Correction: The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages.

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The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages.

PURPOSE: 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. METHODS: Mixed methods (qualitative and quantitative) were used over four phases of the study. RESULTS: 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. CONCLUSION: 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.

mHealth resources for asthma and pregnancy care: Methodological issues and social media recruitment. A discussion paper.

AIMS: A discussion of methodological issues and social media recruitment to a feasibility study to investigate mHealth resources for asthma and pregnancy care. BACKGROUND: Pregnant women with asthma are reported to be poorly supported according to an international research. We sought to establish if a mHealth intervention might be feasible and acceptable to them. DESIGN: A Phase I or modelling study. METHODS: A project team designed an intervention to address UK national guidelines for the management of asthma during pregnancy, using other resources already accessible on the web. This was made available on a project website optimized for mobile phone usage. Links were Tweeted and advertised on Facebook, asking participants to access the project website, which included links to the resources and before- and after-use questionnaires to establish baseline symptom data and participant views of the resources. RESULTS: Despite 55,700 Twitter impressions in a 76-day period over winter 2016-2017, this recruitment strategy garnered 402 engagements but only seven respondents for questionnaire 1 and zero respondents for questionnaire 2. CONCLUSIONS: We could not recruit to this study despite believing that social media recruitment would be effective and we recommend that social media recruitment be used cautiously. Apparently, we did not sufficiently address the theoretical aspects of communications theory and were not clear enough about our key messages. Publication bias may exist about the non-publication of other failed telemedicine studies using social media; this goes largely unreported in some systematic reviews and may influence researchers' decision-making about social media recruitment.

Women's experiences of personalised support for asthma care during pregnancy: A systematic review of the literature.

BACKGROUND: Asthma and pregnancy are both sources of anxiety for women. Although there has been a focus on physiological management of asthma and pregnancy, there has been little research on the impact that personalised support can have on asthma care during pregnancy. This systematic review and narrative synthesis of the literature set out to answer the question 'What are women's experiences of asthma care, its management and education, during pregnancy?' METHODS: This systematic review was carried out using accepted methodology from the York Centre for Reviews and Dissemination. Electronic database searches were conducted using PsycInfo, CINAHL, MedLine, Google Scholar and the Cochrane Library, using the combination search terms: 'Asthma' AND 'Pregnancy' AND 'Care' AND ('Education OR Information OR Experience'). Hand searching of journals and searches for grey literature were also undertaken. Independent quality appraisal by the three authors took place using the criteria detailed by Kmet et al. (Standard Quality Assessment Criteria for Evaluating Primary Research Papers from a Variety of Fields, 2004). RESULTS: All papers scoring in excess of 60% were deemed to be of adequate quality for inclusion, of which there were five: two qualitative designs and three quantitative designs. The designs were too methodologically heterogeneous to permit statistical meta-analysis so narrative review and synthesis was undertaken. Despite an embryonic evidence bases, it is reasonable to conclude that personalised care has beneficial outcomes for pregnant asthmatic women. CONCLUSIONS: Larger randomised controlled trials investigating personalised care are required to build an evidence base which can establish the efficacy of such interventions.

Can I get a retweet please? Health research recruitment and the Twittersphere.

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.

Incidental findings in genetic research and clinical diagnostic tests: a systematic review.

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.

Costs and difficulties of recruiting patients to provide e-health support: pilot study in one primary care trust.

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.

Nurses' competence in genetics: a mixed method systematic review.

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 post-registration programmes must be enhanced to include genetic health care.

Frameworks and quality measures used for debriefing in team-based simulation: a systematic review.

Objectives: The skill of the debriefer is known to be the strongest independent predictor of the quality of simulation encounters yet educators feel underprepared for this role. The aim of this review was to identify frameworks used for debriefing team-based simulations and measures used to assess debriefing quality. Methods: We systematically searched PubMed, CINAHL, MedLine and Embase databases for simulation studies that evaluated a debriefing framework. Two reviewers evaluated study quality and retrieved information regarding study methods, debriefing framework, outcome measures and debriefing quality. Results: A total of 676 papers published between January 2003 and December 2017 were identified using the search protocol. Following screening of abstracts, 37 full-text articles were assessed for eligibility, 26 studies met inclusion criteria for quality appraisal and 18 achieved a sufficiently high-quality score for inclusion in the evidence synthesis. A debriefing framework was used in all studies, mostly tailored to the study. Impact of the debrief was measured using satisfaction surveys (n=11) and/or participant performance (n=18). Three themes emerged from the data synthesis: selection and training of facilitators, debrief model and debrief assessment. There was little commonality across studies in terms of participants, experience of faculty and measures used. Conclusions: A range of debriefing frameworks were used in these studies. Some key aspects of debrief for team-based simulation, such as facilitator training, the inclusion of a reaction phase and the impact of learner characteristics on debrief outcomes, have no or limited evidence and provide opportunities for future research particularly with interprofessional groups.

The Experiences of Specialist Nurses Working Within the Uro-oncology Multidisciplinary Team in the United Kingdom.

PURPOSE: United Kingdom prostate cancer nursing care is provided by a variety of urology and uro-oncology nurses. The experience of working in multidisciplinary teams (MDT) was investigated in a national study. DESIGN: The study consisted of a national survey with descriptive statistics and thematic analysis. METHODS: A secondary analysis of a data subset from a UK whole population survey was undertaken (n = 285) of the specialist nursing workforce and the services they provide. Data were collected on the experience of working in the MDT. RESULTS: Forty-five percent of the respondents felt that they worked in a functional MDT, 12% felt that they worked in a dysfunctional MDT, and 3.5% found the MDT meeting intimidating. Furthermore, 34% of the nurses felt that they could constructively challenge all members of the MDT in meetings. Themes emerging from open-ended questions were lack of interest in nonmedical concerns by other team members, ability to constructively challenge decisions or views within the meeting, and little opportunity for patients' wishes to be expressed. CONCLUSIONS: Despite expertise and experience, nurses had a variable, often negative, experience of the MDT. It is necessary to ensure that all participants can contribute and are heard and valued. More emphasis should be given to patients' nonmedical needs.

Impact of fetal or child loss on parents' perceptions of non-invasive prenatal diagnosis for autosomal recessive conditions.

OBJECTIVE: to explore parents' personal attitudes towards non-invasive prenatal diagnosis in the context of their own experiences caring for a child affected with a genetic condition or after the loss of a fetus, infant, or child due to the condition. METHODS: we collected in-depth data from parents via either focus groups or individual interviews. DESIGN: this was a cross-sectional interpretive study based on grounded theory. SETTING: United Kingdom. PARTICIPANTS: 17 parents (13 women and four men) who were carriers of a serious autosomal recessive condition: spinal muscular atrophy, cystic fibrosis or thalassaemia. All had a child (living or deceased) with the condition. FINDINGS: parents experienced changes in reproductive self-identity due to their experiences of having an affected child: this influenced their views of non-invasive prenatal testing. They began their reproductive journeys 'naively', but described feelings of reproductive vulnerability after the diagnosis of the child and consequent realisation of risks to future children. They viewed non-invasive prenatal testing as a way to reduce threats to unborn children, while allowing prenatal diagnosis. KEY CONCLUSIONS: when parents lose a child they may use emotional guarding, delayed pregnancy disclosure and avoidance of harmful activities to cope in future pregnancies. Parents who want to consider early prenatal testing are less able to utilise these strategies, but non-invasive methods allow them to reduce the risk. IMPLICATIONS FOR PRACTICE: midwives should be sensitive to parents' reproductive vulnerability after genetic diagnosis of a child and ensure they are supported to consider the option of non-invasive prenatal testing if appropriate.

Nursing students' attitudes towards sustainability and health care.

Aim To evaluate attitudes towards embedding sustainability and climate change in nursing curricula among nursing students, some of whom had participated in a sustainability and health skills session, and determine whether the session could improve knowledge of sustainability. Methods Three months after the sustainability session, students who had participated along with a sample of students who had not, completed a Sustainability Attitudes in Nursing Survey questionnaire. This investigated attitudes towards climate change and sustainability in nursing curricula and the costs of clinical and domestic waste disposal. Results Nursing students were positive about sustainability and climate change and its inclusion in the curriculum, irrespective of their participation in the sustainability scenario session. Participants in the sustainability session were more likely to identify correctly the cost of clinical waste disposal in the NHS. Conclusion The sustainability and health skills session has the potential to improve nursing students' knowledge of the cost of clinical waste disposal.

Nonclinical development of a biosimilar: the current landscape.

Preclinical studies have always been a critical component in the development program of a biopharmaceutical. With the advent of biosimilars the traditional preclinical program has changed to a new paradigm that integrates the concept of comparability with existing knowledge of the biopharmaceutical reference drug. Recently, the recommended preclinical program espoused by the European Medicines Agency has been modified to an abbreviated one that now emphasizes in vitro studies in lieu of in vivo for monoclonal antibody biosimilars. Likewise, the US FDA guidance on biosimilars suggests a flexible approach rather than the 28-day comparative toxicology studies that have historically been conducted for worldwide marketing. For now, structure and function studies will continue to be the foundation of the overall analytical assessment of biosimilarity. Traditional, comparative animal safety assessments will have limited value in determination of biosimilarity and in an abbreviated design they may have most value in providing assurance of safety in first-in-human trials when structural attributes are not indistinguishable. Unless this value can be proven, particularly as analytical technology improves in sensitivity, accuracy and precision, the need for these animal safety studies will diminish. Thus, the future lies in the ever evolving and sophisticated analytical studies that will replace the current in vivo studies for biosimilar products.

Patients' experience of a regional allergy service.

BACKGROUND: The principle reason for referral to specialist allergy clinics is to establish diagnoses and provide treatment plans to help patients manage their allergy. If patients do not accept, understand, or remember diagnoses or treatment, clinic visits may have been a waste of time. Few specialist allergy clinics follow up patients after diagnosis. DESIGN AND METHODS: This was a postal survey to assess patients' i) perception of usefulness of specialist allergy clinic visits, ii) understanding of their allergy, iii) confidence in managing it, and iv) response to joining a regional online forum. Data for patients with confirmed allergy who attended the Peninsula Allergy Service (PAS) from 1998-2009 were extracted from consultant letters to general practitioners. Postal questionnaires were sent to 933 patients; 39% (336) responded. RESULTS: Two-thirds (63%) thought their clinic visit useful and resulted in them being more in control of their allergy; 9% thought it useful but they still had problems, 26% thought it had not been much use. One in six (16%, 55) respondents had major differences in their view of their allergy compared to that recorded by PAS. Over half (56%) had had further symptoms since their clinic visit and 120 patients, who were not confident in coping with their allergy, listed aspects of their lives that gave concern. CONCLUSIONS: Specialist clinics need routine feedback from patients if they are to monitor their effectiveness and some better form of follow up for patients is needed to reinforce education and support patients. Public education is important. Significance for public healthAlthough there is a great deal of information available about allergy on the Internet, in the media and via word of mouth from family and friends, unfortunately a fair proportion of this is misleading, inaccurate and even potentially dangerous. The main role of a specialist allergy service is the diagnosis and management of allergies and patient education during the consultation. This audit of patients diagnosed with type 1 allergy showed that a small but significant proportion may not have understood or accepted their diagnosis, others may not be confident in coping with their allergy, and over half had further symptoms after discharge from the clinic. The effectiveness of specialist allergy services will be diminished if there is no longer-term follow-up of patients. Public health education is also important so that patient expectations about the role of allergy services are realistic.

Are health professionals ready for direct-to-consumer genetic and genomic testing?

Direct-to-consumer genetic and genomic tests have been offered for over a decade. With the reduction in the cost of sequencing, the options for consumers will increase, with subsequent pressure on health services to interpret data and integrate the results into healthcare management. However, indications are that health professionals are grossly unprepared to deal with requests for support from those who have undertaken direct-to-consumer genetic or genomic tests. While benefits may be derived from patient-driven investigations, distinction needs to be made between the mostly uncertain clinical utility of susceptibility testing and the potential benefits of a reliably interpreted sequencing result. It is essential that we develop strategies, including enhanced professional education, to cope with the potential impact on the health services, rather than ignoring these developments. There may also be implications for the future of genetic counseling, with potential changes in the current paradigm.

Direct-to-consumer genomic testing from the perspective of the health professional: a systematic review of the literature.

Since the 1990s, there has been a rapid expansion in the number and type of genetic tests available via health professionals; the last 10 years, however, have seen certain types of genetic and genomic tests available direct-to-consumer. The aim of this systematic review was to explore the topic of direct-to-consumer genetic testing from the health professional perspective. Search terms used to identify studies were 'direct-to-consumer', personal genom*, health* professional*, physician* 'genomic, genetic' in five bibliographic databases, together with citation searching. Eight quantitative papers were reviewed. Findings indicate a low level of awareness and experience of direct-to-consumer testing in health professionals. Inconsistent levels of knowledge and understanding were also found with two studies showing significant effects for gender and age. Concerns about clinical utility and lack of counselling were identified. Health professionals specialising in genetics were most likely to express concerns. There was also evidence of perceived increased workload for health professionals post-testing. However, some health professionals rated such tests clinically useful and cited benefits such as the increased opportunity for early screening. Despite limited awareness, knowledge and experience of actual cases, we concluded that the concerns and potential benefits expressed may be warranted. It may be useful to explore the attitudes and experiences of health professionals in more depth using a qualitative approach. Finally, it is essential that health professionals receive sufficient education and guidelines to equip them to help patients presenting with the results of these tests.

A study of the practice of individual genetic counsellors and genetic nurses in Europe.

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.

A Delphi study to determine the European core curriculum for Master programmes in genetic counselling.

Genetic counsellors have been working in some European countries for at least 30 years. Although there are great disparities between the numbers, education, practice and acceptance of these professionals across Europe, it is evident that genetic counsellors and genetic nurses in Europe are working autonomously within teams to deliver patient care. The aim of this study was to use the Delphi research method to develop a core curriculum to guide the educational preparation of these professionals in Europe. The Delphi method enables the researcher to utilise the views and opinions of a group of recognised experts in the field of study; this study consisted of four phases. Phases 1 and 4 consisted of expert workshops, whereas data were collected in phases 2 and 3 (n=35) via online surveys. All participants in the study were considered experts in the field of genetic counselling. The topics considered essential for genetic counsellor training have been organised under the following headings: (1) counselling; (2) psychological issues; (3) medical genetics; (4) human genetics; (5) ethics, law and sociology; (6) professional practice; and (7) education and research. Each topic includes the knowledge, skills and attitudes required to enable genetic counsellors to develop competence. In addition, it was considered by the experts that clinical practice should comprise 50% of the educational programme. The core Master programme curriculum will enable current courses to be assessed and inform the design of future educational programmes for European genetic counsellors.

Genomic medicine: what are the challenges for the National Health Service?

'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.

Direct-to-consumer genomic testing: systematic review of the literature on user perspectives.

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.