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Background At least 10 % of patients seen in primary care are said to have a condition in which genetics has an influence. However, patients at risk of genetic disease may not be recognised, while those who seek advice may not be referred or managed appropriately. Primary care practitioners lack knowledge of genetics and genetic testing relevant for daily practice and feel inadequate to deliver genetic services. The aim of this systematic review was to evaluate genetics educational interventions in the context of primary care. Methods Following the process for systematic reviews developed by the Centre for Reviews and Dissemination, we conducted a search of five relevant electronic databases. Primary research papers were eligible for inclusion if they included data on outcomes of interventions regarding genetics education for primary care practitioners. The results from each paper were coded and grouped under themes. Results Eleven studies were included in the review. The five major themes identified inductively (post hoc) were: prior experience, changes in confidence, changes in knowledge, changes in practice, satisfaction and feedback. In five of the studies, knowledge of practitioners was improved following the educational programmes, but this tended to be in specific topic areas, while practitioner confidence improved in six studies. However, there was little apparent change to practice. Conclusions There are insufficient studies of relevant quality to inform educational interventions in genetics for primary care practitioners. Educational initiatives should be assessed using changes in practice, as well as in confidence and knowledge, to determine if they are effective in causing significant changes in practice in genetic risk assessment and appropriate management of patients. Electronic supplementary material The online version of this article (doi:10.1186/s12875-016-0483-2) contains supplementary material, which is available to authorized users.

Aims and objectives The aim of the study was to determine the rate of use of prenatal screening tests and the factors affecting the decision to have a prenatal screening test in pregnant women in Turkey. Background Prenatal genetic screening as an optional service is commonly used to determine a level of risk for genetic conditions in the foetus. Design A quantitative cross-sectional survey. Methods Pregnant women (n = 274) who sought prenatal care from one hospital in Turkey were recruited and asked to complete questionnaires that were developed by the researchers. Descriptive and inferential statistics were used to analyse the data. Results Almost half (44·2) % of the women were primiparas, and the majority (97·8%) were in the third trimester of pregnancy. Only 36·1% of the women reported that they had prenatal screening by either the double test or triple test. Women had a low level of knowledge regarding prenatal screening: the mean knowledge score was 3·43 ± 3·21 of a possible score of 10. Having consanguineous marriage, a history of spontaneous abortion, a child with genetic disorder, multiparity or a longer marriage duration were positively correlated with accepting a prenatal screening test. Conclusions This study has provided baseline data on the uptake and reasons for accepting or declining a prenatal screening in a cohort of Turkish women. There is evidence to suggest that more education is needed to improve knowledge and provide comprehensive nursing care to promote informed consent in this context. Relevance to clinical practice Perinatal nurses are ideally situated to inform pregnant women about prenatal screening tests to improve access to healthcare services and to ensure informed decisions are made by pregnant women and their partners.

Presymptomatic and predictive genetic testing should involve a considered choice, which is particularly true when testing is undertaken in early adulthood. Young adults are at a key life stage as they may be developing a career, forming partnerships and potentially becoming parents: presymptomatic testing may affect many facets of their future lives. The aim of this integrative systematic review was to assess factors that influence young adults' or adolescents' choices to have a presymptomatic genetic test and the emotional impact of those choices. Peer-reviewed papers published between January 1993 and December 2014 were searched using eight databases. Of 3373 studies identified, 29 were reviewed in full text: 11 met the inclusion criteria. Thematic analysis was used to identify five major themes: period befeore testing, experience of genetic counselling, parental involvement in decision-making, impact of test result communication, and living with genetic risk. Many participants grew up with little or no information concerning their genetic risk. The experience of genetic counselling was either reported as an opportunity for discussing problems or associated with feelings of disempowerment. Emotional outcomes of disclosure did not directly correlate with test results: some mutation carriers were relieved to know their status, however, the knowledge they may have passed on the mutation to their children was a common concern. Parents appeared to have exerted pressure on their children during the decision-making process about testing and risk reduction surgery. Health professionals should take into account all these issues to effectively assist young adults in making decisions about presymptomatic genetic testing.

Aim This article is a report of a study of informed consent in people with a learning disability. The aims of the study were to explore the information needs of people with mild-to-moderate learning disabilities with respect to consent for blood tests and to identify ways of facilitating informed consent. Background The recent political agenda for social change in the UK has emphasized the right of people with a learning disability to have more autonomy and make their own decisions. As in other countries, there has also been a shift towards shared decision-making in healthcare practice. Design Qualitative study using an ethnographic approach. Methods An ethnographic approach was used for this qualitative study. Phase 1 involved observation of six participants with a learning disability having a routine blood test in general practice, followed by semi-structured interviews with 14 participants with a learning disability in Phase 2. Data were collected between February 2009–February 2010. Findings The data showed that consent procedures were often inadequate and provision of information to patients prior to a blood test was variable. People with a learning disability expressed clearly their information requirements when having a routine blood test; this included not wanting any information in some cases. Conclusions Healthcare practitioners and people with a learning disability need to be familiar with current consent law in their own country to facilitate valid consent in the healthcare context. This study demonstrated the value of qualitative research in exploring the knowledge and attitudes of people with learning disability.

Incidental findings arise when clinically relevant genetic information about a research participant or patient is identified outside the scope of the original research objective or diagnostic test being performed. These findings can relate to carrier status for a heritable condition, misattributed paternity or increased susceptibility to a medical condition. The decision whether to disclose these findings to the research subject or patient is underpinned by many ethical, moral, and potentially legal considerations. There is an urgent need for definitive guidelines for researchers and healthcare professionals. We performed a systematic review of the relevant literature concerning the disclosure of incidental findings, based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses recommendations, using the prescribed flowchart and checklist. At initial screening, 473 articles were retrieved. The inclusion and exclusion criteria aimed at obtaining data that were relevant and of sufficient quality were applied and a total of four relevant studies were identified, comprising 2,680 individual participants and 1,023 guidance documents. Major themes emerging from the included articles include patient autonomy, patient welfare, harmful secrets, and genetic literacy. The lack of relevant studies emphasizes the urgent need for empirical investigations into the disclosure or non-disclosure of genetic incidental findings, and the provision of guidelines to assist healthcare professionals and researchers. © 2012 Wiley Periodicals, Inc.

The rapid increase in gene-disease discoveries offers real promise of clinical applications for people and families affected by genetic conditions but for which health professionals are not prepared because of lack of training. The availability of clinically relevant education resources is critical to enabling nurses to develop the appropriate genetics-genomics knowledge and skills to provide optimum care for individuals and families. The Internet is a core resource to support teaching and learning in nurse education. Evaluating such resources is important to maximise the education experience, particularly for subjects traditionally perceived by nurses as being difficult. Telling Stories, Understanding Real Life Genetics is a web-based educational resource. It uses real accounts from individuals and professionals to promote understanding of the impact of genetics-genomics on the lives of people and their families. Google Analytics™ Web analytics service provides time series data for analysing web usage to optimise website effectiveness. We present data of visitor activity and behaviour from 123 countries over three years from 2009–2011 and consider how the application of the web analytics informs approaches to enhancing visibility of the website, provides an indicator of engagement with genetics-genomics both nationally and globally, and informs future expansion of the site as a global resource for health professional education. Telling Stories is an accessible, broad-reaching resource that is of global relevance for health professionals, attracting over 33,500 visitors between 2009–2011, with steadily increasing numbers of returning visitors. The United Kingdom, United States, Canada and the Netherlands are the largest site users. Returning visitors spend significantly more time on site and view more pages than new visitors. Most referring sites are education establishments. More needs to be done now to enhance the site’s accessibility for people of other languages and cultures.

In the past, genetic services were delivered to a limited number of families with rare conditions. However, genomics is now being applied to both inherited and common diseases in a range of healthcare settings, and there is a greater need for nurses to understand the basic concepts of genetic health care. The aim of this cross-sectional survey was to explore the understanding and attitudes of Italian nurses toward genetic health care. A questionnaire was completed by 102 nurses and midwives (85% response rate). Of these, 61% believed that genetic counseling was only an informative and advisory process, and 53.9% could not specify to whom the counseling was aimed. When asked to identify nurses’ role in genetic health care, 62% of the respondents believed they had no role, although 28% believed that nurses could provide information, support, and counseling. These findings indicate that nurses have only partial knowledge of the issues surrounding genetic health care. To prepare nurses for the post-genomic era, improved genetic education at the undergraduate and postgraduate levels is required.

The use of electronic genealogical databases facilitates the construction of accurate and extensive pedigrees for potential use in genetic services. Genealogy databases can be linked to specific disease databases, such as cancer registries, in order to increase the accuracy of pedigrees used, and inform the genetic risk assessment. To review the published literature on the use of genealogy databases to construct pedigrees for risk assessment in genetic health service, a systematic literature search was undertaken using 12 combined search terms to identify all relevant published articles. Data sources: EbscoHost, PubMed, Web of Science, Ovid and the “grey literature”, as well as the reference lists of identified studies. Of 1,035 titles identified, two papers described a study on the use of genealogy databases in cancer risk assessment and two were discussion papers. While authors of the four papers described the potential use of genealogy databases in clinical genetic services, such use has not been adequately investigated and further research is required.

‘Personalized medicine’ is inextricably linked with current advances in genomics. Although initial claims about the power of genomic tests have been modified, they have the potential to inform a personalized approach to healthcare. Within the health service, genomic testing is being applied in specific situations to inform therapy; however, more robust studies are needed to identify those tests that can make significant improvements to management and prevention of disease. Despite efforts to educate health professionals, genetic literacy remains unsatisfactory and more efforts are needed to embed genetics in pre- and post-registration professional education, and therefore, maximize benefit for patients. Primary care and public health professionals may be contexts in which genomics can be utilized for both personalized healthcare and promotion of community health.

skirton h., o’connor a. & humphreys a. (2012) Nurses’ competence in genetics: a mixed method systematic review. Journal of Advanced Nursing68(11), 2387–2398. Abstract Aim. To ascertain the extent to which nurses are achieving the core competences in genetics appropriate for nursing practice. Background. 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. Data sources. 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. Design. Systematic review. Review methods. 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. Results. 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. Conclusions. 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 postregistration programmes must be enhanced to include genetic health care.

Objective 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. Methods We used a qualitative approach using semistructured interviews. Thirty-eight women and six of their partners were recruited. Results 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. Conclusion 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. © 2012 John Wiley & Sons, Ltd.

Prenatal fetal sex determination is clinically indicated for women who are at risk of having a child with a serious genetic disorder affecting a particular sex. Ultrasound has been the traditional method used, but early fetal sex determination using non-invasive prenatal diagnosis (NIPD) can now be performed using cell-free fetal DNA in maternal plasma. The study aim was to assess the views and experiences of service users who had used NIPD for fetal sex determination. In this paper, we report on the perceived benefits and disadvantages. A qualitative approach using semi-structured interviews was used. A total of 44 participants (38 women and 6 partners of participating women) were recruited. Participants' views and experiences of NIPD were overwhelmingly positive. Concerning benefits over traditional methods, three themes emerged: (1) technical aspects of technology; (2) timing; and (3) enhanced decision-making. Practical advantages of NIPD included avoiding miscarriage, and there were a number of psychological advantages associated with timing such as perceived control, early re-engagement, normalization of pregnancy and peace of mind. Participants also valued NIPD as it enabled a stepwise approach to decision-making. A number of disadvantages were discussed including concerns about social sexing and increased bonding at a time in pregnancy when miscarriage risk is high. However, participants felt these were fairly minor in comparison with the advantages of NIPD. Until definitive genetic diagnosis using NIPD is available, NIPD for fetal sex determination is perceived as a good interim measure with a number of notable advantages over traditional methods.

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.

williams j.k., skirton h., barnette j.j. & paulsen j.s. (2012) Family carer personal concerns in Huntington disease. Journal of Advanced Nursing68(1), 137–146. Abstract Aim. To examine and compare the personal concerns of family members providing care for people with Huntington disease in the United Kingdom and the United States. Background. Family carers of people with Huntington disease may feel burdened by caregiving responsibilities and concerned about illness risk for relatives. Method. A mailed personal concerns survey was completed by 108 United Kingdom and 119 United States adult family carers of people with Huntington disease in 2006 and 2007. Survey responses included frequency and intensity of concerns, and narrative comments. Data were analysed using descriptive statistics of the products of frequency and intensity of reaction scores to identify a personal concerns index for items with the twelve highest combined scores. Factor analysis identified three factors, which were compared between respondents by factor and items within factors using t tests mean frequency by intensity scores. Narrative comments were thematically analysed. Results. Three main factors were labelled impact of role change, sense of isolation and concerns for children. Within the role change factor, United States family caregivers had significantly higher concerns about family finances and United Kingdom carers expressed significantly greater personal sadness. Both groups expressed concern about isolation from family. Although family carers in both countries expressed concern about their children, those of United States caregivers were significantly higher. Conclusion. Further studies are required to identify benefits of support services that are specific to carer concerns and consistent with national healthcare systems.

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.

Aphasia is an acquired communication impairment that affects a person’s ability to use and understand language. The aim of this study was to explore the narrative types and metaphors expressed by people with aphasia, to enhance insight into this experience. A qualitative narrative approach using videoed semi‐structured interviews was undertaken with 11 people with aphasia. The transcribed data were analysed for underlying narratives and metaphors. Four types of narratives, labelled amelioration, regeneration, acquiescent and discordant, along with 13 conceptual metaphors used by persons with aphasia to convey their stroke experiences were identified. Metaphors specific to aphasia included aphasia as a thief, aphasia as a barrier, aphasia as a gift and aphasia as enlightenment. These findings facilitate understanding of the experience of aphasia and highlight the different narratives that may be used by the individual to make sense of and respond to their aphasia.

Aims and objectives. To compare the accuracy and appropriateness of auscultatory (manual) and oscillometric (automated) devices for measuring blood pressure in clinical settings. Background. 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. Design. Systematic review. Methods. 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. Results. 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. Conclusions. 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. Relevance to clinical practice. 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.

Genetic advances mean patients at risk of genetic conditions can be helped through testing, clinical screening, and preventive treatment, but they must first be identified to benefit. Ensuring quality of genetic care for patients requires genetic expertise in all health services, including primary care. To address an educational shortfall, a series of e-learning resources was developed in six languages to equip primary care professionals with genetic skills relevant for practice. The purpose of the study was to evaluate these resources using Kirkpatrick's framework for educational outcomes.Mixed methods (qualitative and quantitative) were used over four phases of the study.A high level of satisfaction with the resources was reported. Knowledge and skills improved significantly after using the education material. Participants reported changes in confidence and practice behavior, including family history taking, seeking advice from specialists and referring patients. The resources helped users to learn how to explain genetics. Many visited the resources repeatedly and some used them to educate colleagues or students.Gen-Equip modules are effective in improving genetic knowledge, skills, and attitudes for primary care professionals. They provide both continuing professional development and just-in-time learning for a potentially large global audience at a practical level.

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.

To assess pregnant women's knowledge and understanding of first trimester prenatal screening (nuchal translucency, maternal serum free beta-human chorionic gonadotrophin and pregnancy-associated plasma-protein-A), to evaluate the impact of a new information booklet and investigate the effects of education and experiential knowledge of congenital disabilities on the perceived likelihood of accepting prenatal screening.A quasi-experimental quantitative study with a self-completion questionnaire.Five different maternity care clinics in Iceland.Expectant mothers in first trimester of pregnancy (n = 379).Expectant mothers were divided into two groups, an intervention and a control group, both receiving traditional care and information. The intervention group additionally received an information booklet about prenatal screening and diagnosis.Women's knowledge score of prenatal screening. The correlation between education, knowledge score, experiential knowledge of congenital disabilities, and the likelihood of accepting prenatal screening.More than half of the women (57%) believed they received sufficient information to make an informed decision about screening. Knowledge scores were significantly higher for the intervention group (with mean 4.8 compared with 3.7 on a 0-8 scale, p0.0001). Those with higher scores were more likely to accept screening (p0.0001). Women with experiential knowledge of congenital anomalies in their own families were more likely to accept prenatal screening (p = 0.017).Various factors, e.g. experiential knowledge, education and information about prenatal screening affect the likelihood of participation in prenatal screening programs. More information results in better knowledge and higher uptake rate.

Objective childbearing is a significant transition, especially for first-time mothers. The objectives of this study were to explore the maternal transition from womens' perspectives and to identify any unmet needs for support. Design grounded theory was chosen as the most appropriate method of analysis due to its ability to identify social processes in an inductive way. Semi-structured interviews were used to collect data from the participants, and the interview transcripts were analysed using the constant comparative method. Setting communities within one region of the UK. Participants 13 women (aged ⩾16 years) who had delivered their first child six to 15 weeks prior to the interview were recruited to the study. Findings three main themes (control, support and forming a family) all contributed to the core category: ‘changes in the woman's self-concept'. Women felt that they had lost some control over their lives in the early stages of pregnancy and after the birth. The early changes in their self-image and the shift in focus from themselves to the needs of the fetus indicate that the transition may begin at a very early stage in the first trimester. The unfamiliar territory of pregnancy and early motherhood created a need for a mentor or mentors to help guide them through the transition, and to ‘normalise' their feelings and experiences. Finally, the women recognised that the act of childbearing fundamentally transformed them and their partners from individuals or a couple into founding members of a new family. Key conclusions first-time mothers start to undergo a transition at an early stage in their pregnancy. They face difficult periods both early in the pregnancy and after the birth, and have unmet needs for support in those periods, particularly the support of other new mothers. Implications for practice providing more information about early pregnancy before conception may enable women to form more accurate expectations of this period. Facilitating contact between pregnant mothers would help them to establish a more appropriate support network prior to the birth.

Dilated cardiomyopathy is a disorder of the cardiac muscle characterized by dilation and impaired contraction of the left or both ventricles. The disease is defined as familial if there are two or more affected individuals in a family. It is generally inherited in an autosomal dominant pattern, therefore if one parent has the condition there is a 50% probability that each child of that individual will inherit the gene mutation that causes it. However, there is considerable clinical variability of expression, with incomplete penetrance, making prediction of the course of the disease in any individual difficult. First-degree relatives of patients with idiopathic dilated cardiomyopathy should be assessed to ensure early disease is identified and managed. Despite the importance of a family history in identifying those at risk, very few cardiologists discuss genetic information with patients and this is essential to detect early disease at a presymptomatic stage.

This paper is a report of a study conducted to examine the emotional experience of caregiving by family carers of people with Huntington disease and to describe strategies they used to deal with that experience.Huntington disease, commonly diagnosed in young to middle adulthood, is an inherited single gene disorder involving loss of cognitive, motor and neuropsychiatric function. Many family members become caregivers as well as continuing as parents and wage earners. The emotional aspects of caregiving contribute to mental health risks for family members.Focus groups were conducted with 42 adult carers of people with Huntington disease in four United States and two Canadian Huntington disease centers between 2001 and 2005. Data were analyzed through descriptive coding and thematic analysis.All participants reported multiple aspects of emotional distress. Being a carer was described as experiencing disintegration of one's life. Carers attempted to cope by seeking comfort from selected family members, anticipating the time when the care recipient had died and/or using prescription medications. Spousal carers were distressed by the loss of their relationship with their spouse and dealt with this by no longer regarding the person as an intimate partner. Carers were concerned about the disease risk for children in their families and hoped for a cure.Emotional distress can compromise the well-being of family carers, who attempt to maintain multiple roles. Nurses should monitor carer mental health, identify sources of emotional distress and support effective strategies used by carers to mediate distress.

Title. Educational gaming in the health sciences: systematic review. Aim. This paper is a report of a review to investigate the use of games to support classroom learning in the health sciences. Background. One aim of education in the health sciences is to enable learners to develop professional competence. Students have a range of learning styles and innovative teaching strategies assist in creating a dynamic learning environment. New attitudes towards experiential learning methods have contributed to the expansion of gaming as a strategy. Data sources. A search for studies published between January 1980 and June 2008 was undertaken, using appropriate search terms. The databases searched were: British Education Index, British Nursing Index, The Cochrane Library, CINAHLPlus, Medline, PubMed, ERIC, PsychInfo and Australian Education Index. Methods. All publications and theses identified through the search were assessed for relevance. Sixteen papers reporting empirical studies or reviews that involved comparison of gaming with didactic methods were included. Results. The limited research available indicates that, while both traditional didactic methods and gaming have been successful in increasing student knowledge, neither method is clearly more helpful to students. The use of games generally enhances student enjoyment and may improve long-term retention of information. Conclusion. While the use of games can be viewed as a viable teaching strategy, care should be exercised in the use of specific games that have not been assessed objectively. Further research on the use of gaming is needed to enable educators to gaming techniques appropriately for the benefit of students and, ultimately, patients.

Title. Informed consent to healthcare interventions in people with learning disabilities – an integrative review. Aim. This paper is a report of an integrative review of informed consent to healthcare interventions in people with learning disabilities. Background. Consent to treatment lies at the heart of the relationship between patient and healthcare professional. In order for people with learning disabilities to have equity of access to health care, they need to be able to give informed consent to health interventions – or be assessed as incompetent to give consent. Data sources. The British Nursing Index (BNI), CINAHL, MEDLINE, Social Care Online, ERIC and ASSIA and PsycINFO databases were searched using the search terms: Consent or informed choice or capacity or consent to treat* or consent to examin* AND Learning disab* or intellectual* disab* or mental* retard* or learning difficult* or mental* handicap*. The search was limited to papers published in English from January 1990 to March 2007. Review methods. An integrative review was conducted and the data analysed thematically. Results. Twenty-two studies were reviewed. The main themes identified were: life experience, interaction between healthcare professionals and participants, ability to consent, and psychometric variables. A consensus seemed to emerge that capacity to consent is greater in people with higher cognitive ability and verbal skills, but that the attitudes and behaviour of healthcare professionals was also a crucial factor. Conclusion. The findings support use of the functional approach to assessing mental capacity for the purpose of obtaining informed consent. Future research into informed consent in people with learning disabilities is needed using real life situations rather than hypothetical vignettes.

Background prenatal screening for fetal abnormality is being offered routinely in many countries. The need for informed consent demands that the nature of screening is understood by prospective parents, but the opportunities for providing information early in pregnancy before decision-making may be limited. Objective to assess the knowledge about, and attitudes to, prenatal screening in adults of reproductive age in two countries. Design two groups of adults were surveyed using a specifically designed tool to assess knowledge about fetal abnormalities and potential screening tests, attitudes to screening and termination of pregnancy, and information required by parents before making decisions. Setting and participants 90 participants were surveyed in Japan, 72% of whom were pregnant or had a partner who was pregnant; 93 participants were surveyed in the UK, none of whom were pregnant. All respondents were aged between 18 and 45 years. Measurements demographic data were collected and analysed. Frequencies were calculated for each questionnaire response. A series of t -tests and χ 2 tests were used to assess differences between the two groups. Free-text data were analysed using content analysis. Findings overall knowledge of prenatal tests and the conditions for which screening is offered was low in both groups. Significant differences exist between the perception of the conditions for which screening or testing can be offered and the types of conditions that can actually be detected prenatally. Most respondents in both countries would consider termination of pregnancy for fetal abnormality. The information most frequently cited by respondents as important when deciding about testing were the chances of damage to the health of fetus, mother, or both. Key conclusions women and men of reproductive age in the groups studied are not well-prepared to make decisions about screening or testing in pregnancy. Implications for practice improvements in preconceptual education on prenatal screening and testing may be required to ensure prospective parents can make informed decisions in early pregnancy.

Aim. The aim of this research was to identify the needs and coping strategies of individuals with Huntington disease and their family members/carers and to ascertain the extent to which they were supported by the type of specialised service provided in this unit. Background. The duration of the illness may be up to 30 years and there are far reaching implications for the affected person, family members and carers. Services for families need to provide expert psychological and practical support, whilst remaining planned and flexible. The aim of this research was to identify needs and coping strategies of individuals with Huntington disease and their carers and ascertain the extent to which they were supported by a specialised community service. Methods. Five focus groups and three individual interviews were used to gather data from affected individuals, family, carers and staff of the unit (n = 33). A semi-structured discussion guide was used in every case. Data were analysed using an inductive coding technique. Results. Three main themes emerged; (i) Transitions and the journey, (ii) Challenges in finding and providing support and (iii) The role of the unit in providing supportive care. While the service was seen as supportive, the need for flexibility was emphasised to facilitate the transition from unaffected to affected status. Affected individuals felt it was important to be known as the person they had been, despite the changes due to the disease. Conclusions. Provision of service in a dedicated unit is an appropriate way to support affected patients and their carers. Enhancing understanding of the disease and allowing the individual to make choices can assist coping with this challenging disease. Relevance to clinical practice. It is helpful to allow patients control over timing and frequency of contact with professionals. Improving understanding of the condition in the public and health professionals may enable patients to access a greater range of social activities.

With the advent of national newborn screening for cystic fibrosis in the UK, the communication of information within families after a diagnosis is made is important. As cystic fibrosis is a recessive genetic condition, even distant relatives may be carriers and therefore potentially at risk of having an affected child. Eight semi-structured interviews were carried out with mothers of children who were diagnosed with cystic fibrosis at around the time of birth. Thematic analysis was undertaken on interview transcripts. The interview data suggest open communication in these families with respect to first-degree relatives. Although disclosure was more selective with distant relatives, there was evidence that information was filtered to them through other family members. The main reasons for disclosure by mothers appeared to be the need for support and to allow relatives the option of carrier testing. Barriers to disclosure included lack of emotional and geographical closeness to relatives and the desire to protect relatives from unwelcome information. Health professionals may be able to assist the disclosure process by actively discussing disclosure with parents. It may also be helpful to revisit the issue of disclosure with parents after they have had some time to adjust to the diagnosis of cystic fibrosis in their child.

Aim This study explored young people's perceptions of their involvement in healthcare decisions affecting their management of care. Method A phenomenological approach was used to allow in-depth examination of the young people's personal accounts of their experiences. Data were obtained from 10 hospitalised young people between the ages of 12-16 years from both genders and from different medical and surgical specialities using focused interviews. Transcribing, reading and listening to the data enabled data analysis through reflection and analysis. Findings Three themes were identified: level of involvement in decision-making; psychological impact of involvement in decision making; and communication. Conclusion Professional practice in the care of young people should include effective communication, a policy of inclusion and active assessment of competence.

This is a protocol for a Cochrane Review (Intervention). The objectives are as follows: Primary objective The primary objective is to assess the effectiveness of interventions to improve patient identification, access to and utilisation of genetic and genomic counselling services when compared to: i) No intervention; ii) Usual or current practice; and iii) Other active intervention. Secondary objective The secondary objective is to explore the resource use and costs associated with interventions aimed at improving patient identification, access to and utilisation of genetic and genomic counselling services from studies meeting the eligibility criteria. We will report on factors that may explain variation in the effectiveness of interventions aimed at improving patient identification, access to and utilisation of genetic and genomic counselling services from studies meeting the eligibility criteria. Another secondary objective is to explore how interventions which target improved patient identification, access to and utilisation of genetic and genomic counselling services affect the subsequent appropriate use of health services for the prevention or early detection of disease. It is also possible that the genetic counselling interaction itself will contribute to the possible use of preventative services.

While pedigree drawing software is often utilised in genetic services, the use of genealogical databases in genetic counselling is unusual. This is mainly because of the unavailability of such databases in most countries. Electronically generated pedigrees used for cancer genetic counselling in Iceland create pedigrees that automatically incorporate information from a large, comprehensive genealogy database and nation-wide cancer registry. The aim of this descriptive qualitative study was to explore counsellees' experiences of genetic services, including family history taking, using these electronically generated pedigrees. Four online focus groups with 19 participants were formed, using an asynchronous posting method. Participants were encouraged to discuss their responses to questions posted on the website by the researcher. The main themes arising were motivation, information and trust, impact of testing and emotional responses. Most of the participants expressed trust in the method of using electronically generated pedigrees, although some voiced worries about information safety. Many experienced worry and anxiety while waiting for results of genetic testing, but limited survival guilt was noted. Family communication was either unchanged or improved following genetic counselling. The use of electronically generated pedigrees was well received by participants, and they trusted the information obtained via the databases. Age did not seem to influence responses. These results may be indicative of the particular culture in Iceland, where genealogical information is well known and freely shared. Further studies are needed to determine whether use of similar approaches to genealogical information gathering may be acceptable elsewhere.

Aims and objectives The aim of this discussion paper is to enable nurses to understand how deoxyribonucleic acid analysis can be predictive for some diseases and not predictive for others. This will facilitate nurses to interpret genomic test results and explain them to patients. Background Advances in technology mean that genetic testing is now commonly performed by sequencing the majority of an individual's genome or exome. This results in a huge amount of data, some of which can be used to predict or diagnose disease. Design This is a discussion paper. Methods This paper emerged from multiple discussions between the three authors over many months, culminating in a writing workshop to prepare this text. Results The results of DNA analysis can be used to diagnose or predict rare diseases that are caused by a mutation in a single gene. However, while there are a number of genetic factors that contribute to common diseases, the ability to predict whether an individual will develop that condition is limited by the overall heritability of the condition. Environmental factors (such as lifestyle) are likely to be more useful in predicting common disease than genomic testing. Genomic tests may be of use to inform management of diseases in specific situations. Conclusions Genomic testing will be of use in diagnosing disorders due to single gene mutations, but the use of genomic testing to predict the chance of a patient being affected in the future by a common disease is unlikely to be a realistic option within a health service setting. Relevance to clinical practice Nurses will increasingly be involved in the use of genomic tests in mainstream patient care. However, they need to understand and be able to explain to patients the practical applications of and limitations of such tests.

Genetic testing is becoming more commonplace in general and specialist health care and should always be accompanied by genetic counselling, according to Swedish law. Genetic counsellors are members of the multi-disciplinary team providing genetic counselling. This study examined the role and added value of genetic counsellors in Sweden, using a cross-sectional on-line survey. The findings showed that the genetic counsellors added value in the clinical setting by acting as the 'spider-in-the-web' regarding case management, having a more holistic, ethical and psychological perspective, being able to offer continuous support and build a relationship with the patient, and being more accessible than medical geneticists. The main difference between a genetic counsellor and medical geneticist was that the doctor had the main medical responsibility. Thus genetic counsellors in Sweden contribute substantially to the care of patients in the clinical genetic setting.

The need for appropriately trained genetic counsellors to support genetic healthcare is now acknowledged. However, while programmes for education of genetic counsellors exist in a number of countries, these do not conform to any specific international standards. As genetic techniques, educational standards and professional standards have been evolved, and with increasing mobility of genetic counsellors, it is of great importance to have some comparison of education and training between different countries. This systematic review was conducted to determine the components of educational programmes for genetic counsellors worldwide that have been published in peer-reviewed literature. Databases were searched for studies published in English from 2000 to 2014 related to the topic. We identified 406 potential papers, of these, 11 studies met the inclusion criteria. The findings indicate that, in most cases, the theoretical components of genetic counsellor programmes conform to the recommendations and requirements of relevant professional bodies. However, clinical preparation of genetic counsellors in real-life professional practice settings seems to be less well addressed as this is essential to ensure genetic counsellors are able to provide safe patient care after graduation. Further work to gain agreement internationally on genetic counsellor education is needed.

The development of non-invasive prenatal testing has increased accessibility of fetal testing. Companies are now advertising prenatal testing for aneuploidy via the Internet.The aim of this systematic review of websites advertising non-invasive prenatal testing for aneuploidy was to explore the nature of the information being provided to potential users.We systematically searched two Internet search engines for relevant websites using the following terms: 'prenatal test', 'antenatal test', 'non-invasive test', 'noninvasive test', 'cell-free fetal DNA', 'cffDNA', 'Down syndrome test' or 'trisomy test'. We examined the first 200 websites identified through each search. Relevant web-based text was examined, and key topics were identified, tabulated and counted. To analyse the text further, we used thematic analysis.Forty websites were identified. Whilst a number of sites provided balanced, accurate information, in the majority supporting evidence was not provided to underpin the information and there was inadequate information on the need for an invasive test to definitely diagnose aneuploidy.The information provided on many websites does not comply with professional recommendations. Guidelines are needed to ensure that companies offering prenatal testing via the Internet provide accurate and comprehensible information.

Genetic counseling refers to the totality of activities that (1) establish the diagnosis of genetic disease, (2) assess the occurrence risk, (3) communicate to the patient and family the chance of recurrence, (4) provide full and unbiased information within a caring relationship regarding many problems raised by the disease and its natural history, including the potential medical, economic, psychological, and social burdens, and (5) provide information regarding the reproductive options. The understanding and goals of genetic counseling as they evolved over the last century exemplify the substantial shift in understanding, determining, diagnosing, and handling of hereditary/genetic risks. At present, nondirective concepts have found broad, though not universal, acceptance.

Non-invasive prenatal testing (NIPT) is a technique first developed in the early 1990’s that enables testing of a fetus for genetic conditions, based on a sample of maternal blood [1]. Small fragments of extracellular DNA from both mother and fetus are present in maternal plasma, and by excluding fragments of maternal origin, the fetus can be tested for sex, aneuploidy and some specific genetic conditions [2]. The main benefits of this type of fetal testing over amniocentesis or chorionic villus sampling are the removal of any risk of miscarriage due to invasive testing and obtaining results in the first trimester [2].

New genomic technologies, whilst allowing comprehensive and cost-effective access to disease-causing mutations, also increase the possibility of incidental findings unrelated to the original research question. These findings may have health, reproductive or familial implications for the research participant concerned. There are diverse opinions regarding the obligations of researchers and appropriate management strategies regarding how or whether to return this information to research participants. As the empirical data on which these arguments are based is still fairly limited, we undertook a qualitative study, using a thematic analysis approach, to explore the topic further. We interviewed members of UK NHS research ethics committees to ascertain their experiences regarding genetic incidental findings, as well as their opinions regarding future challenges and management. The interviews were transcribed, coded and analysed for common themes. Three themes emerged; facilitating participant consent, supporting the validity of consent, and risks and rights. Ethics committee members were aware of the issues raised by genetic incidental findings despite limited practical experience in the projects they have assessed. There was no consensus as to how information should be presented to potential participants during recruitment for research involving genome-wide technologies, or whether blanket or checklist-based consent was most useful. Participants also discussed the difficulties in balancing the rights and obligations of research participants, their families, researchers and clinicians when considering the return of incidental findings. Some supported overruling patient consent in order to return clinically actionable incidental findings. In the absence of national guidance on these issues, the lack of consensus evident in this study could potentially lead to disparity between research ethics committees in the way genetic research studies are appraised. A wider discussion on the suitability of the current informed consent model for complex genomic research may also be required.

This paper reports the development of specialist genetic nursing in the UK and Japan. Between 1970 and 1990, significant technical advances in genetic testing occurred. These advances offered many families affected by genetic conditions more choices in diagnostic, predictive, and prenatal testing. It was recognized that genetic testing could significantly alter the life of the family and that supportive health services were required to accompany such testing. Nurses began to offer specialist services in this setting, but considerable professional development was required to ensure practitioners were competent. In the UK, the profession grew slowly over several decades. Concern to establish minimum standards of practice in this new professional setting culminated in the establishment of a set of competencies and a formal registration process. By comparison, in Japan, developments in genetic nursing have occurred over a shorter period of time, but minimum standards of competence already have been agreed upon.

Aim. This paper is a report of a project to introduce and evaluate methods for using information and communication technologies to involve academic staff, students, and patients in a common synchronous e-learning environment. Background. Although there is no strong evidence for this, there may be benefits in ‘efficiency’ and for patients and students from shared e-learning. Asynchronous e-learning methods in nursing education are well-established, but synchronous methods have received less attention. However, if feasible, because they are more akin to face-to-face contact, they may be more suitable for patients and may provide a quicker development path for e-learning. Method. We evaluated three synchronous technologies: (1) non-commercial satellite interactive television (TV); (2) Internet videoconferencing; and (3) webcasting, through feasibility studies of ‘TV-style’ panel discussions on health topics and seminars with interaction with viewers by e-mail, inter-site research meetings with face-to-face interaction, user surveys and literature reviews. Results. Interactive satellite TV required the booking of rooms with specialized receiving equipment. This limited accessibility contributed to the high cost per participant. Videoconferencing proved acceptable for cross-site research meetings and is proposed for joint meetings for doctoral students with overseas centres but has the same access issues as interactive satellite TV. Webcasting is accessible to most users with Internet access and provides a feasible means of delivery of synchronous interactive material. Reported live webcasts have had audiences of thousands. Presentation formats: panel discussions with mixed patient–professional membership and mixed patient–professional audiences were acceptable to participants but engaging academic staff and students was problematic. This may be overcome with webcasting but there may still be barriers such as timetabling and students’ concerns about learning in the same ‘live’ environment as patients. Conclusions. Limitations in accessibility have been demonstrated for both satellite broadcasts and videoconferencing. Webcasting proved the most acceptable way of supporting a common synchronous environment. Having identified a feasible synchronous method we can now investigate hypothesized benefits for staff, students, and patients of combined e-health e-learning.

Purpose: Analyze ethics, public policy, and education issues that arise in the United States (US) and the United Kingdom (UK) when genomic information acquired as a result of genetic testing is introduced into healthcare services. Organizing Construct: Priorities in the Ethical, Legal, and Social Issues Research Program include privacy, integration of genetic services into clinical health care, and educational preparation of the nursing workforce. These constructs are used to examine health policies in the US and UK, and professional interactions of individuals and families with healthcare providers. Findings: Individual, family, and societal goals may conflict with current healthcare practices and policies when genetic testing is done. Current health policies do not fully address these concerns. Unresolved issues include protection of privacy of individuals while considering genetic information needs of family members, determination of appropriate monitoring of genetic tests, addressing genetic healthcare discrepancies, and assuring appropriate nursing workforce preparation. Conclusions: Introduction of genetic testing into health care requires that providers are knowledgeable regarding ethical, policy, and practice issues in order to minimize risk for harm, protect the rights of individuals and families, and consider societal context in the management of genetic test results. Understanding of these issues is a component of genetic nursing competency that must be addressed at all levels of nursing education.

This article, the last in this series, focuses on the ways a nurse can acquire relevant genetic information for effective practice and how this information can be communicated successfully.

Purpose:To review international efforts to incorporate genetics content into nursing education curricula. Organizing Framework:A discussion of the progress in nursing education programs in selected countries to educate students for genomics-based health care. Information is based on review of the literature and curriculum change efforts by the authors. Conclusions:The lack of agreed-upon minimum competencies impedes efforts to educate nurses for genomics-based health care. Nationally and internationally recognized documents are useful for collaborative efforts to establish minimal competencies in knowledge, skills, and attitudes for nurses with basic and advanced education. Curriculum change that incorporates minimum competencies will require nursing faculty to improve their knowledge base in genomics-based health care. Partnerships among nurses in different countries are needed for successful genomics education programs for faculty.

Rapid growth in demand and altered professional roles have produced changes in the delivery of genetic services over the past decade, but these have not been rigorously evaluated because of the paucity of appropriate audit tools. The aim of this study was to use clients' accounts and factor analysis to develop a robust assessment and audit tool. Qualitative data abstracted from several published studies were used to generate a number of statements related to outcomes of genetic services. A total of 57 statements were incorporated into a questionnaire. The questionnaire was mailed to clients of the Wales genetic service (n = 133) who had completed their episode of care. Respondents were asked to rank each statement on a seven-point Likert type scale. Responses were subjected to factor analysis. A total of 97 anonymized responses were received (73% response rate). Six main factors were found to contribute to the outcome of the service from the client's perspective. These were labeled (i) enhanced understanding, (ii) positive psychological change, (iii) respect for autonomy, (iv) adaptation, (v) disequilibirium, and (vi) value of contact. The audit tool has now been refined for use in evaluating genetic services. Questions are included to investigate the six outcome areas shown to be relevant from the client's perspective. Data from the next phase of the study will be analyzed to validate the tool for use in both clinical audit and research contexts.

Across the UK, there is a network of NHS genetic services to which families may be referred for a number of reasons, for example because of a family history of cancer or to seek a cause for their child’s developmental delay. In the past, advice might have been based solely on a clinical diagnosis, but new technologies often now enable a definitive diagnosis of a genetic condition to be made, based on genetic or chromosome testing. This information may have a significant psychosocial impact on family members. Grief and feelings of guilt are frequently described by parents. The use of genetic testing for diagnosis is increasing, but it is the exchange of information between families and clinical practitioners that forms the crux of the work of the genetic services. Genetic nurses and counsellors believe that an important component of their role is to provide psychological support to families as they adjust to that information and sometimes have to make difficult decisions (Skirton et al 1997). This case study has been written as a co-operative project between one family and the genetic nurse who had clinical contact with that family. The story starts 25 years before the referral ...

Genetic counselling for presymptomatic testing is complex, bringing both ethical and practical questions. There are protocols for counselling but a scarcity of literature regarding quality assessment of such counselling practice. Generic quality assessment tools for genetic services are not specific to presymptomatic testing (PST). Therefore, the aim of this study was to identify aspects of effective counselling practice in PST for late-onset neurological disorders. We used the Delphi method to ascertain the views of relevant European experts in genetic counselling practice, ascertained via published literature and nomination by practitioners. Ethical approval was obtained. Questionnaires were sent electronically to a list of 45 experts, (Medical Doctors, Geneticists, Genetic Counsellors and Genetic Nurses), who each contributed to one to three rounds. In the first round, we provided a list of relevant indicators of quality of practice from a literature review. Experts were requested to evaluate topics in four domains: (a) professional standards; (b) service standards; (c) the consultant's perspective; and (d) protocol standards. We then removed items receiving less than 65% approval and added new issues suggested by experts. The second round was performed for the refinement of issues and the last round was aimed at achieving final consensus on high-standard indicators of quality, for inclusion in the assessment tool. The most relevant indicators were related to (1) consultant-centred practice and (2) advanced counselling and interpersonal skills of professionals. Defined high-standard indicators can be used for the development of a new tool for quality assessment of PST counselling practice.

As part of an ethnographic study, the impact of foreign postings on spouses who accompany military personnel was explored. Individual interviews and focus groups with 34 British military spouses based in one location in southern Europe were conducted. Key findings suggested that reaction to a foreign posting was a reflection of personal attitudes, prior experiences, support, ability to adjust to change and strength of relationship with the serving spouse and community. For many the experience was positive due to the increased opportunity for family time, for others this helped to compensate for the difficulties experienced. Some military spouses experienced significant distress on the posting, particularly if the family was not well-supported. The potential implications of military spouses not adapting to foreign postings have significant implications for healthcare practice. Provision of more appropriate support resources before and during the posting would facilitate the transition for the military spouse and their family.

Summary Background Nurses now require a basic knowledge of genetics to provide patient care in a range of settings. Objectives To determine Turkish registered nurses' current knowledge and educational needs in relation to genetics. Design A descriptive, cross-sectional study. Settings Turkish registered nurses working in a university hospital in Turkey were recruited. Participants All registered nurses were invited to participate and 175 completed the study. Methods The survey instrument, basic knowledge of health genetics, confidence in knowledge and the nurses' need for genetics education were used to collect data. Results The majority (81.1%, n =142) of participants indicated that genetics was not taught during their degree program, although 53.1% to 96% of respondents felt confident in defining different genetic concepts. The average genetics knowledge score was 6.89±1.99 of a possible 11 (range 0–11). The majority (70.3%) expressed a strong wish to attend a continuing nursing education program in genetics. Conclusions The study shows that although Turkish nurses are not sufficiently knowledgeable to apply genetics in practice, they are willing to have more education to support their care of patients. Nurses need to have more education related to genetics in accordance with advances in human genetics to optimize health care.