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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.

Undertaking presymptomatic or predictive genetic testing should involve a considered choice. Decisions regarding genetic testing for young adults have to be considered within the context of their key life stage, which may involve developing a career, forming partnerships and/or becoming parents. The aim of this study was to develop a theoretical model regarding the factors involved when young adults (18–30 years) undergo presymptomatic genetic testing for inherited cancer syndromes. The model evolved from synthesis of results of a sequential mixed methods study involving a systematic review, a qualitative study and a quantitative study. The resulting model shows that young adults at risk of inherited cancer syndromes are influenced by others to have testing and come to counselling with their decision already made. However, genetic counselling enhances their feelings of autonomy and integration of their genetic status into their lives. Our theoretical model could be a valid support during the genetic counselling process for young adults and their parents, as it may sensitise professionals to the specific needs of this population, including education and support to autonomous decision-making. Counselling approaches should be modified in this population: an inclusive, multi-step counselling process is needed, with timing and setting set according to the specific features of this sensitive population. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s12687-021-00548-x.

This paper details a competency framework to help address the need for structured guidance around genetic and genomic education and training for midwives. A one-day expert panel consensus meeting was convened to review and revise a previously published joint framework for nurses, midwives and health visitors. Fifteen midwives from practice, management, education and policy and three genetic counsellors (two with midwifery backgrounds) attended. An in-depth knowledge of genetics/genomics was not a requirement. Personal narratives covering a range of experiences across the pre- and post-natal periods were used to stimulate discussion and debate. Identified themes were mapped to the original framework to identify gaps and differences. Inclusion of additional themes into the new framework was voted upon. All original competencies were found to be valid but required amendment in order to focus specifically on the role of the midwife and the needs of the mother, child and wider family. Revisions have resulted in a framework that is more directive and which addresses the time-critical nature of information-giving, decision-making, testing and referral that are crucial components of midwifery practice. Learning outcomes and practice indicators offer educators and trainers a means of developing student/staff knowledge and skills over time and with increasing experience.

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.

Infant mental health (IMH) is a growing area of practice for health, education and social care practitioners, as links are increasingly made between experiences in the early years and subsequent child development, mental health and well-being. It is unclear how parents perceive IMH and use knowledge relating to IMH with their children. We conducted a systematic review, the aim of which was to determine parents’ perceptions of IMH and how they utilize this knowledge with their infants. We undertook a search of relevant databases and journals and from an initial list of 4147 potential papers, identified 16 for the review. Original data were extracted and presented in a table, and the content of all papers was analysed thematically and presented in narrative form. Three main themes emerged from the available research: knowledge and understanding of child development, influences of society and culture, and interpretation of emotions and expressions. Our results indicate that research is limited in terms of parental perspectives of IMH and how they obtain and use this knowledge. Further research is needed to investigate this topic to maximize mental well-being in infancy and later life.

Enabling informed choice is an essential component of care when offering young adults presymptomatic testing for a genetic condition. A systematic review on this topic revealed that many young adults grew up with little information regarding their genetic risk and that parents had applied pressure to them during the testing decision-making process. However, none of the studies retrieved were conducted in South European countries. To address this gap, we undertook a qualitative study based on grounded theory to explore the psychosocial implications of presymptomatic testing for hereditary cancer in Italian young adults aged 18–30 years. Interviews were conducted on three occasions: 1 month before counselling, and 2 weeks and 6 months after results. Data were coded and grouped under themes. A total of 42 interviews were conducted. Four themes emerged: knowledge, genetic counselling process, decision making and dealing with test results. Although participants grew up with little or no information about their genetic risk, none expressed regret at having the test at a young age. Pre-test counselling was appreciated as a source of information, rather than support for decision making. Decisions were often made autonomously and sometimes conflicted with parents’ wishes. Participants reported no changes in health behaviours after testing. This evidence highlights the need for a comprehensive, longitudinal counselling process with appropriate timing and setting, which supports ‘parent-to-offspring’ risk communication first and decision making by young adults about presymptomatic testing and risk management afterwards. In conclusion, it is clear that counselling approaches for presymptomatic testing may require modification both for young adults and their parents.

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.

The aim of the European Board of Medical Genetics has been to develop and promote academic and professional standards necessary in order to provide competent genetic counselling services. The aim of this study was to explore the impact of the European registration system for genetic nurses and counsellors from the perspectives of those professionals who have registered. Registration system was launched in 2013. A cross-sectional, online survey was used to explore the motivations and experiences of those applying for, and the effect of registration on their career. Fifty-five Genetic Nurses and Counsellors are registered till now, from them, thirty-three agreed to participate on this study. The main motivations for registering were for recognition of their work value and competence (30.3%); due to the absence of a registration system in their own country (15.2%) and the possibility of obtaining a European/international certification (27.3%), while 27.3% of respondents registered to support recognition of the genetic counselling profession. Some participants valued the registration process as an educational activity in its own right, while the majority indicated the greatest impact of the registration process was on their clinical practice. The results confirm that registrants value the opportunity to both confirm their own competence and advance the genetic counselling profession in Europe.

Presymptomatic testing for hereditary cancer syndromes should involve a considered choice. This may be particularly challenging when testing is undertaken in early adulthood. With the aim of exploring the psychosocial implications of presymptomatic testing for hereditary cancer in young adults and their parents, a cross-sectional survey was designed. Two questionnaires were developed (one for young adults who had considered presymptomatic testing, one for parents). Questionnaires were completed by 152 (65.2%) young adults and 42 (73.7%) parents. Data were analysed using descriptive statistics, inferential testing, and exploratory factor analysis and linear regression analysis. Young adults were told about their potential genetic risk at a mean age of 20 years; in most cases, information was given by a parent, often in an unplanned conversation. Although testing requests were usually made by young adults, the majority of parents felt they had control over the young adult’s decision and all felt their children should be tested. Results suggest that some young adults did not understand the implications of the genetic test but complied with parental pressure. Counselling approaches for presymptomatic testing may require modification both for young adults and their parents. Those offering testing need to be aware of the complex pressures that young adults can experience, which can influence their autonomous choices. It is therefore important to emphasise to both parents and young adults that, although testing can bring benefits in terms of surveillance and prevention, young adults have a choice.

The European Board of Medical Genetics: development of a professional registration system in Europe

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.

The aims of the original study referred to in this paper were to explore the information needs of people with learning disabilities with respect to consent for genomic tests, and to identify ways of facilitating informed consent for such tests. In this research methods review paper, we consider the ethical issues involved in recruitment for our study and describe the process of recruiting vulnerable participants via gatekeepers. We discuss the ethical issues under the themes ‘freedom from coercion’, ‘disclosure of information’ and ‘competence’. In conclusion, we acknowledge the paradox that exists in learning disability research: the importance of protecting members of a vulnerable group against the need to include people with a learning disability in order to gather the best possible evidence. However, a focus on wider inclusion will result in a more robust body of knowledge concerning the health and welfare of people with learning disabilities.

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 mental health of new mothers is a public health concern as it is likely to have an impact on the mother herself, her close relationships and the behavioural and emotional health of her children. Post-traumatic stress disorder affects some women after childbirth. Objective the aim of this study was to explore how women were affected by the memories of a birth that they perceived as traumatic. Design in this paper the authors report the qualitative analysis of interview data from seven postnatal women reporting symptoms of PTSD. Participants were recruited from a large NHS Trust in the South West of England. Thematic analysis was used to analyse interview data collected from the seven women reporting symptoms of postnatal PTSD. Findings complicating factors such as relationship difficulties and pre-existing health problems appeared to contribute to postnatal post-traumatic stress disorder and some women reported difficulty expressing emotions. The study findings confirm that women value good relationships with midwives during labour. Key conclusions and implications for practice antenatal screening for personality traits such as alexithymia (difficulty expressing emotions) may be useful and midwives should be alert to current life events that may increase women's vulnerability to post-traumatic stress disorder.

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.

In Europe, genetic counsellors are employed in specialist genetic centres or other specialist units. According to the European Board of Medical Genetics, the genetic counsellor must fulfil a range of roles, including provision of information and facilitation of psychosocial adjustment of the client to their genetic status and situation. To evaluate the extent to which genetic counsellors fulfil their prescribed roles, we conducted a systematic review of the published relevant scientific evidence. We searched five relevant electronic databases (Medline, CINAHL, SocIndex, AMED and PsychInfo) using relevant search terms and handsearched four subject-specific journals for research-based papers published in English between 1 January 2000 and 30 June 2013. Of 419 potential papers identified initially, seven satisfied the inclusion criteria for the review. Themes derived from the thematic analysis of the data were: (i) rationale for genetic counsellors to provide care, (ii) appropriate roles and responsibilities and (iii) the types of conditions included in the genetic counsellor caseload. The findings of this systematic review indicate that where genetic counsellors are utilised in specialist genetic settings, they undertake a significant workload associated with direct patient care and this appears to be acceptable to patients. With the burden on genetic services, there is an argument for the increased use of genetic counsellors in countries where they are under-utilised. In addition, roles undertaken by genetic counsellors in specialist genetic settings could be adapted to integrate genetic counsellors into multi-disciplinary teams in other specialisms.

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.

Global trends in public health nursing (PHN) suggest the value of community-based social research. However, it is not always clear how social research relationships may be of benefit to PHN or how such skills can best be learned and applied. To advance this understanding, we present a qualitative analysis of the development of social research relationships in PHN. Using a background literature review as a foundation, our qualitative mixed method strategy involved a comparative case-study analysis based on the authors' participant observation in two distinct postnatal group settings. Our findings suggest that participant observation facilitates the advancement of social research relationships through practitioner-research management of role conflict. Reflexivity and reciprocity is an emergent relational process, which relies upon a de-professionalization of the traditional PHN role. Conversely, social research relationships help build PHN capacity for family health needs assessment. Thus, we contend that the application of participant observation enables the development of social research relationships, which advance the practice of PHN in postnatal support settings.

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.

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

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

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.