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The number of pregnant women of advanced maternal age has increased worldwide. Women in this group have an increased chance of fetal abnormality. To explore Japanese women's experiences regarding maternal age-specific risks and prenatal testing, we conducted a descriptive qualitative study. Semi-structured interviews were conducted with 16 women aged 35 years or over who had given birth within the previous three months to a healthy, term infant. Thematic analysis of transcribed interview data was performed and three major themes were identified: inadequate understanding of genetic risks; insufficiently informed choice regarding prenatal testing; and need for more information from health professionals. Some participants were not aware of maternal age-specific risks to the fetus. Many took their cues from health professionals and did not raise the topic themselves, but would have considered prenatal testing if made aware of the risks. Nurses, midwives and other health professionals need to adequately inform pregnant women about the genetic risks to the fetus and offer testing at an appropriate stage early in the pregnancy.

Prenatal screening tests can help to estimate the possibility of a pregnant woman having a baby with trisomy 21 (Down syndrome). As these tests are optional, it is essential that women are provided with appropriate verbal and written information to enable them to make an informed choice. In this study, we assessed the content and quality of Down syndrome screening information leaflets used by health professionals to provide information to pregnant women in the UK (26 leaflets) and Thailand (11 leaflets). We collected leaflets from health institutions and the Internet, and compared the topics covered in each one against recommendations for patient information on this topic. We also assessed the quality of each leaflet using the DISCERN Genetics tool. While the quality-rating score of the UK leaflets was significantly higher than the Thai leaflets, none of the leaflets included all the recommended topics; some contained erroneous material. In both countries, the quality of information can be improved to provide accurate information to women and their partners, which is essential to ensure prospective parents can make informed choices during pregnancy.

Baackground Preimplantation genetic diagnosis was developed as an alternative to prenatal diagnosis for couples with a family history of genetic disease. After in vitro fertilization, the embryos can be analysed to ensure that only healthy embryos are transferred to the uterus. Past studies have suggested that couples who wish to avoid having a child with an inherited genetic condition look favourably on preimplantation genetic diagnosis as it prevents the need for termination of pregnancy following prenatal diagnosis of an affected fetus. However, it is important to understand the experiences of couples who have used or consider using this technique. Methods To ascertain the current evidence base on this topic, we conducted a mixed methods systematic review. Four databases were searched for relevant peer-reviewed papers published between 2000 and 2013. Of 453 papers, nine satisfied the inclusion criteria and were assessed for quality. Results of nine papers were analysed and synthesised using a narrative approach. Findings Three main themes emerged: (1) motivating factors; (2) emotional labour; (3) choices and uncertainty. The review has identified an emotional and difficult journey for couples pursuing preimplantation genetic diagnosis. While use of the technique gives hope to families who wish to prevent transmission of a genetic disease this is not without hard decision-making and periods of uncertainty. Lack of information was perceived as a barrier to access this reproductive option. Implications for practice Recommendations include: training and education in genetics for midwives who are the first point of contact for pregnant women; clinics to use a decision-making tool to emphasise the uncertainty involved in PGD and improved communication and psychological support to couples.

For over four decades, it has been possible to offer prenatal diagnostic testing for fetal abnormalities. Prenatal testing is now available for a wide range of monogenic disorders as well as chromosomal abnormalities and should be provided within the ethical framework of informed consent and autonomous choice. However, there are no published guidelines for health professionals from varied disciplines who offer prenatal diagnosis (PND) in a range of possible settings including departments of maternity, obstetrics and clinical genetics. We used an Expert Group technique to develop a set of guidelines for provision of prenatal diagnostic services. Thirteen European health professionals, all experts in PND, participated in a workshop to develop the guidelines, which were then subjected to a wide consultation process. The objective of PND was defined as providing prenatal diagnostic testing services (for genetic conditions) that enable families to make informed choices consistent with their individual needs and values and which support them in dealing with the outcome of such testing. General principles, logistical considerations, clinical care and counselling topics are all described and are equally applicable to invasive and non-invasive testing. These guidelines provide a framework for ethical clinical care; however, they are flexible enough to enable practitioners to adapt them to their particular setting. Ideally, an individualised approach to each family is required to ensure autonomous choice and informed consent regarding prenatal diagnostic testing within the local ethical and legal framework.

Background. Direct-to-consumer (DTC) genetic tests are available online, but there is lit tle practical guidance for health professionals and consumers concerning their use. Work to produce such guidance was initially informed by three systematic reviews assessing the evidence on views and experiences of users and health professionals and policies of professional and bioethics organizations. The evidence suggested that consumers’ motivations include general curiosity, improving their general health, ascertaining the risk of a particular condition or planning for future children. However, health professionals and bioethics organizations expressed concerns about potential harms resulting from these tests. Using this evidence, we constructed a list of topics to be included in proposed guidelines. Methods. Using an exper t group technique, we aimed to develop guidance for (i) potential consumers and (ii) health professionals approached by patients considering or having undertaken such tests. We considered it important to involve a wide range of participants with relevant experience. Accordingly, researchers and clinicians based in four countries were invited to a 2-day workshop in August 2012. Following an iterative process, we decided to produce clinically relevant and pragmatic guidance in the form of a decision support tool for use in primary care. Results. By utilizing both the relevant literature and the experience of the exper t group, we identified seven key underlying reasons that might prompt individuals to consider DTC testing. We considered primary care physicians as the most likely health professionals from whom individuals would seek advice. Conclusions. Based on the outcomes of the workshop, we developed a decision suppor t tool encompassing varied clinical scenarios. Health professionals and patients are guided through a pathway that includes relevant actions and information on the appropriateness of the test. This tool will be freely accessible to health professionals and patients online.

We write regarding the need for genetic counselling research across Europe. At risk relatives of the 30 million Europeans affected by genetic conditions may be neither recognised nor managed appropriately by health professionals.1 This contravenes the EU’s aim to create safe, efficient, patient-centred and sustainable health-care systems.2 For service development, a firm evidence base is needed. Areas where evidence is lacking include service provision, service quality and genetic counselling process.

Huntington's disease (HD) is a progressive neurodegenerative disorder affecting approximately 5–10 per 100 000 people in the UK (Harper, 1992). This dominantly inherited genetic condition causes movement disturbance (especially chorea), depression and dementia. The complex physical, mental, psychological and social problems caused by HD can result in particular difficulties in care. The course of the disease may span 15–20 years from diagnosis to death, necessitating long-term nursing care. The NHS and Community Care Act 1990 has made statutory provision for patients to be cared for at home if they so wish, placing a greater onus of care on the primary healthcare team. A survey of 25 patients in Somerset who had been diagnosed with HD was recently undertaken to ascertain the health and social care needs of patients and their carers. Of a possible 300 care needs in 12 categories (e.g. housing, dietary advice, carer support), 73 unmet needs were identified in this group. Using the survey as a basis, this article describes the steps taken in Somerset to ensure that the future needs of this group of patients are fulfilled. This model may be appropriate for the care of patients with other complex long-term diseases.

This is the sixth article in a series exploring genetics and genomics health care. The focus of this article is how to apply knowledge and understanding of the utility and limitations of genetic and genomic information and testing to underpin care and support for individuals and families before, during and after decision making. This is essential to ensure that nurses can confidently provide genetics and genomics health care.

This study provides an understanding of the experiences and perceptions of phlebotomy in people with infection who have venous damage related to injecting drug use with the aim of improving their care. Narrative interviews were conducted with 10 attendees of a phlebotomy service within an acute Trust in the south-west of England. The participants had hepatitis C infection and poor venous access due to current or former drug use. Interview audiotapes were analyzed, and the themes - conflict, emotional responses, the patient as expert, and offering solutions - were identified. In the context of this study, we discuss the difficulties associated with phlebotomy, which might explain why individuals with hepatitis C infection and venous damage disengage from health services and are less likely to undertake antiviral treatment. This research adds to the literature on phlebotomy for vulnerable groups, and recommends hepatitis C virus clinics within drug agencies, the need to review training and policy, and the development of "phlebotomy passports" to enable continuity of care between services.

Little research has examined the impact of being an accompanying spouse on British military foreign postings. The aim of this qualitative study was to investigate the experiences of 13 military spouses from 11 different overseas locations. Data were collected via an online forum and thematic content analysis was conducted. Key findings revealed that, regardless of the location, reactions to overseas posting varied considerably and were related to the military spouse's personality and personal circumstances, as well as their relationship with family, husband and their support networks. Spouses experienced a loss of control over their lives that was in some cases psychologically distressing. The findings corroborate and extend the findings from a previous study that was limited to one location, further highlighting the need for pre-established support resources from the military and healthcare professionals to be readily accessible for all military spouses. Importantly, such support provision may also facilitate the military spouse in regaining some control over their everyday life, enhancing their well-being and the experience for the family.

Aim To evaluate the social networking site Twitter™ as a vehicle for recruitment in online health research and to examine how the Twitter community would share information: the focus of our study was the antenatal experience of mothers of advanced maternal age. Background One result of growth in worldwide Internet and mobile phone usage is the increased ability to source health information online and to use social media sites including Facebook and Twitter. Although social media have been used in previous health research, there is a lack of literature on the use of Twitter in health research. Design A cross-sectional survey. Method We report a novel recruitment method via a social networking site between May and August 2012. Through a Twitter account, we tweeted and requested other Twitter users to retweet our invitation to be involved in the study. Tweets contained a unique URL directing participants to an online survey hosted on the Survey Monkey™ website. Findings Over 11 weeks, 749 original tweets were posted by the researcher. A total of 529 mothers accessed the survey as a result of 359 researcher tweets and subsequent retweets that were seen by Twitter users. The survey was fully completed by 299 (56·5%) participants. Conclusion Twitter is a cost-effective means of recruitment, enabling engagement with potentially difficult-to-reach populations, providing participants with transparency, anonymity and a more accessible method by which to participate in health research.

Non-invasive prenatal testing has been in clinical use for a decade; however, there is evidence that this technology will be more widely applied within the next few years. Guidance is therefore required to ensure that the procedure is offered in a way that is evidence based and ethically and clinically acceptable. We conducted a systematic review of the current relevant literature to ascertain the factors that should be considered when offering non-invasive prenatal testing in a clinical setting. We undertook a systematic search of relevant databases, journals and reference lists, and from an initial list of 298 potential papers, identified 11 that were directly relevant to the study. Original data were extracted and presented in a table, and the content of all papers was analysed and presented in narrative form. Four main themes emerged: perceived attributes of the test, regulation and ethical issues, non-invasive prenatal testing in practice and economic considerations. However, there was a basic difference in the approach of actual or potential service users, who were very positive about the benefits of the technology, compared with other research participants, who were concerned with the potential moral and ethical outcomes of using this testing method. Recommendations for the appropriate use of non-invasive prenatal testing are made.

For over four decades, it has been possible to offer prenatal diagnostic testing for fetal abnormalities. Prenatal testing is now available for a wide range of monogenic disorders as well as chromosomal abnormalities and should be provided within the ethical framework of informed consent and autonomous choice. However, there are no published guidelines for health professionals from varied disciplines who offer prenatal diagnosis (PND) in a range of possible settings including departments of maternity, obstetrics and clinical genetics. We used an Expert Group technique to develop a set of guidelines for provision of prenatal diagnostic services. Thirteen European health professionals, all experts in PND, participated in a workshop to develop the guidelines, which were then subjected to a wide consultation process. The objective of PND was defined as providing prenatal diagnostic testing services (for genetic conditions) that enable families to make informed choices consistent with their individual needs and values and which support them in dealing with the outcome of such testing. General principles, logistical considerations, clinical care and counselling topics are all described and are equally applicable to invasive and non-invasive testing. These guidelines provide a framework for ethical clinical care; however, they are flexible enough to enable practitioners to adapt them to their particular setting. Ideally, an individualised approach to each family is required to ensure autonomous choice and informed consent regarding prenatal diagnostic testing within the local ethical and legal framework.

Patients with nonmalignant respiratory diseases have limited access to palliative care services and health professionals do not adequately address discussions about end-of-life care preferences.The aim of this systematic literature review was to highlight key components and challenges for patients and health professionals discussing end-of-life care in nonmalignant respiratory disease.A mixed methods systematic review was conducted. Included studies were assessed for quality and data were synthesized thematically, while original data were presented in tabular form.PubMed, CINAHL, BNI, ASSIA, PsycINFO, Science Direct, and Web of Science were searched (1999-2010) for studies on end-of-life discussions. Additional studies were identified by hand searching key journals and reference lists of included articles.Fourteen studies were identified. Three themes involving components and challenges in end-of-life discussions were identified: the discussion, the health professional/patient relationship, and patient perceptions.End-of-life discussions should be initiated by health professionals, who must be aware of patient expectations regarding palliative care and end-of-life care planning. Efforts must be made to develop relationships with patients with terminal illness and allow sufficient time to discuss the end of life during clinical encounters. Future research should address palliative care uptake in nonmalignant disease and implications for health education should be addressed.

Aim To report a study of Italian nurses' understanding of genetics. The objectives were to explore nurses' basic knowledge of genetics, their perceptions of the relevance of genetics and their opinions about the role of the genetic nurse. Background As the knowledge of the genetic basis for disease has developed, pressure to give genetic healthcare services for a larger number of individuals has increased. Specialist genetic nurses currently work in many countries; however, there are very few specialist genetic nurses in Italy and the preparedness of Italian nurses to give care for people with or at risk for genetic conditions is unclear. Design A cross-sectional survey. Methods The survey was administered over 3 months during 2011. Registered Nurses aged 21–65 years were recruited via the website of the Italian nurse registration body, social network sites, hand-distributed flyers and email. Three hundred and eight-five (90%) nurses completed the survey. Data were analysed using descriptive statistics, Kruskal-Wallis tests for distribution and Spearman's Rho analysis of correlations. Results The majority of respondents correctly answered at least four of five genetics knowledge questions. There were no statistically significant difference between knowledge scores when analysed according to age, but scores were positively correlated with higher academic qualifications and previous genetics education. A minority of respondents believed genetics was highly relevant to the nursing role. Conclusion It is essential to ensure that educational provision for nurses includes not only the genetic concepts underpinning health and disease, but also how these are applied to nursing care.

The aim of this study was to explore the views of parents and health professionals regarding informed decision making for antenatal screening for Down syndrome. This qualitative study was based on thematic analysis and conducted in England, where screening for Down syndrome is universally offered to all pregnant women. Four focus groups were held with pregnant women and/or their partners (n = 22), and another four groups were held with health professionals who offer antenatal screening (n = 22). Data were analyzed through coding of the transcribed focus group discussions and extraction of main themes. Extracted themes were: information overload, gaps in information, challenges in providing information and involvement of both parents in the decision. Parents and professionals believed that burdening parents with untimely information on a wide range of topics in the first trimester detracted from decision making about screening. Many parents also reported they were not sufficiently informed and wanted individualized discussion with a health professional. To ensure parents make informed decisions, information on screening should be provided at the appropriate time, with opportunity for personal discussion with a knowledgeable health professional.

Advances in genetics have meant that the genetic services are now accessed by increasing numbers of patients. One way of dealing with the pressure on services without jeopardising patient care is the inclusion of nonmedical genetic counsellors and genetic nurses in the genetic services team. However, a cohesive approach to the profession has been lacking in Europe, and an educational programme and registration system for European practitioners is required. The aim of this study was to ascertain the type of work undertaken by genetic nurses and counsellors in Europe and the context in which they practised. We used a cross-sectional survey design to collect data from 213 practitioners, either genetic nurses or genetic counsellors, from 18 European countries. Respondents completed the survey online, and data were analysed using descriptive statistics and cross-tabulations. The majority were involved in undertaking the initial contact with the patient (89.9 %) and explaining the genetic test to the patient (91.5 %), while 74 % ordered tests and 91.4 % obtained informed consent for such tests. Psychological support before and after genetic testing was provided by 80.2 % of respondents, and 82.1 % reported regularly managing cases autonomously. While the genetic counselling profession is barely established in some countries, counsellors are able to contribute substantially to patient care as part of the multi-disciplinary team. Further efforts to establish the profession at the European level through a registration process will enhance the confidence in this new group of allied health professionals.

To ascertain the extent to which nurses are achieving the core competences in genetics appropriate for nursing practice. There is an increasing focus on genetics in nursing, and relevant core competences have been developed. However, it is unclear whether nurses are achieving these competences. Four databases (CINAHL, Medline, The Allied and Complementary Medicine Database, and British Nursing Index) were searched. Hand searching of relevant reference lists and author names was also conducted.Systematic review. The systematic review was undertaken using methods described by the Centre for Reviews and Dissemination (University of York, 2008). Research studies published in English between January 2000-January 2011 reporting data focussing on nurse competence in genetics were eligible for inclusion. Data were abstracted for inclusion in a table and subjected to thematic analysis: due to diversity of studies, a meta-analysis was not performed. Of 269 papers retrieved, 13 were eligible for inclusion. There were five main themes: knowledge, experience in using skills, ethical practice, perceived relevance, and confidence. Although the majority of participants believed genetics was relevant to their role, their knowledge of genetic concepts was generally poor; however, most studies measured self-reported knowledge rather than assessing actual knowledge. There is little evidence on this topic, but it does appear from the available evidence that nurses are not demonstrating the competences needed to offer holistic health care to people with genetic conditions. Pre- and post-registration programmes must be enhanced to include genetic health care.

Social support has been associated with positive outcomes regarding the mothering experience, and professional interventions have therefore been developed in formal settings to promote this. An ethnographic approach was used to consider the subjective experiences of mothers attending a professionally-facilitated group for parents and children aged 0-4 years, focusing on relationships within the group and their importance within existing social networks. Qualitative data were collected from seven participants using interviews and participant observation. These were analyzed by the constant comparison method into codes, categories, and themes. Three themes emerged: past history, being a mother, and function of the group. To ensure mothers and children benefit from such groups, nurses who participate in developing and leading community interventions for mothers and their children need to be aware of the importance of maternal identity and the factors that can impact the relationships between mothers within group settings.

Background : Given the current emphasis on genetics as a relatively new topic in the field of mainstream healthcare, it is interesting to note that authors suggested that genetics should be included in nursing curricula almost fifty years ago. Genetics has been important to the role of nurses in specific specialities for some years. However, some studies reported that the current training with respect to genetics for nurses did not enable them to acquire the necessary skills for their work. The aims and objectives of this review were to examine the available evidence on genetics knowledge of nurses. Method s: We conducted a systematic review. A search of British Nursing Index, CINAHL, Embase and Medline databases was undertaken for papers published in English between January 2001- September 2011. Six studies satisfied the inclusion criteria. Resukts: In three of the six studies included, the authors analysed the nurses’ perceived knowledge in genetics while in only two studies the authors measured actual knowledge. However, both perceived and actual knowledge of genetics was poor. The amount of genetics education delivered to nurses in these studies was low overall. Conclusions: However, while genetic content is lacking on educational programs the findings confirm that nurses are open to genetics education and that this should be in a form that enables them to apply genetic principles to their everyday healthcare experience. In particular, integration between science and practice is required to enable nurses to fully utilise genetics for the benefit of patients. It is clear that further educational initiatives are required to equip nurses to practice safely and effectively in the post-genomic era.

The aim of this study was to determine service users' experiences of and preferences for service delivery of fetal sex determination by noninvasive prenatal diagnosis (NIPD) using cell-free fetal DNA.We used a qualitative approach using semistructured interviews. Thirty-eight women and six of their partners were recruited.NIPD was viewed as a positive development, which facilitated reproductive autonomy as it expanded reproductive choice. The majority of women heard about NIPD during pregnancy and had received information about the test at a specialist centre. Features of NIPD women considered most important were that it could be performed early in pregnancy and was safe. Participants had a preference for being given information about NIPD and test results by a healthcare professional experienced in genetic testing and with specialist knowledge about their condition, rather than a general practitioner or midwife who may not have the same level of knowledge. Women also valued receiving their test results by telephone.Women were overwhelmingly positive about their experience of NIPD, which suggests that current delivery of this service in England is acceptable to these patients who are at high risk of sex-linked genetic disorders. They particularly valued expert counselling both before and after testing, emphasising that it should be offered through specialist services.

Background Better use of e-health services by patients could improve outcomes and reduce costs but there are concerns about inequalities of access. Previous research in outpatients suggested that anonymous personal email support may help patients with long term conditions to use e-health, but recruiting earlier in their 'journey' may benefit patients more. This pilot study explored the feasibility and cost of recruiting patients for an e-health intervention in one primary care trust. Methods The sample comprised 46 practices with total patient population of 250,000. We approached all practices using various methods, seeking collaboration to recruit patients via methods agreed with each practice. A detailed research diary was kept of time spent recruiting practices and patients. Researcher time was used to estimate costs. Patients who consented to participate were offered email support for their use of the Internet for health. Results Eighteen practices agreed to take part; we recruited 27 patients, most (23/27) from five practices. Practices agreed to recruit patients for an e-health intervention via waiting room leaflets (16), posters (16), practice nurses (15), doctors giving patients leaflets (5), a study website link (7), inclusion in planned mailshots (2), and a special mailshot to patients selected from practice computers (1). After low recruitment response we also recruited directly in five practices through research assistants giving leaflets to patients in waiting rooms. Ten practices recruited no patients. Those practices that were more difficult to recruit were less likely to recruit patients. Leaving leaflets for practice staff to distribute and placing posters in the practice were not effective in recruiting patients. Leaflets handed out by practice nurses and website links were more successful. The practice with lowest costs per patient recruited (£70) used a special mailshot to selected patients. Conclusion Recruitment via general practice was not successful and was therefore expensive. Direct to consumer methods and recruitment of patients in outpatients to offer email support may be more cost effective. If recruitment in general practice is required, contacting practices by letter and email, not following up non-responding practices, and recruiting patients with selected conditions by special mailshot may be the most cost-effective approach.

The majority of people with degenerative neurological conditions are cared for within their own families. Cognitive impairment can be a significant and increasing symptom of these conditions. In this article we report how a team of experienced researchers carried out a meta-ethnography of qualitative research articles focusing on the impact of caring for a loved one with cognitive impairment. We followed the seven-step process outlined by Noblit and Hare. Synthesized findings from 31 papers suggest emotional impact is complex and uncertain and varies from day to day. The benefit of using meta-ethnography is that the results represent a larger sample size and a reinterpretation of multiple studies can hold greater application for practice. The results of this study offer an opportunity for nurses to be aware of both the positive and negative sides of caring and being cared for. This knowledge can be used to discuss with patients and carers how best to prepare for decreasing cognition and still maintain a worthwhile quality of life.

Although the professional title ‘genetic counsellor’ has wide international recognition, formal courses or training programmes in genetic counselling exist in only a small number of countries. In 2002, voluntary registration of genetic counsellors in the UK began under the auspices of the Genetic Counsellor Registration Board. Practitioners are eligible for registration after 2 years of genetic counselling practice and prior attainment of either a nursing or midwifery qualification with relevant Bachelor's degree or a Master's degree in genetic counselling. After a government commitment to increase the genetic counsellor workforce, the national professional organisation for genetic counsellors obtained government funding to expand training capacity for genetic counsellors through a training scheme. The Genetic Counsellor Training Post Scheme was designed to ensure that both appropriately qualified nurses and Master's level genetic counselling graduates were offered the opportunity to undertake a 2-year training period prior to registration. The scheme has proved highly successful. Of 43 trainees appointed, 42 went on to work as genetic counsellors, and 36 have already gained their professional registration. Details of this unique scheme including trainee outcomes and experiences are presented. This type of scheme may be appropriate for the development of the genetic counselling profession in other countries.

Genetic tests have traditionally been offered by health professionals. However, genomic tests have been available direct to the consumer for the last decade, increasingly via the Internet. The aim of this systematic review was to ascertain the evidence concerning use of direct-to-consumer genomic testing from the consumer perspective. Primary research was identified using the search terms 'direct-to-consumer' and 'genomic or genetic' in six bibliographic databases and citation searching of findings. In all, 17 papers were reviewed: 3 qualitative and 14 quantitative. Findings indicate a low level of awareness of direct-to-consumer genomic testing and, because of the hypothetical nature of many studies, little evidence from users of such tests. Although potential users appear to be interested in information about their risks of developing common diseases, concerns were expressed about privacy of genetic risk information and the reliability of genomic tests. Consumers were anxious about the nature of the results. There appeared to be a preference to access genomic tests via a health professional, or to discuss the results and obtain advice from a health professional. Authors of only two papers recruited participants who had used direct-to-consumer tests and samples from the large quantitative studies were not representative of the population. These factors limit the value of the available evidence. However, we conclude that there is public interest in direct-to-consumer genomic tests, and that this is likely to result in an increased workload for a range of health professionals. We also consider that there are educational implications for both consumers and health professionals.

Military spouses frequently cope with separation, but limited research reviewing the impact of an overseas relocation when a spouse accompanies their serving husband/wife has been conducted. A search for studies reviewing the impact of foreign postings on these accompanying spouses was undertaken utilizing 12 databases and other resources. Ultimately, 12 studies were analyzed and four key themes produced: functioning of a military family on an international posting, loss, wellbeing and support. Overall, additional stressors are associated with an overseas posting and experiences are specific to an individual and their circumstances. Further research is required to examine the potential relationship between a spouse's experiences overseas and the impact on their health and wellbeing. This would help to identify possible areas of health care provision and support necessary to maximize a military spouse's experience.

We explored the effects of living with multiple sclerosis (MS) on a primary relationship: that between the person with MS and his or her closest confidant. We anticipated that this would enhance understanding of the meaning of psychosocial support from the perspective of people with MS. Using a phenomenological qualitative approach, we interviewed 33 people with MS and the people they identified as providing psychosocial support to them (their confidants). The results were presented to a range of health-care workers in two focus groups to explore their responses. Two additional focus groups were held with the participants with MS to add depth and clarity to the findings. Three major themes emerged from the interviews: 1) People with MS do not want to be defined by their condition and want to live as normal a life as possible. 2) The confidant helps to maintain this sense of normality. 3) Both the person with MS and the confidant value the relationship and together try to manage the realities of living with MS. The findings indicate the need to raise awareness among MS care professionals about the value of the confidant relationship. Training professionals to discuss emotional issues with clients and increasing collaboration with agencies that provide emotional support will facilitate a more holistic approach to care.

Nurses and midwives need to develop specific knowledge and skills in genetics to enable them to offer appropriate healthcare in a range of non-specialist settings. Studies on the topic indicate that while nurses acknowledged the importance of genetics knowledge to their work, both their knowledge and confidence in using such information are poor. Despite the existence of competence frameworks, it appears that educators have struggled with the need to integrate genetics into nursing and midwifery curricula. An expert workshop on genetics education was held to determine the essential components of genetics knowledge and skills that should be incorporated into the pre-registration nursing curriculum in European countries. In this paper we present the essential topics for nurse and midwife pre-registration education and suggest ways in which genetics might be incorporated into the nursing and midwifery curriculum. © Springer-Verlag 2012.

Collaboration across national borders presents unique challenges and opportunities. A desire to expand your understanding of healthcare issues, and a willingness to share time and intellectual resources generously, contribute to successful collaboration. This is especially useful in small but rapidly developing healthcare specialities, such as genetic nursing. By outlining the benefits of work between two nurses in the UK and the US, this article argues that specialist nurses can benefit from international collaboration where the partners share problem solving and mentoring on common professional issues.

The aim of this study was to develop an evidence-based psychosocial information booklet for parents of children without a specific diagnosis, many of whom are seen through the genetic clinic. A mixed methods approach was adopted involving four phases. The first two phases involving a systematic review and in-depth interviews are summarised briefly but reported in detail elsewhere. Phase 3 comprised: (1) a grey literature search to identify relevant literature and resources from other patient organizations; (2) drafting the booklet using themes identified through the previous phases; (3) piloting the booklet with eight professional and support group stakeholders and (4) piloting the booklet with 14 parents (from Phase 2) to ensure the information reflected their experiences. In Phase 4, we assessed satisfaction with the booklet through a questionnaire completed by 38 parents. The booklet was well accepted. The importance of providing the booklet at the beginning of the parental ‘journey’ was identified. We have developed an evidence-based information booklet to support parents via a rigorous mixed methods approach. This booklet meets a largely unmet psychosocial need and could be used in practice to support parents of children without a diagnosis.

Genetic counselors may have an important role in helping the adolescent make an informed decision with regard to genetic testing and in helping them to adjust to genetic risk information. However, counseling techniques that are used with adults may not be always be suited to the adolescent population. Adolescence is a time of development during which separation from the family and formation of identity is achieved. The process of this development may impact the genetic counseling relationship. Family relationships may have a strong influence on the client's decision to have genetic testing. Additionally, it may be difficult to engage the client as adolescents may not have the ability to think abstractly and consider the short and long term consequences of genetic testing. It is helpful therefore to discuss the counseling process and techniques that may be useful when counseling these clients. This paper presents two case studies that illustrate some of the difficulties that may occur when counseling adolescents for genetic testing. The authors' have reflected on their clinical experience with these clients and this is presented here to add to the growing literature on this subject.

Objective to conduct a systematic review of randomised controlled trials investigating the efficacy of treatments used to manage postnatal psychological morbidity. Design a systematic review was conducted of studies in English published from 1995 to 2011. Studies were included in the review if they were randomised controlled trials and had extractable data on symptoms of psychological morbidity after an intervention designed to manage the disorders in postnatal women. Eight studies met the criteria and were included in the review. Findings the number of participants ranged from 58 to 1745. The interventions included group and individual counselling, debriefing and expressive writing. Authors of only three studies reported fewer symptoms of PTSD after the intervention. Those that appeared to be helpful were counselling and expressive writing. However most authors did not assess pre-existing PTSD. Key conclusions and implications for practice the review revealed that there was no standardised scale used for diagnosis of post-traumatic stress disorder across the studies and no single efficacious treatment. A universal instrument for diagnosis of postnatal post-traumatic stress disorder is required. The intrapartum relationship with midwives appears to be an important contributor to prevention of PTSD and this requires further investigation.

Quality genetic healthcare services should be available throughout Europe. However, due to enhanced diagnostic and genetic testing options, the pressure on genetic counselling services has increased. It has been shown in many countries that appropriately trained genetic counsellors and genetic nurses can offer clinical care for patients seeking information or testing for a wide range of genetic conditions. The European Society of Human Genetics is setting up a system of accreditation for genetic counsellors, to ensure safe practice, however there has been little information about the practice and education of non-medical genetic counsellors in Europe. To collect baseline data, we approached key informants (leaders in national genetics organisations or experienced practitioners) to complete an online survey, reporting on the situation in their own country. Twenty-nine practitioners responded, providing data from 18 countries. The findings indicate huge variation in genetic counsellor numbers, roles, and education across Europe. For example, in UK and The Netherlands, there are more than four counsellors per million population, while in Germany, Hungary, Turkey, and Czech Republic, there are no non-medical counsellors. There are specific educational programmes for genetic counsellors in seven countries, but only France has a specific governing legal framework for genetic counsellors. In the post-genomic era, with added pressure on health systems due to increases in availability and use of genetic testing, these disparities are likely to result in inequalities in service provided to European citizens. This study underpins the need for a coherent European approach to accreditation of genetic counsellors.

The aim of this Grounded Theory study was to assess the motivation and outcomes of carrier testing. Qualitative semi-structured interviews were conducted with participants who had undergone carrier testing for autosomal recessive, X-linked conditions and chromosome translocations. Reproductive empowerment emerged as the central phenomenon. A desire to manage risk was the main motivator for carrier testing, and information gathering the main facilitator. Participants were then able to make informed decisions, regain control over their reproductive risk and pass on information to family members. These findings support a patient-reported outcome measure of empowerment currently being developed for genetic services.

Presymptomatic testing (PST) is available for a range of late-onset disorders. Health practitioners generally follow guidelines regarding appropriate number of counseling sessions, involvement of multidisciplinary teams, topics for pretest discussion, and follow-up sessions; however, more understanding is needed about what helps consultands effectively and the impact of amount and quality of genetic counseling on the psychosocial sequelae of PST for late-onset disorders. We conducted a thematic analysis of three review articles on quality of the genetic counseling process, aiming at (1) exploring current evidence; (2) identifying quality assessment indicators; and (3) making recommendations for genetic counseling practice in late-onset disorders. We undertook a systematic search of 6 relevant databases: 38 articles were identified and 3 fitted our inclusion criteria; after quality appraisal, all were included in the review. The number of sessions, time spent, consultation environment, follow-up, and multidisciplinarity were identified as variables for quality assessment. Research on counseling in the context of genetic testing in familial cancer tends to be related to outcomes and indicators for quality assessment, while research concerning other late-onset diseases is mainly focused on the psychological impact of the test results. The quality and content of the overall process in noncancer late-onset diseases is insufficiently articulated. Despite the fact that PST for Huntington disease and other degenerative conditions has been offered for more than 20 years, good methodological approaches to assess quality of genetic counseling in that context remain elusive. This restricts improvement of the protocols for genetic services and, in general, healthcare for the at-risk population.

Objective this study was part of a larger project commissioned to ascertain whether midwife teachers bring a unique contribution to the preparation of midwives for practice. The aim of this phase was to determine whether the student midwives' educational programme had equipped them to practise competently after entry to the professional register. Design this was a prospective, longitudinal qualitative study, using participant diaries to collect data. Setting data were collected from newly qualified midwives during the initial six months after they commenced their first post as a qualified midwife. Participants the potential participants were all student midwives who were completing their education at one of six Universities (three in England, one in Scotland, one in Wales and one in Northern Ireland). Diary data were submitted by 35 newly qualified midwives; 28 were graduates of the three year programme and seven of the shortened programme. Measurements and findings diary entries were analysed using thematic analysis (Braun and Clarke, 2006), with a focus on identification of key events in the working lives of the newly qualified midwives. A total of 263 key events were identified, under three main themes: (1) impact of the event on confidence, (2) gaps in knowledge or experience and (3) articulated frustration, conflict or distress. Key conclusions essentially, pre-registration education, delivered largely by midwife teachers and supported by clinical mentors, has been shown to equip newly qualified midwives to work effectively as autonomous practitioners caring for mothers and babies. While newly qualified midwives are able to cope with a range of challenging clinical situations in a safe manner, they lack confidence in key areas. Positive reinforcement by supportive colleagues plays a significant role in enabling them to develop as practitioners. Implications for practice whilst acknowledging the importance of normality in childbearing there is a need within the curriculum to enable midwives to recognise and respond to complex care situations by providing theory, simulations and practice experience.

In many countries, specialist palliative day care for patients with life-limiting conditions is provided by specific teams of professionals from a range of relevant disciplines. During 2006 to 2007, the day care services at a hospice in the U.K. were redesigned so that specialist palliative care sessions replaced the existing long-established, traditional day care model. The purpose of this study was to enhance the understanding of those aspects of the service that the users valued most (the "X-factor"). Qualitative data were collected via semistructured interviews with 29 patients and eight carers. These data were subjected to a framework analysis. The users of the service used poignant and powerful words to describe the special qualities that they valued, some phrasing it as the X-factor. The data are presented under three themes: the quality of the staff; the sense of community; and relationships. Of these, the relationships between and within the staff and patient groups held the greatest significance for the patients. Service providers need to recognize that opportunities for the formation of relationships between the patients, staff, and carers are of utmost importance when designing palliative day care services.

Purpose: To provide nurse educators with an updated overview of advances in genetics and genomics in the context of the holistic perspective of nursing. Organizing Framework: Recent advances in genetic and genomic research, testing, therapies, and resources are presented, and the continuing importance of the family history is discussed. Methods: Genomic nurse experts reviewed recent literature and consumer resources to elucidate updates in technology through the lens of the genetically vulnerable patient and family. Findings: Genetic and genomic technologies are becoming routinely used in health care, and nurse educators will be challenged to incorporate these technologies and implications for patients and families into educational programs. Conclusions: New technology and its applications are perennial challenges to nurse educators, but the common focus for nursing, historically and geographically, is health promotion, symptom management, and disease prevention. Education for the next generation of nurses can lay a foundation in genetics and genomics that will enable interpretation and responsible integration of new technologies in a context of individual and family value systems, personal experiences, risk perception, decision consequences, and available resources. Clinical Relevance: Nurses are ideally situated to inform patients about new options in healthcare, and nurse educators are challenged to prepare their students to interpret andresponsibly integrate new genetic-genomic information into practice.

To compare the accuracy and appropriateness of auscultatory (manual) and oscillometric (automated) devices for measuring blood pressure in clinical settings.Accurate measurement of blood pressure is integral to early recognition of deterioration in the condition of a patient. Despite recommendations regarding the use of auscultatory devices in situations where treatment decisions are made dependent on blood readings, the use of automated machines is becoming common practice.Systematic review.A search of the Medline, CINAHLPlus and The Cochrane Library databases was undertaken for papers published in English between January 1997-May 2009. Sixteen studies were identified that fulfilled the inclusion criteria. After quality assessment, all were included in the review. Results are presented in tabular and narrative form.In 10 of the studies reviewed, the authors came to the conclusion that oscillometric devices were less accurate than auscultatory devices. However, in most cases the oscillometric device appears sufficiently accurate for clinical use, the exceptions being use with hypertensive patients, patients with arrhythmia and after trauma. Only two studies assessed the comparative accuracy of aneroid devices, and these indicated that they were more accurate than oscillometric devices, but the differences were not clinically important.There are situations where the substitution of oscillometric for auscultatory devices could have particularly serious repercussions for the patient, such as when the patient is either hypertensive or hypotensive. However, further research is required on the use of aneroid sphygmomanometers as a replacement for mercury devices.Practitioners should be made aware of the need to use auscultatory devices in specific circumstances, such as in management of hypertension, after the patient has experienced trauma or where there is significant potential for deterioration in the patient's condition.

Fair allocation of health-care resources: finding a model that does not disenfranchise users of genetic services. A commentary on Rogowski et al ....

the aim of this study was to explore the parental experiences of raising a child without a diagnosis.qualitative semistructured interviews were conducted with 14 parents recruited through a large Regional Genetics Centre in the United Kingdom. The interview guide was designed to examine issues such as when and why parents started searching for a diagnosis, whether they were still searching, and what psychosocial issues had arisen as a result of not having a diagnosis. Data were analyzed using the Grounded Theory method.the parental experience can be viewed as a journey, which comprises of two distinct components: the inner, emotional experience, and the outer, sociological experience. Issues that comprise the emotional journey include the realization that there is a problem, the experience of testing, reasons for wanting a diagnosis, the emotional impact, and active coping mechanisms. Social issues include the experience with professionals, the various support networks accessed by parents, and issues such as education and housing. The issue of frustration was one that occurred throughout the journey.although some of the experiences cited by parents are common to families raising a child with a diagnosed condition, lack of diagnosis adds a layer of complexity.

In the UK and Japan, midwives provide health services for women with concerns about a genetic condition or who are considering antenatal screening. In both countries, competences related to genetic health care have been devised but there is little evidence about midwifery competence in practice. A systematic literature review was undertaken to determine the extent to which midwives are achieving the genetic competences that are prescribed for their practice. English and Japanese literature from January 1999 to March 2009 was retrieved. Original studies or reviews, in which an aspect of midwifery practice was related to genetic competences, were eligible for inclusion. After a critical appraisal, six UK and five Japanese papers were eligible for inclusion. The findings indicated that midwives are not achieving the competences, nor are they confident about their genetics knowledge. Moreover, women are not being supported to make informed decisions regarding antenatal screening. We have confirmed that little research is being undertaken in both countries regarding competency achievement in practice. Changes to midwifery curricula and further continuing education are required to ensure that midwives are able to provide effective care regarding genetics.

Educational games have been shown to be effective in supporting learning, especially to reinforce knowledge, and students are generally positive about the use of games. The aim of this mixed-methods study that was conducted in the UK was to explore educators' views towards the use of educational games in the health sciences. The data were collected via semistructured interviews with 13 health educators and an online survey that was completed by 97 health educators. Three factors influence the use of classroom games: reflective practice, the impact of games on students, and the impact of logistical factors. Educators assess their own performance and the impact of the games on students when planning their use; however, large classes and the need for preparation time have a negative impact on educators' willingness to use games. Similar constraints might restrict the use of active learning strategies, such as simulation, that are crucial for enabling health professionals to develop competence. These issues require consideration when planning educational methods.

skirton h., williams j.k., barnette j.j. & paulsen j.s. (2010) Huntington disease: families’ experiences of healthcare services. Journal of Advanced Nursing66(3), 500–510. Abstract Aim. This paper is a report of a study of the perceptions of family caregivers regarding the availability and adequacy of health and social care services for their family member with Huntington disease, and to compare findings from these reports in United Kingdom and United States of America samples. Background. Huntington disease is an inherited neurodegenerative condition. Family members often take responsibility for care of relatives with long-term conditions. Studies have demonstrated there are both positive and negative outcomes for carers. Methods. During 2006 and 2007, respondents from the United Kingdom (n = 108) and the United States (n = 119) who were caring for a relative affected with Huntington disease completed the Community Health Care Services Scale to identify areas of concern and the extent to which specific issues bothered carers. Data were analysed using statistical tests including chi-square, t-tests and factor analysis. Results were compared between carers in the two cohorts. Results. Three main factors were derived: ‘community resources’, ‘individualized care’ and ‘knowledge of Huntington disease’. Carers had concerns about the knowledge of healthcare professionals providing care and thought that there were insufficient services to support them and the affected person. There were different challenges for carers when the affected person had a long-term neurodegenerative condition because these carers were also likely to have responsibilities for earning and caring for children. Conclusion. Comprehensive facilities and resources are needed to support families affected by long-term complex conditions. Healthcare professionals need to be aware of the health needs of carers as well as those of the affected person.