that if they search the internet the content and quality of advice they find will be variable and there will potentially be important areas that are not covered.

Background. Rapid advances in genetics following the sequencing of the human genome will progressively reach all aspects of health care. Developments in genetics will increasingly having a significant influence on the work of nurses, midwives and health visitors. Therefore, these practitioners need to understand the impact that genetics will have for their patients and should be able to incorporate this new knowledge into their clinical practice to ensure that they continue to offer holistic care and influence the strategic development of health care. An earlier survey of higher education institutions in the United Kingdom (UK) offering preregistration courses for nurses, midwives and health visitors showed that the teaching of genetics was very limited in most curricula. Aim. To assess the provision of education on genetics for postregistration and postgraduate nurses, midwives and health visitors in the UK, as these practitioners are mostly likely to influence current health care provision and initiate changes in clinical practice. Method. A total of 38 higher education institutions from 11 regions were surveyed via telephone or e-mail, using a semi-structured interview schedule. Results. The findings showed that the inclusion of genetics in the curriculum was highly variable. A small number of institutions (n = 3) offered courses with whole modules on genetics, whereas 19 of the 38 responding did not include any genetics in their curriculum at a postregistration level. Conclusion. The findings suggest that there is lack of recognition of the impact genetics is likely to have on health care. It is, therefore, recommended that the profile and relevance of genetics to nurses, midwives and health visitors should be promoted by the major organizations responsible for developing, commissioning and providing health care education.

Prostate cancer is the leading cancer for men worldwide, with increasing incidence in Sub-Saharan Africa. In the UK and USA, Black men of different backgrounds are at higher risk of developing prostate cancer but continue to have little involvement with related health services. Lack of knowledge and culture have been implicated as reasons for this but culture in Black ethnic groups has not been very well explored. This scoping study asks how ethnicity, as represented by culture, interacts with Black men’s beliefs around prostate cancer. The objective is to understand the meaning of prostate cancer and the role of culture in Black men’s beliefs about the disease. Using a symbolic interactionist approach to explore meaning-making in Black men around culture and prostate cancer reveals varied ways in which culture affects interaction with health services. A thematic analysis of 25 studies included in the final scoping study shows that there are three main themes under which cultural issues can be examined: personal, societal and structural. The study reveals that knowledge is contextual and that personal and societal beliefs and structural factors intertwine to create a system that can preclude Black men from taking part in prostate cancer-related health practices, and discusses some of the ways in which these can be addressed.

e21560 Background:Internationally the mortality rate for neutropenic sepsis (NS) is 2-21% (in patients who develop it). Within the United Kingdom NS causes around 700 deaths annually. Clinicians are concerned about patient delayed reporting of NS which may increase healthcare costs, mortality and chemotherapy delays, which can affect prognosis. Methods: Constructivist grounded theory was used to gain insight into the reasons for patient delays. Observations (n = 13 hours) of women with breast cancer being provided with information about NS by oncology doctors and nurses and 31 in-depth interviews. Analysis (and development of categories and supporting properties) commenced with the earliest data gathered and a rich theoretical picture was built through comparing perspectives, pursuing areas of inquiry and recruiting participants who became of interest. Data were collected until saturation. A coding framework was applied to examine and explain connections between categories. Results: 35 participants. 13 women with breast cancer (median age, 56 years, 8 Caucasian, 9 adjuvant, 4 metastatic), 9 carers (partners, family or friends, 50% lived with patients) and 13 clinicians (4 oncologists, 7 chemotherapy nurses, 2 emergency department clinicians, most doctors were male, most nurses were female). The majority of patients and carers were highly educated ( > degree level). All patients except 1, delayed reporting NS symptoms (2.5 hours - 8 days), sometimes repeatedly. The final grounded theory suggests patient delays are due to an interplay of behaviours between clinicians, patients and carers where they subconsciously collude to underplay the seriousness and possibility of NS occurring.Moderators of delay included metastatic disease, bereavement, fatalism, religious beliefs and quality of relationships with clinicians. Conclusions: Relationships with clinicians directly impacted on delayed patient reporting of NS.Findings have implications for health risk communication, development of holistic service models and the design of future research to develop interventions, to promote earlier recognition and treatment for this important chemotherapy complication.

Objective in the UK, midwives are facing a policy-drive to include men in antenatal care, and men will soon receive paternity leave to enable their involvement. As a result, more men will be able to attend screening, support women and participate in decision-making. We therefore conducted a timely exploration of what being involved means for men and what they want from antenatal screening and midwives. Design and setting in-depth, semi-structured interviews with 12 men were carried out, mostly by telephone. Data were analysed using grounded theory. Findings we constructed three themes and showed that (1) in normal pregnancies, men knew little about screening, and were happy for midwives to take control during appointments, (2) in complicated pregnancies, men wanted to be more actively involved but some perceived that they faced suspicions of being coercive if voicing opinions, and (3) over time, men became more adept at communicating with midwives, but some disengaged from screening because of poor communication with midwives and/or a lack of faith in the benefits of screening. Conclusion findings build on other studies to highlight the multiplicity of roles men play during screening. For men and women to reap the benefits of men׳s involvement in antenatal screening, good communication is required between midwives and couples. Communication training could help to improve care delivery and the relationships between men, women and midwives.

Background: Recruiting the desired number of research participants is frequently problematic with resulting financial and clinical implications. The views of individuals responsible for participant recruitment have not been previously reviewed. This systematic review and thematic meta-synthesis explores researchers ’ and clinicians ’ experiences and perceptions of recruiting participants to clinical research, with the aim of informing improved recruitment systems and strategies. Methods: Studies published between January 1995 and May 2013 were identified from: Ovid MEDLINE, Ovid EMBASE, Ovid PSYCHINFO, ASSIA, British Nursing Index, Scopus, Web of Science, CINAHL and PubMed. Included studies were original peer reviewed research, with qualitative methodologies and an aim of exploring the views of clinicians and/or researchers on recruitment to clinical research. Studies discussing the recruitment of patients unable to give informed consent were excluded. The findings sections of the relevant studies were free coded to identify key concepts which were grouped into hierarchical themes. The quality of the identified studies was assessed and the relative contribution of each paper was checked to ensure individual studies did not dominate in any theme. Results: Eighteen relevant papers were identified which examined the views of researchers and clinicians in 10 clinical specialties. Five main themes emerged: building a research community, securing resources, the nature of research, professional identities and recruitment strategies. The views of researchers and clinicians were similar, although the role of ‘ researcher ’ was inconsistently defined. Conclusions: The general experience of recruiting participants to clinical research was one of competition and compromise. Competition arose over funding, staffing and participants, and between clinical and research responsibilities. Compromise was needed to create study designs that were acceptable to patients, clinicians and researchers. Forging relationships between clinical and research teams featured extensively, however the involvement of patients and the public within the research community was rarely discussed. J Clin Med Res. 2014;6(3):162-172 doi: http://dx.doi.o rg/10.14740/jo cmr1619w

To explore men's experiences of their partner's altered physique and body image as a result of mastectomy and subsequent reconstructive surgeries.A systematic review of qualitative and mixed-methods studies.Ovid, EBSCOhost, Web of Science, SCOPUS and ASSIA ProQuest databases were searched using 1) truncations of breast cancer, hereditary breast cancer and BRCA 2) words relating to partner relationships; spouse, husband, partner, men and couple 3) breast cancer surgeries; mastectomy, prophylactic mastectomy and breast reconstruction and 4) body image.Methodological rigour was quality assessed.A total of 756 citations were retrieved. Seventeen articles remained following the removal of duplicates, papers unrelated to breast cancer, male breast cancer, papers that excluded men's experiences of their partner's breast cancer and altered body image. Thematic analysis was applied and produced five themes: experiences of the altered body, communication, impact on relationship, information giving and recommendations.Men indicated that perceptions of their partner's altered physique and body image, following mastectomy, was secondary to their health. Some men were distressed by their partner's bodily alterations leading to highly complex and emotive coping mechanisms. Men found talking to their partner about physique and body image challenging. Closed communication, however, often led to conflict and poor psychological well-being in both partners. To help prepare for the changes to their partner's body, men desired tailored information. Effective information giving contributes to effective coping strategies helping men to better support their partner affected or at risk from breast cancer, leading to enhanced psychological and emotional well-being in couples.

Objectives: Communicating genetic risk is a distressing process for families affected by inherited genetic conditions. This systematic review identifies and explores the challenges faced by parents and their (non)affected or at risk children caused by the (non)disclosure of genetic risk information. Design: Qualitative meta-synthesis and thematic analysis. Data sources: Ovid databases; Ovid 'in progress', British Nursing Index, Embase, Medline and Psychinfo were combined with searches of EBSCOhost databases; CINAHL and ERIC and Web of science and ZETOC databases using truncations of communication, chronic illness and disease and words relating to family with specific genetic conditions; Cystic Fibrosis, Duchenne Muscular Dystrophy, Familial Adenomatous Polyposis, Hereditary Non-polyposis Colorectal Cancer, Huntington's Disease, Neurofibromatosis and Sickle Cell Anaemia. This was augmented with free Internet and hand searches and an exploration of the bibliographies of all included papers. Review method: All papers were quality assessed to ascertain their research quality and methodological rigour. Results: A total of 2033 citations were retrieved. Following the removal of duplicates, irrelevant articles and the application of an inclusion criterion, 12 articles remained. A further three papers were omitted due to poor quality leaving nine papers which focussed on the disclosure of genetic information between parent and child (Conclusion: Disclosure of genetic risk information within families is a highly complex and affective process often resulting in delayed disclosure. This can lead to increased family tensions generated by misunderstanding, blame and secrecy. Early, age appropriate disclosure can better prepare children for future considerations such as care planning and reproductive decision-making. It also contributes to effective coping strategies that promote enhanced adaptation and emotional well being. Early disclosure also reduces parental anxieties concerning disclosure from an unwitting source. Research shows that children and young people want their parents to engage in open and honest discussions about the genetic condition. Therefore to help facilitate effective family communication health professionals should provide family centred care and better emotional and informational support.

The launch of the Peri-Rule, a new and simple tool used for the assessment of second degree perineal trauma took place in July 2004. The conference delegates heard from keynote speakers about the effects perineal trauma can have on women's health and the need for improved assessment of perineal tears and treatment interventions. The development of the Peri-Rule and its uses for improving clinical practice with audit, education and research was described. It offers significant benefits for women's postpartum health and could reduce the costs of litigation by improving the assessment of perineal trauma. The development of the Peri-Rule offers an excellent opportunity to undertake a randomized controlled trial comparing suturing versus non-suturing of second degree tears, where consideration for the size of tear can be included in the outcomes.

Objectives First to develop a consensus on what is known about men's experiences and involvement in antenatal screening, second to understand whether screening is an appropriate way to engage uninvolved men in pregnancy and third to identify areas requiring further research. Design A systematic review was conducted to extract relevant qualitative primary research studies, which were subsequently synthesised. Data sources International qualitative research papers, in English or with English translations, were identified using twenty-three electronic databases, such as CINAHL, MEDLINE, EMBASE, PsycInfo, ASSIA and British Nursing Index. Articles that explored men's views and opinions of antenatal screening and prenatal diagnosis were included. Review methods Eighteen relevant research studies that met the inclusion criteria were identified. Each one was appraised as suitable for inclusion using a published appraisal tool. Results Three themes were constructed, which were (1) men's emotional conflicts, (2) men's focus on information and (3) men's influence on decision-making. Men felt a responsibility towards their unborn child to be involved in screening. Despite this, their input was often limited to supporting their partners, and there was no clearly defined, additional role for them as expectant fathers. Thus screening is not likely to be sufficient as an opportunity to encourage men who are uninvolved in pregnancy to become more involved. Nonetheless, engaging men who were involved in the pregnancy and who attended screening appointments was beneficial in encouraging the responsibility they felt towards their unborn child, and in allowing them to support their partners. Conclusions Healthcare professionals need to engage those men who show willingness to be involved. Nevertheless trying to engage reluctant men in screening, where there is no clearly defined role for them might create further distance between them and the pregnancy. Alternative ways to engage such men in pregnancy are thus required.

Counselees from different countries may differ in demographic and medical characteristics and this could affect their pre-counselling cognitions and psychosocial variables. Research outcomes may therefore not be easily transferable between countries. To examine this, a cross-national comparison of UK (West Midlands: WM) and Dutch (Middle Netherlands: MN) counselees in breast cancer genetic counselling was conducted. Two hundred thirty-eight WM and 156 MN proband counselees were compared on demographics, breast cancer history and referral pathways. Multivariate logistic regression analyses were performed to check whether national differences in knowledge of breast cancer and heredity, risk perception, worry and information needs persisted when corrected for the background characteristics. About half of the Dutch compared to 8% of UK counselees were affected by breast cancer. More UK than Dutch counselees were at high risk from hereditary breast cancer. UK counselees had higher risk perceptions and more knowledge about breast cancer prevalence, but these differences lost significance when corrected for counselees' risk levels and other background characteristics. Counselees from the UK might report higher levels of worry than Dutch counselees and this could not be explained by their background characteristics. Comparisons of findings between the UK and the Netherlands show that the UK seems to have a higher percentage of high-risk referrals and these counselees seem to have higher risk perceptions. Irrespective of their actual risk level, UK counselees might be more worried. Comparing findings between the different countries raises questions about how transferable research findings are from one culture to another.