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

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.

Background: Nurses now require a basic knowledge of genetics to provide patient care in a range of settings., Objectives: To determine Turkish registered nurses' current knowledge and educational needs in relation to genetics., Design: A descriptive, cross-sectional study., Settings: Turkish registered nurses working in a university hospital in Turkey were recruited., Participants: All registered nurses were invited to participate and 175 completed the study., Methods: The survey instrument, basic knowledge of health genetics, confidence in knowledge and the nurses' need for genetics education were used to collect data., Results: The majority (81.1%, n=142) of participants indicated that genetics was not taught during their degree program, although 53.1% to 96% of respondents felt confident in defining different genetic concepts. The average genetics knowledge score was 6.89±1.99 of a possible 11 (range 0-11). The majority (70.3%) expressed a strong wish to attend a continuing nursing education program in genetics., Conclusions: The study shows that although Turkish nurses are not sufficiently knowledgeable to apply genetics in practice, they are willing to have more education to support their care of patients. Nurses need to have more education related to genetics in accordance with advances in human genetics to optimize health care., (Copyright © 2014 Elsevier Ltd. All rights reserved.)

Aim: To report a review of a genetics education framework using a consensus approach to agree on a contemporary and comprehensive revised framework., Background: Advances 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., Design: A structured, iterative, primarily qualitative approach, based on a nominal group technique., Method: A 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., Findings: Deficiencies 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., Conclusion: Modifications 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., (© 2013 The Authors. Journal of Advanced Nursing published by John Wiley & Sons Ltd.)

Aim:   To ascertain the extent to which nurses are achieving the core competences in genetics appropriate for nursing practice., Background:   There is an increasing focus on genetics in nursing, and relevant core competences have been developed. However, it is unclear whether nurses are achieving these competences., Data Sources:   Four databases (CINAHL, Medline, The Allied and Complementary Medicine Database, and British Nursing Index) were searched. Hand searching of relevant reference lists and author names was also conducted., Design: Systematic review., Review Methods:   The systematic review was undertaken using methods described by the Centre for Reviews and Dissemination (University of York, 2008). Research studies published in English between January 2000-January 2011 reporting data focussing on nurse competence in genetics were eligible for inclusion. Data were abstracted for inclusion in a table and subjected to thematic analysis: due to diversity of studies, a meta-analysis was not performed., Results:   Of 269 papers retrieved, 13 were eligible for inclusion. There were five main themes: knowledge, experience in using skills, ethical practice, perceived relevance, and confidence. Although the majority of participants believed genetics was relevant to their role, their knowledge of genetic concepts was generally poor; however, most studies measured self-reported knowledge rather than assessing actual knowledge., Conclusions:   There is little evidence on this topic, but it does appear from the available evidence that nurses are not demonstrating the competences needed to offer holistic health care to people with genetic conditions. Pre- and post-registration programmes must be enhanced to include genetic health care., (© 2012 Blackwell Publishing Ltd.)

Purpose: To provide nurse educators with an updated overview of advances in genetics and genomics in the context of the holistic perspective of nursing., Organizing Framework: Recent advances in genetic and genomic research, testing, therapies, and resources are presented, and the continuing importance of the family history is discussed., Methods: Genomic nurse experts reviewed recent literature and consumer resources to elucidate updates in technology through the lens of the genetically vulnerable patient and family., Findings: Genetic and genomic technologies are becoming routinely used in health care, and nurse educators will be challenged to incorporate these technologies and implications for patients and families into educational programs., Conclusions: New technology and its applications are perennial challenges to nurse educators, but the common focus for nursing, historically and geographically, is health promotion, symptom management, and disease prevention. Education for the next generation of nurses can lay a foundation in genetics and genomics that will enable interpretation and responsible integration of new technologies in a context of individual and family value systems, personal experiences, risk perception, decision consequences, and available resources., Clinical Relevance: Nurses are ideally situated to inform patients about new options in healthcare, and nurse educators are challenged to prepare their students to interpret and responsibly integrate new genetic-genomic information into practice., (© 2010 Sigma Theta Tau International.)

Abstract 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. Highlights • Genomics is an integral component of the maternal and family health care pathway. • This is the first genomics competency framework explicitly for midwifery practice. • Learning outcomes and practice indicators develop over time and with experience. • Competencies are written to accommodate future genomic advances in midwifery. • Genomic competence can improve care, consistency and safety for women and families. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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

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. [ABSTRACT FROM AUTHOR]

Summary: 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. [Copyright &y& Elsevier]

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

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. [ABSTRACT FROM AUTHOR]

In some areas of health care, genomics is having a steadily increasing impact on clinical practice. Yet, in other areas, genomic developments are considered to be at the periphery of care. Health-care professionals from such areas might feel that the potential of genomics is exaggerated. To explore this issue, genetic nurse specialists were invited to submit case studies and to identify barriers and facilitators in incorporating genomics into mainstream nursing practice. Twenty-five cases were submitted and a total of 10 barriers and seven facilitators were identified. These cases were presented as a basis for debate in a session conducted at the 2006 Annual Conference of the International Society of Nurses in Genetics. The majority of delegates agreed that genomics would have a profound effect on health care and nursing within the next 5 years, particularly in oncology. That nurses do not see genomics as being relevant to their practice was identified as the greatest barrier, by a narrow majority. Specialist nurses in any field have a role in acting as agents of change, educators, and consultants to non-specialists. It is clear that genetics nurse specialists still have a considerable challenge in raising awareness about the relevance of genomics to mainstream nursing practice. [ABSTRACT FROM AUTHOR]

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

Aim. The aim of this study was to assess understanding of genetics and attitudes towards genetic testing for clinical and research purposes in a group of older adults in the UK. Background. Increasingly, genomics will have an impact on the diagnosis, prevention and treatment of common diseases and the prescription of drugs. The chance of being affected by a medical condition increases with age and therefore the use of genetic testing as part of general health-care practice has an impact on the older population. Methods. Older adults were recruited to two focus groups ( n = 7 and n = 10 respectively). Focus group discussions were guided by a series of questions and were audiotaped. The transcribed data were coded for significant statements, which were organized under thematic headings. Results. The mean age of participants was 76 years. The main themes to emerge were: understanding, approach to genetic testing and conditions for testing. In this cohort, the older adults were largely unsure about the underlying scientific basis of genetics but were keen to learn more. While enhanced medical knowledge could enable preventive measures to be taken and so reduce suffering, it was acknowledged that for some people knowing the future could potentially cause anxiety and harm. Participants were wary about research being used to benefit private companies and voiced ethical concerns about potential coercion to be tested and the misuse of science. However, all participants had an altruistic approach that influenced their willingness to be tested to benefit others in their family or the wider community. Conditions for testing included provision of information about the purpose of testing and feedback on the results. Conclusions. Older adults are positive about the opportunities presented by genetic testing for clinical reasons and research, but need accurate information about the reasons for and implications of such testing. Relevance to clinical practice. The results of this study confirm the need for nurses to be proactive in developing the genetic competencies required to detect potential familial disease, make appropriate referrals to genetic services and ensure informed consent is obtained for genetic testing. [ABSTRACT FROM AUTHOR]

Purpose: To review international efforts to incorporate genetics content into nursing education curricula. Organizing Framework: A discussion of the progress in nursing education programs in selected countries to educate students for genomics-based health care. Information is based on review of the literature and curriculum change efforts by the authors. Conclusions: The lack of agreed-upon minimum competencies impedes efforts to educate nurses for genomics-based health care. Nationally and internationally recognized documents are useful for collaborative efforts to establish minimal competencies in knowledge, skills, and attitudes for nurses with basic and advanced education. Curriculum change that incorporates minimum competencies will require nursing faculty to improve their knowledge base in genomics-based health care. Partnerships among nurses in different countries are needed for successful genomics education programs for faculty. Journal of Nursing Scholarship, 2005; 37:3, 196-202. ©2005 Sigma Theta Tau International. [ABSTRACT FROM AUTHOR]

The annual conference of the International Society of Nurses in Genetics was held in Salt Lake City, USA on October 23–25, 2005. The abstracts published below were peer-reviewed submissions that were selected as spoken presentations to the conference. Nurses from any country who have an interest in genetic healthcare are welcome to join ISONG. Further details are available on the website ( ). [ABSTRACT FROM AUTHOR]