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Objective: This qualitative study explored the lived experience of medical doctors in delivering cervical cancer screening in a city in Iraq. Methods: An applied grounded theory approach explored the reported experiences of doctors in the field. A purposive sample of 12 gynaecologists and one general practitioner (GP) working in two main hospitals participated: Semi-structured interviews took place from June to September 2015. Thematic coding of data was peer reviewed and included participant reading of transcripts and translations from Arabic to English. Theory generation involved synthesis of a prior literature review and interview findings. Results: Gynaecologist and GP experiences showed overwhelming gaps in cervical cancer experience and screening. Iraqi women mainly presented for help with late stage cancer. Practical barriers included cultural stigma, low priority for women’s health needs, lack of knowledgeable leadership and perceived shortage of adequately trained staff. Conclusion: There is an urgent need for culturally appropriate cervical cancer prevention policies and strategies in Iraq, focused on evidence-based population-based cervical screening to identify and prevent advanced cervical cancer among women. Regional educational initiatives should be encouraged and primary health care systems supported to undertake screening. Key words: Cervical cancer, Screening, Health system, Barriers, Iraq, Medical education

Individuals with pathogenic variants in genes predisposing to bowel cancer are encouraged to share this information within their families. Close relatives at 50% risk can have access to bowel cancer surveillance. However, many relatives remain unaware of their vulnerability or have insufficient information. We investigated the feasibility and acceptability of using a secure website to support information sharing within families at high risk of bowel cancer. Patients (n = 286) answered an anonymous cross-sectional survey, with 14 participating in telephone interviews. They reported that the diagnosis had a profound effect on them and their family relationships, and consequently desired more support from health professionals. Website content was created in response to the preferences of survey and interview participants. Reactions to the website from 12 volunteers were captured through remote usability testing to guide further refinement of the website. Participants welcomed the opportunity to store and share personal information via the website and wanted more information and help informing their relatives about the diagnosis. Important website topics were: healthy lifestyle, genetic testing, and how to talk to children about the diagnosis. A website providing online access to confidential documents was both feasible and acceptable and could translate into increased uptake of cancer surveillance, resulting in lower morbidity and mortality in these families.

Sickle cell disease is one of the most prevalent genetic diseases in the world. Improvements in care have enabled those affected to experience an improved quality of life, with many affected persons now reaching reproductive age. However, pregnancy poses significant risks for women with the disease and this may affect their reproductive decisions. We conducted an integrative review of the published relevant scientific evidence to ascertain the factors that may influence these women with their reproductive decisions. The electronic databases MEDLINE, CINAHL, and PsychInfo and relevant journals were searched for peer-reviewed papers published between 2005 and 2015. Of the 440 papers identified, six papers satisfied the inclusion criteria and were assessed for quality. Results were analysed and synthesised using a thematic approach to produce a narrative report of the findings. Two main themes were identified: (1) factors influencing reproductive decision-making and (2) experiences during pregnancy. Education regarding disease knowledge and genetic implications may improve participation into screening programmes, facilitate the effective treatment needed to create trust in healthcare services, and promote better self-management. Educating professionals involved in family planning will facilitate women with this condition to make informed decisions regarding pregnancy. However, further research is required to explore the understanding of the risks involved with sickle cell disease, the best methods to educate people with sickle cell disease, and the influence that partners and families may have on women’s reproductive decisions. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s12687-018-0386-0) contains supplementary material, which is available to authorized users.

Background: Predictive genetic testing is important for risk stratification in inherited cardiac conditions, yet may cause psychological distress. The aim of this study was to determine the healthcare needs of young adults undergoing predictive testing for inherited cardiomyopathies. Method: In this qualitative study, 11 young adults (aged 16–25 years) were interviewed; data was analysed inductively using thematic analysis. Results: Interviewees had a reasonable understanding of inheritance but there was often confusion between cardiac imaging and genetic testing results. Young adults who described a traumatic experience following a family member's diagnosis showed more anxiety than those who had known about their risk since birth. Participants expressed anxiety regarding their future health, reproductive plans and career choices. Conclusion: Confusion, reliance on parents and limited communication with others may be especially applicable to young adults having predictive testing. Implications: Tailored counselling is needed, with appropriate transitional arrangements to enable young adults to assume responsibility for their health care.

Muenke syndrome constitutes the most common syndromic form of craniosynostosis, occurring in 1 in 30,000 live births. The phenotype is variable, ranging from no clinical findings to complex presentation. Facilitating reproductive decision making for couples at genetic risk of having a child with Muenke syndrome is an important aspect of genetic counselling. Prenatal genetic testing for Muenke syndrome is accurate; however the value of testing is uncertain with a variable phenotype. The purpose of this study was to explore attitudes towards prenatal testing in couples where one partner had tested positive for the Muenke mutation. We used a qualitative approach based on thematic analysis and collected data using individual semi-structured interviews with eight parents. Five key themes were: The Muenke journey; Impact and knowledge of diagnosis; Knowledge and attitude to prenatal testing; Stigma and sharing of information; and Information retention. Knowledge of Muenke syndrome and prenatal testing was poor. Genetic information was provided when treatment of their affected child was their paramount concern. Couples reported not sharing genetic information with family due to fear of stigmatisation. Couples cannot make reproductive decisions if lacking appropriate understanding of the choices: timely genetic counselling regarding prenatal testing is needed when relevant to them.

Aim The aim of this study was to determine and explore the relationship between risk perception and health-protective behaviour in individuals with family history of breast cancer. Background Women with increased risk of breast cancer due to inherited predisposition can use health-protective behaviours to facilitate prevention or early detection of cancer. Data sources Four scientific literature databases (CINAHL, Medline, AMED, PsychInfo) and three systematic review databases were searched. Design Mixed method systematic review. Review methods The systematic review of peer-reviewed literature was conducted following the method described by the Centre of Reviews and Dissemination. Research studies published in English between January 2004–December 2014 focussing on individuals with family history of breast cancer were included. Of 210 papers identified, 10 studies were eligible for inclusion. Studies were assessed for their quality. Due to the diversity of the studies, a three-step analysis was undertaken involving narrative summary of the quantitative data, thematic analysis and presentation of integrated results in narrative form. Results A clear link between breast cancer risk perception and some health-protective behaviour was identified. Screening administered by health professionals (mammogram screening, chemoprevention) were appropriately adopted. However, behaviours requiring high individual input (breast self-examination, lifestyle changes) were not as appropriately adopted and the decision process was not as clearly linked to risk perception. Conclusions There is limited understanding about the complex relationship between risk perception and health-protective behaviour. Risk communication and health promotion need to be further developed to assist individuals to better engage with their actual risk and risk-appropriate behaviours, particularly those that require regular personal effort.

Genetic healthcare is developed as a speciality in Europe over the past five decades and initially services were provided by medical specialists. However, due to changes in awareness of the psychosocial impact of genetic conditions and the increase in options available to families, clinical genetic services are now frequently provided by multidisciplinary teams. In many European countries, nonmedical genetic counsellors are working as part of the clinical team, providing both information and support for individuals and families at risk of or affected by a genetic condition. Many genetic counsellors have a background in nursing or other allied health profession or have completed a Master level degree in genetic counselling. The European Network of Genetic Nurses and Counsellors is active in establishing genetic counselling as a profession in Europe through setting standards of competence and prescribing appropriate educational pathways for practitioners. Key concepts Awareness of human heredity was advanced in the nineteenth century through the work of Mendel and Galton. Specialist clinical genetic services were established in Europe in the mid-twentieth century. Genetic counselling may be undertaken by practitioners from a range of health professions. Genetic counsellors are practitioners have a background in one of the health professions or have undertaken a Master degree in genetic counselling. Genetic counsellors provide information, discuss options, support adjustment and facilitate the client to make decisions. Genetic counsellors are specially trained to offer the client psychological support. There are disparities in the ways in which genetic counsellors work in different European countries. The European Network of Genetic Counsellors is working to setting standards of competence and prescribing appropriate educational pathways for practitioners. A set of core competences for genetic counsellors is available as a basis for setting educational standards. Keywords: genetic counsellor; professionalism; competence; multidisciplinary team

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

Objectives the objectives of this study were to explore breast feeding peer supporters׳ motivation to volunteer within a hospital environment, to describe their experiences of volunteering within a hospital environment, to examine the relationships between peer supporters and ward staff, and to identify factors contributing to the future sustainability of the service. Design a qualitative study; peer supporters and clinical ward staff were interviewed using a semi-structured schedule and data were analysed using Thematic Analysis with an inductive approach. Setting and participants six peer supporters and ten ward staff, whose role included giving breast feeding support, working on a maternity ward in one consultant-led unit in England that had been hosting breast feeding peer support volunteers for the previous three years. Findings three main themes were identified: 1. What peer supporters brought to the maternity ward; this included providing breast-feeding mothers with confidence, reassurance and empowerment, and spending ‘unhurried time' with mothers; 2. What motivated the peer supporters; this included an interest in midwifery as a future career and a desire to help people; 3. Factors contributing to the sustainability of the service; these included an existing rolling training programme, however recruitment processes were causing long delays and some aspects of operational management needed improvement. Key conclusions individuals with a passion for breast feeding were willing to volunteer as peer supporters and their experience of the activity was positive. Organisational processes did not always provide peer supporters with a positive experience of the organisation and these needed to be improved as they contributed to the future sustainability of the service. Implications for practice the study indicates that a sustainable hospital-based volunteer service for breast feeding peer support requires a rolling training programme for peer supporters, efficient recruitment processes and effective operational management.

Rapid advances in microarray and sequencing technologies are making genotyping and genome sequencing more affordable and readily available. There is an expectation that genomic sequencing technologies improve personalized diagnosis and personalized drug therapy. Concurrently, provision of direct-to-consumer genetic testing by commercial providers has enabled individuals’ direct access to their genomic data. The expanded availability of genomic data is perceived as influencing the relationship between the various parties involved including healthcare professionals, researchers, patients, individuals, families, industry, and government. This results in a need to revisit their roles and responsibilities. In a 1-day agenda-setting meeting organized by the COST Action IS1303 “Citizen’s Health through public-private Initiatives: Public health, Market and Ethical perspectives,” participants discussed the main challenges associated with the expanded availability of genomic information, with a specific focus on public-private partnerships, and provided an outline from which to discuss in detail the identified challenges. This paper summarizes the points raised at this meeting in five main parts and highlights the key cross-cutting themes. In light of the increasing availability of genomic information, it is expected that this paper will provide timely direction for future research and policy making in this area. Funding Deborah Mascalzoni is supported under Grant Agreement number 305444. Álvaro Mendes is supported by the FCT—The Portuguese Foundation for Science and Technology under postdoctoral grant SFRH/BPD/88647/2012. Isabelle Budin-Ljøsne receives support from the National Research and Innovation Platform for Personalized Cancer Medicine funded by The Research Council of Norway (NFR BIOTEK2021/ES495029) and Biobank Norway funded by The Research Council of Norway—grant number 245464. Heidi Carmen Howard is partly supported by supported by the Swedish Foundation for Humanities and Social Science under grant M13-0260:1), the Biobanking and Molecular Resource Infrastructure of Sweden (BBMRI.se) and the BBMRI-ERIC. Brígida Riso is supported by the Portuguese Foundation for Science and Technology (FCT) under the PhD grant SFRH/BD/100779/2014. Heidi Beate Bentzen receives support from the project Legal Regulation of Information Processing relating to Personalized Cancer Medicine funded by The Research Council of Norway BIOTEK2021/238999.

Women of advanced maternal age have a higher risk of having a child affected by a chromosomal disorder than younger childbearing women and are frequently offered invasive testing during pregnancy. The aim of our systematic review was to identify and analyse the current evidence base regarding factors that influence the uptake of invasive fetal testing by pregnant women of advanced maternal age. We conducted a systematic review. A search of The Cochrane Library, CINAHL, Embase and Medline databases was undertaken for papers published in English and Italian from January 2002 to May 2012. Eleven studies satisfied the inclusion criteria, were subjected to quality assessment and included in the review. We analysed the data using thematic analysis. The factors influencing women were classified as either external or psychosocial factors. External factors included the opportunity for screening, screening results and use of genetic counselling. Psychosocial factors related to ethnicity, socio-demographic status and attendance of partners during counselling. It is difficult to draw firm conclusions as to the principle factors that influence uptake of invasive tests by women of AMA. More research is needed to enhance understanding of relevant factors to ensure that services are offered in a way that acknowledges practical as well as psychosocial influences. This type of research will help to equip midwives and other professionals caring for women during pregnancy to ensure that women are supported to make the choices that are appropriate for them and their families.

Background The development of non-invasive prenatal testing has increased accessibility of fetal testing. Companies are now advertising prenatal testing for aneuploidy via the Internet. Objectives 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. Methods 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. Main results 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. Conclusions 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. © 2015 John Wiley & Sons, Ltd.

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

Genetics and genomics are increasingly relevant to primary healthcare but training is unavailable to many practitioners. Education that can be accessed by practitioners without cost or travel is essential. The Gen-Equip project was formed to provide effective education in genetics for primary healthcare in Europe and so improve patient care. Partners include patient representatives and specialists in genetics and primary care from six countries. Here, we report the progress and challenges involved in creating a European online educational program in genetics.

The expectations for pharmacogenetic testing have been high, partly because of the hype surrounding the human genome project (art & science January 28). But pharmacogenetics will soon become a reality in everyday health care in the UK. Pharmacogenetic testing may not be necessary for the vast numbers of drugs with a wide therapeutic margin and few or no serious side effects. However, it will be helpful in preventing harm when there are difficulties in finding the specific therapeutic dose for a patient.

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

Prenatal testing based on cell-free fetal DNA in maternal serum is now possible for specific monogenic conditions, and studies have shown that the use of non-invasive testing is supported by prospective parents and health professionals. However, some ethical issues have been raised concerning informed consent and paternal rights. The objective of this study was to explore ethical aspects of the use of non-invasive prenatal diagnostic testing for autosomal recessive disorders. We used a qualitative cross-sectional design, based on Thematic Analysis, and recruited 27 individuals of reproductive age who were carriers of one of four conditions: thalassaemia, sickle cell disease, cystic fibrosis or spinal muscular atrophy. Data were collected via focus groups or interviews. Participants were aware of the potential for such tests to be viewed as routine and suggested that obtaining written consent and allowing time for consideration is needed to facilitate autonomous choice and informed consent. All participants felt that mothers should be able to request such tests, but fathers who declined carrier testing should be made aware that fetal test results may reveal their status. We suggest that a written record of consent for non-invasive prenatal diagnosis should be used as a standard to help reinforce the serious nature of the test results. Where the father's carrier status could be revealed through fetal testing, he should be made aware of this before the results are available. Health professionals should discuss with the pregnant woman the best way to manage unsought information about the father's carrier status to minimise family disruption.

Patients who might benefit from genetic services may be denied access through failure to be referred. To investigate the evidence on barriers to referral to genetic services, we conducted a systematic review of empirical evidence on this topic. Nine studies were included in the review. Barriers related to non-genetic healthcare professionals were: lack of awareness of patient risk factors, failure to obtain adequate family history, lack of knowledge of genetics and genetic conditions, lack of awareness of genetic services, inadequate coordination of referral and lack of genetics workforce. Those related to individuals affected by or at risk of a genetic condition were: lack of awareness of personal risk, lack of knowledge and/or awareness of medical history of family members and lack of knowledge of genetic services. Research on access to genetic services is heterogeneous; stronger empirical evidence is needed on factors that are barriers, and further research is needed to develop ‘targeted interventions' for equitable access to genetic services in a range of populations.

Hypertrophic cardiomyopathy (HCM) is the most common cause of sudden cardiac death (SCD) in young adults and often occurs without warning as the primary disease event. The autosomal dominant inheritance pattern precipitates a 1:2 (50%) chance of being affected for future generations, with a diagnosis being synonymous with a spectrum of cardiac pathologies. The locus heterogeneity of HCM affects the cardiac sarcomere resulting in increased risk of cardiovascular death, stroke and the decompensation of left-ventricular function. Recent government initiatives recognise the NHS as instrumental in effective care in this inherited condition, with emphasis placed on responsiveness and a patient-focused approach. Widening public interest in genetics and advances in genome sequencing have seen the emergence of presymptomatic testing, which raises many ethical questions. The confidential nature of genetic information potentially denies other family members access to genetic testing and early clinical screening that could be vital to diagnosis. Genetic counsellors play a vital role in the consultation, education and communication of genetically inheritable diseases, often acting as mediators to multiple members of the same family. But the inherited cardiovascular conditions team needs to play the central role in providing a comprehensive service with the aim of eliminating the experience of such tragic premature deaths.

In many countries, care during pregnancy, labour and the postnatal period is often provided by a practising midwife. Despite specific risks associated with pregnancy in advanced maternal age, attention has shifted away from this group of women with regard to fetal screening and testing. This study aimed to explore the experiences of mothers aged 35 years and over during pregnancy and the perinatal period, as it is unclear whether their needs are currently being met by midwives. Qualitative and quantitative data were collected via an online survey tool between May and August 2012 and the study was advertised on the social networking site Twitter. Of the 397 mothers who completed the survey, many reported receiving good midwifery care, but others felt their care needs were not met or were offered inadequate support. Continuing education for midwives and professional leadership is needed, to support practitioners in developing skills essential to care for women.

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

Development of a registration system for genetic counsellors and nurses in health-care services in Europe

This is the fifth in a series of articles on genetics. This article focuses on the science that informs health care and explains how genetics (the study of inheritance and variation) and genomics (the study of the structure and function of the genome and its interactions with the environment) relate to health, illness and care provision. This article does not set out to review all of the core concepts in genetics that healthcare professionals should be familiar with, although the authors do refer to a number in the article. The authors consider why it is important to have an understanding of these concepts, how this can make a difference to practice and refer the reader to additional sources of information.

KIRK M., TONKIN E. & SKIRTON H. (2014) An iterative consensus-building approach to revising a genetics/genomics competency framework for nurse education in the UK. Journal of Advanced Nursing 70(2), 405–420. doi: 10.1111/jan.12207 AimTo report a review of a genetics education framework using a consensus approach to agree on a contemporary and comprehensive revised framework. BackgroundAdvances in genomic health care have been significant since the first genetics education framework for nurses was developed in 2003. These, coupled with developments in policy and international efforts to promote nursing competence in genetics, indicated that review was timely. DesignA structured, iterative, primarily qualitative approach, based on a nominal group technique. MethodA meeting convened in 2010 involved stakeholders in UK nursing education, practice and management, including patient representatives (n = 30). A consensus approach was used to solicit participants' views on the individual/family needs identified from real-life stories of people affected by genetic conditions and the nurses' knowledge, skills and attitudes needed to meet those needs. Five groups considered the stories in iterative rounds, reviewing comments from previous groups. Omissions and deficiencies were identified by mapping resulting themes to the original framework. Anonymous voting captured views. Educators at a second meeting developed learning outcomes for the final framework. FindingsDeficiencies in relation to Advocacy, Information management and Ongoing care were identified. All competencies of the original framework were revised, adding an eighth competency to make explicit the need for ongoing care of the individual/family. ConclusionModifications to the framework reflect individual/family needs and are relevant to the nursing role. The approach promoted engagement in a complex issue and provides a framework to guide nurse education in genetics/genomics; however, nursing leadership is crucial to successful implementation.

Advances in genetics are bringing unprecedented opportunities for understanding health and disease, developing new therapies and changes in healthcare practice. Many nurses and midwives lack competence and confidence in integrating genetics into professional practice. One approach to enhance understanding of genetics is to simulate clinical exposure through storytelling. Stories are acknowledged as a powerful learning tool, being understandable and memorable, stimulating critical thinking, and linking theory to practice. Telling Stories, Understanding Real Life Genetics is a freely accessible website that sets people's stories within an education framework. The links between the stories and professional practice are made explicit and additional features support learning and teaching. Care of the storytellers within an ethical framework is of paramount importance. Storytellers are viewed as partners in the project. The challenges encountered include preserving the authentic voice and dignity of the storyteller. Project team members have also experienced ‘professional shame’ when negative experiences have been recounted, and the stories have had an impact on the team. The experience of working with storytellers has been positive. The storytellers want to be heard so that others will benefit from their stories. They serve as a reminder of why this work is important.

Non-invasive prenatal testing has been in clinical use for a decade; however, there is evidence that this technology will be more widely applied within the next few years. Guidance is therefore required to ensure that the procedure is offered in a way that is evidence based and ethically and clinically acceptable. We conducted a systematic review of the current relevant literature to ascertain the factors that should be considered when offering non-invasive prenatal testing in a clinical setting. We undertook a systematic search of relevant databases, journals and reference lists, and from an initial list of 298 potential papers, identified 11 that were directly relevant to the study. Original data were extracted and presented in a table, and the content of all papers was analysed and presented in narrative form. Four main themes emerged: perceived attributes of the test, regulation and ethical issues, non-invasive prenatal testing in practice and economic considerations. However, there was a basic difference in the approach of actual or potential service users, who were very positive about the benefits of the technology, compared with other research participants, who were concerned with the potential moral and ethical outcomes of using this testing method. Recommendations for the appropriate use of non-invasive prenatal testing are made. © 2013 John Wiley & Sons, Ltd.

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

Genetic counselling must be offered in the context of presymptomatic testing (PST) for severe late-onset diseases; however, effective genetic counselling is not well defined, and measurement tools that allow a systematic evaluation of genetic practice are still not available. The aims of this qualitative study were to (1) recognize relevant aspects across the whole process of genetic counselling in PST for late-onset neurodegenerative disorders that might indicate effective practice from the consultand's perspective; and (2) analyse aspects of current protocols of counselling that might be relevant for successful practice. We interviewed 22 consultands undergoing PST for late-onset neurological disorders (Huntington disease, spinocerebellar ataxias and familial amyloid polyneuropathy ATTRV30M) in the three major counselling services for these diseases in Portugal. The main themes emerging from the content analysis were (1) the consultand's general assessment of the PST process in genetic services; (2) appropriateness and adaptation of the protocol to the consultand's personal expectations and needs; and (3) consultand's experience of the decision-making process and the role of engagement and counselling skills of the counsellor. Participants also provided a set of recommendations and constructive criticisms relating to the length of the protocol, the time gap between consultations and the way results were delivered. These issues and the construction of the relationship between counsellor and counselee should be further investigated and used for the improvement of current protocols of counselling.

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.

In March 2005, a group of experts from the European Society of Human Genetics and European Society of Human Reproduction and Embryology met to discuss the interface between genetics and assisted reproductive technology (ART), and published an extended background paper, recommendations and two Editorials. Seven years later, in March 2012, a follow-up interdisciplinary workshop was held, involving representatives of both professional societies, including experts from the European Union Eurogentest2 Coordination Action Project. The main goal of this meeting was to discuss developments at the interface between clinical genetics and ARTs. As more genetic causes of reproductive failure are now recognised and an increasing number of patients undergo testing of their genome before conception, either in regular health care or in the context of direct-to-consumer testing, the need for genetic counselling and preimplantation genetic diagnosis (PGD) may increase. Preimplantation genetic screening (PGS) thus far does not have evidence from randomised clinical trials to substantiate that the technique is both effective and efficient. Whole-genome sequencing may create greater challenges both in the technological and interpretational domains, and requires further reflection about the ethics of genetic testing in ART and PGD/PGS. Diagnostic laboratories should be reporting their results according to internationally accepted accreditation standards (International Standards Organisation - ISO 15189). Further studies are needed in order to address issues related to the impact of ART on epigenetic reprogramming of the early embryo. The legal landscape regarding assisted reproduction is evolving but still remains very heterogeneous and often contradictory. The lack of legal harmonisation and uneven access to infertility treatment and PGD/PGS fosters considerable cross-border reproductive care in Europe and beyond. The aim of this paper is to complement previous publications and provide an update of selected topics that have evolved since 2005. ispartof: European Journal of Human Genetics vol:21 issue:Suppl 2 pages:S1-S21 ispartof: location:England status: published

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.

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.

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.

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.

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.

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.

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.