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Hospitalized patients and their families may be reluctant to express safety concerns. We aimed to describe safety and quality concerns experienced by hospitalized patients and families and factors and outcomes surrounding decisions about voicing concerns, including those related to the COVID-19 pandemic. We conducted semi-structured interviews with 19 discharged inpatients or family members in a qualitative descriptive design. Some participants reported concern about staff competency or knowledge, communication and coordination, potential treatment errors, or care environment. Factors influencing feeling safe included healthcare team member characteristics, communication and coordination, and safe care expectations. Reasoning for voicing concerns often included personal characteristics. Reasons for not voicing concerns included feeling no action was needed or the concern was low priority. Outcomes for voicing a concern were categorized as resolved, disregarded, and unknown. These findings support the vital importance of open safety communication and trustworthy response to patients and family members who voice concerns.

Background: Doctoral programs continue to have high attrition rates. This article discusses barriers and success strategies for developing a new PhD program in nursing. Method: A university in the southeastern United States surveyed current Master of Science in Nursing students and graduates regarding barriers to enrolling in a doctoral program. The faculty and administrators developed strategies to guide students to success in a new PhD program. Results: Significant barriers to entering nursing doctoral education included financial constraints, job and family responsibilities, lack of program flexibility and faculty mentoring, and fear of research and the dissertation process. Strategies instituted were accelerated learning, convenient scheduling, and early guided dissertation work. Conclusion: Recommendations for strengthening doctoral education are aimed at three significant components to guide the dissertation process: commitment, connectedness, and continuous improvement. [ J Nurs Educ . 2021;60(7):400–403.]

Background As genomic science moves beyond government-academic collaborations into routine healthcare operations, nursing’s holistic philosophy and evidence-based practice approach positions nurses as leaders to advance genomics and precision health care in routine patient care. Purpose To examine the status of and identify gaps for U.S. genomic nursing health care policy and precision health clinical practice implementation. Methods We conducted a scoping review and policy priorities analysis to clarify key genomic policy concepts and definitions, and to examine trends and utilization of health care quality benchmarking used in precision health. Findings Genomic nursing health care policy is an emerging area. Educating and training the nursing workforce to achieve full dissemination and integration of precision health into clinical practice remains an ongoing challenge. Use of health care quality measurement principles and federal benchmarking performance evaluation criteria for precision health implementation are not developed. Discussion Nine recommendations were formed with calls to action across nursing practice workforce and education, nursing research, and health care policy arenas. Conclusions To advance genomic nursing health care policy, it is imperative to develop genomic performance measurement tools for clinicians, purchasers, regulators and policymakers and to adequately prepare the nursing workforce.

Background Hospitals need to prevent, respond to, and learn from safety risks and events perceived by patients and families, who in turn rely on nurses to respond to and report their safety concerns. Objectives The aim of the study was to describe the process by which bedside nurses evaluate and determine the appropriate response to safety concerns expressed by patients or their families. Methods A qualitative design was employed. We recruited inpatient bedside nurses in an 811-bed Midwest academic medical center. Nurses provided demographic information and participated in semistructured interviews designed to elicit narratives related to evaluation and response to patient- or family-expressed safety concerns. Data analysis and interpretation were guided by grounded theory. Results We enrolled 25 nurses representing 22 units. Based on these nurses' experiences, we developed a grounded theory explaining how nurses evaluate a patient or family safety concern. Nurses make sense of the patient's or family's safety concern in order to take action. Achieving this goal requires evaluation of the meaningfulness and reasonableness of the concern, as well as the potential effect of the concern on the patient. Based on this nursing evaluation, nurses respond in ways designed to (a) manage emotions, (b) immediately resolve concerns, (c) involve other team members, and (d) address fear or uncertain grounding in reality. Nurses reported routinely handling safety concerns at the bedside without use of incident reporting. Discussion Safety requires an interpersonal and evaluative nursing process with actions responsive to patient and family concerns. Safety interventions designed to be used by nurses should be developed with the dynamic, cognitive, sensemaking nature of nurses' routine safety work in mind. Being sensitive to the vulnerability of patients, respecting patient and family input, and understanding the consequences of dismissing patient and family safety concerns are critical to making sense of the situation and taking appropriate action to maintain safety. Measuring patient safety or planning improvement based on patient or family expression of safety concerns would be a difficult undertaking using only standard approaches. A more complex approach incorporating direct patient engagement in data collection is necessary to gain a complete safety picture.

Precision health refers to personalized healthcare based on a person’s unique genetic, genomic, or omic composition within the context of lifestyle, social, economic, cultural and environmental influences to help individuals achieve well-being and optimal health. Precision health utilizes big data sets that combine omics (i.e. genomic sequence, protein, metabolite, and microbiome information) with clinical information and health outcomes to optimize disease diagnosis, treatment and prevention specific to each patient. Successful implementation of precision health requires interprofessional collaboration, community outreach efforts, and coordination of care, a mission that nurses are well-positioned to lead. Despite the surge of interest and attention to precision health, most nurses are not well-versed in precision health or its implications for the nursing profession. Based on a critical analysis of literature and expert opinions, this paper provides an overview of precision health and the importance of engaging the nursing profession for its implementation. Other topics reviewed in this paper include big data and omics, information science, integration of family health history in precision health, and nursing omics research in symptom science. The paper concludes with recommendations for nurse leaders in research, education, clinical practice, nursing administration and policy settings for which to develop strategic plans to implement precision health. Keywords: Nurses, Genomics, Omics, Precision medicine, Precision health

Background In the United States, access to genomic risk assessment, testing, and follow up care is most easily obtained by those who have sufficient financial, educational, and social resources. Multiple barriers limit the ability of populations without those resources to benefit from health care that integrates genomics in assessment of disease risk, diagnosis, and targeted treatment. Purpose To summarize barriers and potential actions to reduce genomic health care disparities. Method Summarize authors' views on discussions at a workshop hosted by the National Academy of Medicine. Discussion Barriers include access to health care providers that utilize genomics, genetic literacy of providers and patients, and absence of evidence of gene variants importance in ancestrally diverse underserved populations. Conclusion Engagement between underserved communities, health care providers, and policy makers is an essential component to raise awareness and seek solutions to barriers in access to genomic health care for all populations.

Hospitals need to prevent, respond to, and learn from safety risks and events perceived by patients and families, who in turn rely on nurses to respond to and report their safety concerns.The aim of the study was to describe the process by which bedside nurses evaluate and determine the appropriate response to safety concerns expressed by patients or their families.A qualitative design was employed. We recruited inpatient bedside nurses in an 811-bed Midwest academic medical center. Nurses provided demographic information and participated in semistructured interviews designed to elicit narratives related to evaluation and response to patient- or family-expressed safety concerns. Data analysis and interpretation were guided by grounded theory.We enrolled 25 nurses representing 22 units. Based on these nurses' experiences, we developed a grounded theory explaining how nurses evaluate a patient or family safety concern. Nurses make sense of the patient's or family's safety concern in order to take action. Achieving this goal requires evaluation of the meaningfulness and reasonableness of the concern, as well as the potential effect of the concern on the patient. Based on this nursing evaluation, nurses respond in ways designed to (a) manage emotions, (b) immediately resolve concerns, (c) involve other team members, and (d) address fear or uncertain grounding in reality. Nurses reported routinely handling safety concerns at the bedside without use of incident reporting.Safety requires an interpersonal and evaluative nursing process with actions responsive to patient and family concerns. Safety interventions designed to be used by nurses should be developed with the dynamic, cognitive, sensemaking nature of nurses' routine safety work in mind. Being sensitive to the vulnerability of patients, respecting patient and family input, and understanding the consequences of dismissing patient and family safety concerns are critical to making sense of the situation and taking appropriate action to maintain safety. Measuring patient safety or planning improvement based on patient or family expression of safety concerns would be a difficult undertaking using only standard approaches. A more complex approach incorporating direct patient engagement in data collection is necessary to gain a complete safety picture.

Background There is evidence that fear of negative nurse response may prevent hospitalized patients from sharing safety concerns, adversely affecting patient safety. Purpose The purpose of the present study was to describe the process by which bedside nurses recognize and respond to safety concerns expressed by patients or their families. Methods Twenty-five bedside nurses from 30 maternal-child, intensive, medical-surgical, and psychiatric inpatient units within an academic medical center participated in semi-structured interviews. Data were analyzed using grounded theory. Findings Nurses reported creating space for open safety communication to foster trust and maintain patient safety and sense of security. Nurses anticipated safety concerns, invited safety discussion, were accessible, recognized insecurity, reacted in a trustworthy way, shared a plan, and followed up with patient and family. Discussion This process involves multiple interacting components, yet was remarkably consistent across acute care settings, despite differences in nurses, patient populations, and unit cultures.

Introduction Constant vigilance to manage severe food allergies (FAs) can lead to high stress. Additional stress may develop during life-course transitions, such as the transition to college. However, few studies have evaluated everyday and FA-related stress in college students with FA and their parents. This analysis examined experiences of 26 college students with FA and their parents. Methods Students and parents completed online surveys in a mixed-methods exploratory study of everyday and FA-related stressors, potential contributing factors, and FA management. Results FA affected nearly all areas of students' lives. Management required constant vigilance because of issues of trust in others. However, nearly 40% of students did not consistently carry emergency medication to counteract reactions. Parents worried from a distance while learning to trust their child's FA management capabilities. Discussion Additional preparation and support for college students with severe FA and their parents may help improve stress and FA management.

Background Prevalence and complexity of persons with multiple chronic conditions (MCC), also known as multimorbidity, are shifting clinical practice from a single disease focus to one considering MCC and symptoms. Although symptoms are intricately bound to concepts inherent in MCC science, symptoms are largely ignored in multimorbidity research and literature. Purpose Introduce an Integrated Model of Multimorbidity and Symptom Science. Methods Critical integrative review and synthesis process. Findings The model comprises three primary domains: 1. Contributing/ Risk Factors; 2. Symptom/Disease/Treatment Interactions; and 3. Patient Outcomes. Discussion The model highlights the multilevel nature of contributing factors and the recursive interactions among multiple etiologies, conditions, symptoms, therapies, and outcomes.

Genomic nurse scientists are at the intersection of human genomics research and the science of health. As the potential health benefits of precision medicine are considered, it is timely to reflect on nursing science's contributions to advancing the understanding of genomic aspects of health. During the decade of the 1990s, genetics was recognized as an essential component of nursing science (Lashley, 1997; Pesut, 1999), but was not yet a prominent focus of nursing research. Over the past two decades, the National Institute of Nursing Research (NINR) has identified the importance of the basic, behavioral, and social science aspects that influence health across populations, communities, and healthcare settings (NINR, 2011; Sigmon, Grady, & Amende, 1997). Also, during this period, the NINR has maintained an emphasis on the integration of behavior and biology (Grady, 2006). The current NINR Strategic Plan (NINR, 2011) continues this emphasis with its focus on investigation of multiple determinants of health, including genomics.During this same time period, a trajectory of genomics research was mapped (Green, Guyer, & National Human Genome Research Institute, 2011) in which the progression of genomic science moved from understanding the structure of the genome, through understanding the biology of genomes and disease, to advancing the science of medicine and improving the effectiveness of healthcare. Phases of clinical translation of genomic discovery to improve health include genome-based discovery, evidence-based recommendations, incorporation into the healthcare system, and evaluation of impact on health of populations (Khoury, Gwinn, Bowen, & Dotson, 2012). This trajectory of genomic science research also includes discovery of biology of diseases and symptoms, as well as examination of nursing interventions tailored for clients based on genomic variations (Munro, 2015). The dissemination and implementation phase addresses how to enable application of best evidence to improve healthcare outcomes (Eccles & Mittman, 2006). An awareness of genomic aspects of emerging areas of science was identified by the Council for the Advancement of Nursing Science (CANS) Idea Festival Committee (Henly et al., 2015) as a priority in its report on implications for PhD education. New healthcare policies will be needed to enable translation of genomic discoveries into health care (Institute of Medicine, 2014, 2015). Elements of the Precision Medicine Initiative (www.whitehouse.gov/precisionmedicine) are consistent with a nursing science agenda, as described in the NINR Strategic Plan (NINR, 2011), that includes a focus on innovation, as well as health promotion, disease prevention, and advancing quality of life. Further, the future of symptom science is envisioned as including knowledge development regarding genomic and context factors influencing symptom development and expression (Corwin et al., 2014).An invitational workshop at the National Institutes of Health (NIH) produced the Genomic Nursing Science Blueprint (hereafter referred to as the Blueprint), which identified crucial genomics problems relevant to health (https://www.ninr.nih.gov/sites/www.ninr.nih.gov/files/ jnu_12007_Rev_EV.pdf; Calzone et al., 2013). The systematic evidence review, key stakeholder testimony, and main meeting generated the listing of research topics that were then mapped into the NINR Strategic Plan, which contains themes of symptom science, wellness, self-management, and end-of-life and palliative care. The Blueprint contains four components: health promotion and disease prevention, advancing quality of life, innovation, and training, plus a fifth category of cross-cutting themes (e.g., health disparity and policy). In August 2013, a genomic nursing science workshop was convened by the NINR and the Office of Rare Diseases Research, National Center for Advancing Translational Sciences, to consider research topics that address behavioral and social sciences, as well as the biological aspects of genomic nursing science (Tully & Grady, 2015). …

Huntington disease (HD) is a neurodegenerative condition with prominent motor (including oculomotor), cognitive, and psychiatric effects. While neuropsychological deficits are present in HD, motor impairments may impact performance on neuropsychological measures, especially those requiring a speeded response, as has been demonstrated in multiple sclerosis and schizophrenia. The current study is the first to explore associations between oculomotor functions and neuropsychological performance in HD. Participants with impaired oculomotor functioning performed worse than those with normal oculomotor functioning on cognitive tasks requiring oculomotor involvement, particularly on psychomotor speed tasks, controlling for covariates. Consideration of oculomotor dysfunction on neuropsychological performance is critical, particularly for populations with motor deficits.

The purpose of this study was to identify characteristics of family relationships associated with communication of genetic risk and testing behaviors among at-risk relatives in families with an inherited cardiac condition. Data were collected from 53 patients and parents of children with an inherited cardiac condition through interviews, pedigrees, and surveys. Associations were examined among family relationship characteristics and whether at-risk relatives were informed about their risk and tested for disease. Of 1,178 at-risk relatives, 52.5% were informed about their risk and 52.1% of those informed were tested. Emotional closeness, relationship quality, and communication frequency had significant bivariate associations with genetic risk communication. Communication frequency was associated with genetic risk communication and testing in multivariate models. This study provides new insight into the extent of genetic risk communication and testing in families with inherited cardiac conditions. Family relationships, especially communication frequency, are critical factors in family communication of genetic risk.

Background Pending revisions to the Common Rule include topics consistent with respect for persons, justice, and beneficence for research subjects in studies using omics technologies and are relevant to omics research. Purpose Synthesize trends in bioethics, precision health, and omics nursing science for novice and experienced nursing scholars from which to consider bioethics questions. Methods Review topics addressed in the National Institute of Nursing Research (NINR) strategic plan, Common Rule pending revisions, and publications regarding human subjects protection policies. Discussion Omics research involves decisions regarding understandable informed consent, broad consent, data sharing, trust, equal benefit, equal access, societal variables, privacy, data security, and return of findings to participants. Conclusion Principles of respect for persons, justice, and beneficence as articulated in the Belmont report and reflected in the American Nurses Association (ANA) Code of Ethics provide guidance for human subjects protection procedures to advance omics and nursing science.

The ability to complete daily tasks is diminished in Huntington disease (HD), an autosomal dominantly inherited neurodegenerative disorder resulting from an expansion in cytosine, adenine and guanine (CAG) bases in the HTT gene (Huntington's Disease Collaborative Research Group, 1993). Cognitive, behavioral, and motor changes all occur in HD, with cognitive changes identifiable prior to motor onset (Beglinger et al., 2010; Biglan et al., 2013; Duff et al., 2010), which is the period of prodromal HD. Functional impairment increases in prodromal HD as motor diagnosis approaches (Muthen & Muthen, 1998–2010; Paulsen et al., 2006, 2008, 2010; Tabrizi et al., 2009, 2011, 2012), impacting daily living skills, work functions, and interpersonal relationships (Downing et al., 2013; Downing, Williams, Leserman, & Paulsen, 2012; Paulsen, 2010; Williams, Downing, Vaccarino, Guttman, & Paulsen, 2011). Assessment of daily function changes in prodromal HD is important for clinical monitoring and management, as well as for tracking functional capacity in clinical trials (Beglinger et al., 2010; Paulsen et al., 2010). Previous work examining functional impairments in HD focused primarily on those who had already been given a motor diagnosis. Functional decline, as measured by the Total Functional Capacity (TFC) scale (Huntington Study Group, 1996), has been used widely in clinical trials as an outcome measure (Marder et al., 2000). Although motor impairments clearly lead to a variety of functional deficits (Brandt et al., 1984; Rothlind, Bylsma, Peyser, Folstein, & Brandt, 1993), many studies have shown cognitive and psychiatric impairments associated with HD significantly contribute to degree of functional impairment independent of motor impairments (Nehl, Paulsen, & Huntington Study Group, 2004). In particular, impairments in executive function have been associated with worsened activities of daily living (Hamilton et al., 2003). Additionally, greater degree of overall cognitive impairment has also been shown to predict rate of functional decline, such that those with greater cognitive impairment at study baseline show more rapid decline (Marder, et al., 2000). Such findings are consistent with the wider literature examining the important role of cognitive function in the ability to do daily tasks in normal aging as well as in Alzheimer disease (Benke et al., 2013; Martyr & Clare, 2012). Based on the finding that changes in everyday function can be observed in the prodromal stage of dementia – known as mild cognitive impairment (MCI) – it would be anticipated that functional changes likely accompany the very early cognitive changes occurring in prodromal HD. Indeed, recent research by our group demonstrates functional changes during the prodromal HD period (Downing et al., 2013; Paulsen et al., 2010). One obstacle to studying early functional changes in HD has been limitation of assessment methods. Instruments such as the TFC (Huntington Study Group, 1996) appear to be sensitive to changes following a motor diagnosis of HD (Marder et al., 2000) but may not have sufficient sensitivity to changes during prodromal HD (Downing et al., 2013; Paulsen et al., 2010). Further, given that cognitive impairments are among the very first signs of HD to emerge, there is a need for new functional assessment tools that specifically target cognitively-based functional abilities. Another issue relevant to measuring functional capacities in HD and prodromal HD is determining which method of ascertainment is most appropriate. Both companion and self-report of functional abilities have been used in HD and other populations. Due to the possibility of diminishing self-awareness as motor onset nears (Duff et al., 2010; Ho, Robbins, & Barker, 2006; Hoth et al., 2007), assessment from a companion may provide an important source of data. Discrepancies between participant and companion ratings in awareness of cognitive, behavioral and functional changes have been reported in those estimated to be closest to diagnosis (Downing et al., 2013; Duff et al., 2010). To address some of the gaps in knowledge about the nature of very early functional changes in prodromal HD, the present study examines self- and companion-rated everyday cognition in prodromal HD and compares ratings with the widely-used TFC. The four study aims were: (a) Compare the factor structure of the Everyday Cognition (ECog) scales (Farias et al., 2008) in a sample of people with prodromal HD to the factor structure of the original ECog using baseline data; (b) analyze baseline and longitudinal changes in participant and companion ratings of the ECog by disease progression groups; (c) compare participant and companion ratings over time in each disease progression group; and (d) assess the sensitivity of the ECog by comparison to the TFC for detecting change over the prodromal phase of HD. We hypothesized that the factor structure in the revised ECog would be similar to the original ECog. We anticipated that both participants and companions would report functional changes over time. However, we expected that companion ratings would diverge from participant ratings as participants become nearer to the time of diagnosis, owing to diminishing self-awareness in the participant group. Lastly, we expected that the ECog would be more sensitive than the TFC in detecting specific domains of daily cognitive function.

Summary Background Although the association between cytosine-adenine-guanine (CAG) repeat length and age at onset of Huntington's disease is well known, improved prediction of onset would be advantageous for clinical trial design and prognostic counselling. We compared various measures for tracking progression and predicting conversion to manifest Huntington's disease. Methods In this prospective observational study, we assessed the ability of 40 measures in five domains (motor, cognitive, psychiatric, functional, and imaging) to predict time to motor diagnosis of Huntington's disease, accounting for CAG repeat length, age, and the interaction of CAG repeat length and age. Eligible participants were individuals from the PREDICT-HD study (from 33 centres in six countries [USA, Canada, Germany, Australia, Spain, UK]) with the gene mutation for Huntington's disease but without a motor diagnosis (a rating below 4 on the diagnostic confidence level from the 15-item motor assessment of the Unified Huntington's Disease Rating Scale). Participants were followed up between September, 2002, and July, 2014. We used joint modelling of longitudinal and survival data to examine the extent to which baseline and change of measures analysed separately was predictive of CAG-adjusted age at motor diagnosis. Findings 1078 individuals with a CAG expansion were included in this analysis. Participants were followed up for a mean of 5·1 years (SD 3·3, range 0·0–12·0). 225 (21%) of these participants received a motor diagnosis of Huntington's disease during the study. 37 of 40 cross-sectional and longitudinal clinical and imaging measures were significant predictors of motor diagnosis beyond CAG repeat length and age. The strongest predictors were in the motor, imaging, and cognitive domains: an increase of one SD in total motor score (motor domain) increased the risk of a motor diagnosis by 3·07 times (95% CI 2·26–4·16), a reduction of one SD in putamen volume (imaging domain) increased risk by 3·32 times (2·37–4·65), and a reduction of one SD in Stroop word score (cognitive domain) increased risk by 2·32 times (1·88–2·87). Interpretation Prediction of diagnosis of Huntington's disease can be improved beyond that obtained by CAG repeat length and age alone. Such knowledge about potential predictors of manifest Huntington's disease should inform discussions about guidelines for diagnosis, prognosis, and counselling, and might be useful in guiding the selection of participants and outcome measures for clinical trials. Funding US National Institutes of Health, US National Institute of Neurological Disorders and Stroke, and CHDI Foundation.

Achieving equitable minority representation in genomic biobanking is one of the most difficult challenges faced by researchers today. Capacity building--a framework for research that includes collaborations and on-going engagement--can be used to help researchers, clinicians and communities better understand the process, utility, and clinical application of genomic science. The purpose of this exploratory descriptive study was to examine factors that influence the decision to participate in genomic research, and identify essential components of capacity building with a community at risk of being under-represented in biobanks. Results of focus groups conducted in Central Harlem with 46 participants were analyzed by a collaborative team of community and academic investigators using content analysis and AtlisTi. Key themes identified were: (1) the potential contribution of biobanking to individual and community health, for example the effect of the environment on health, (2) the societal context of the science, such as DNA criminal databases and paternity testing, that may affect the decision to participate, and (3) the researchers' commitment to community health as an outcome of capacity building. These key factors can contribute to achieving equity in biobank participation, and guide genetic specialists in biobank planning and implementation.

The views expressed in this article are tho organizations, institutions, government agen * Corresponding author: Janet K. Williams, 50 E-mail address: janet-williams@uiowa.ed 0029-6554/$ see front matter 2015 Elsevi http://dx.doi.org/10.1016/j.outlook.2014.08.00 Although genome sequencing using next-generation sequencing (NGS) has the potential to provide answers to clinical diagnosis and treatment questions (Atwal et al., 2014), there is limited evidence for many of these tests to guide clinical use. Genetic testing using NGS can yield a large amount of information, only some of which may be informative in answering the question for which the test was ordered and in some cases creates uncertainty and increased complexity of clinical care (Feero, 2014). These tests can be expensive, and the lack of evidence may influence whether thirdparty payers will cover the test cost. Regardless, genome sequencing using NGS (either whole genome sequencing [WGS] or whole exome sequencing [WES]) is beginning to be used clinically to identify causative variants in patients in whom several gene variants may result in similar clinical diseases. It is also used to

The past decade has witnessed an explosion of evidence suggesting that many neurodegenerative diseases can be detected years, if not decades, earlier than previously thought. To date, these scientific advances have not provoked any parallel translational or clinical improvements. There is an urgency to capitalize on this momentum so earlier detection of disease can be more readily translated into improved health-related quality of life for families at risk for, or suffering with, neurodegenerative diseases. In this review, we discuss health-related quality of life (HRQOL) measurement in neurodegenerative diseases and the importance of these “patient reported outcomes” for all clinical research. Next, we address HRQOL following early identification or predictive genetic testing in some neurodegenerative diseases: Huntington disease, Alzheimer's disease, Parkinson's disease, Dementia with Lewy bodies, frontotemporal dementia, amyotrophic lateral sclerosis, prion diseases, hereditary ataxias, Dentatorubral-pallidoluysian atrophy and Wilson's disease. After a brief report of available direct-to-consumer genetic tests, we address the juxtaposition of earlier disease identification with assumed reluctance toward predictive genetic testing. Forty-one studies examining health-related outcomes following predictive genetic testing for neurodegenerative disease suggested that (a) extreme or catastrophic outcomes are rare; (b) consequences commonly include transiently increased anxiety and/or depression; (c) most participants report no regret; (d) many persons report extensive benefits to receiving genetic information; and (e) stigmatization and discrimination for genetic diseases are poorly understood and policy and laws are needed. Caution is appropriate for earlier identification of neurodegenerative diseases but findings suggest further progress is safe, feasible and likely to advance clinical care.

Depression causes significant morbidity and mortality, and this also occurs in Huntington Disease (HD), an inherited neurodegenerative illness with motor, cognitive, and psychiatric symptoms. The presentation of depression in this population remains poorly understood, particularly in the prodromal period before development of significant motor symptoms. In this study, we assessed depressive symptoms in a sample of 803 individuals with the HD mutation in the prodromal stage and 223 mutation-negative participants at the time of entry in the Neurobiological Predictors of HD (PREDICT-HD) study. Clinical and biological HD variables potentially related to severity of depression were analyzed. A factor analysis was conducted to characterize the symptom domains of depression in a subset (n=168) with clinically significant depressive symptoms. Depressive symptoms were found to be more prevalent in HD mutation carriers but did not increase with proximity to HD diagnosis and were not associated with length of the HD mutation. Increased depressive symptoms were significantly associated with female gender, self-report of past history of depression, and a slight decrease in functioning, but not with time since genetic testing. The factor analysis identified symptom domains similar to prior studies in other populations. These results show that individuals with the HD mutation are at increased risk to develop depressive symptoms at any time during the HD prodrome. The clinical presentation appears to be similar to other populations. Severity and progression are not related to the HD mutation.

The purpose of this study was to identify helpfulness of strategies used by teens growing up in families with Huntington disease (HD). Forty-four participants responded to a mailed HD Family Survey-Teens Strategies. Strategies were those with strong positive correlation between use and perceived helpfulness, and those with negative or inverse relationships. Obtaining information, thinking about or doing something else, and actions on behalf of the parent with HD were rated as highest use and perceived helpfulness. Emotional suppression had high use but low helpfulness. Participants reported using numerous helpful strategies. Social support was often unavailable to help manage teen concerns.

The potential for genomic incidental findings is increasing with the use of genome-based testing. At the same time approaches to clinical decision making are shifting to shared decision-making models involving both the healthcare community and the public. The public's voice has been nearly absent in discussions on managing incidental findings. We conducted nine focus groups and nine interviews (n = 63) with a broad cross-section of lay public groups to elucidate public viewpoints on incidental findings that could occur as a result of genome-based testing in clinical and research situations. Data were analyzed using qualitative content analysis. Participants wanted incidental findings disclosed to them whether or not these were clinical or research findings. Participants used different terms to define and describe incidental findings; they wanted to know that incidental findings are possible and be given a choice to learn about them. Personal utility was an important reason for disclosure, and participants believed that managing information is a shared responsibility between professionals and themselves. Broad public input is needed in order to understand and incorporate the public's perspective on management of incidental findings as disclosure guidelines, and policies are developed in clinical and research settings.

Precision medicine envisions a future of effective diagnosis, treatment, and prevention grounded in precise understandings of the genetic and environmental determinants of disease. Given that the original genome-wide association studies represented a predominately European White population, and that diversity in genomic studies must account for genetic variation both within and across racial categories, new research studies are at a heightened risk for inadequate representation. Currently biological samples are being made available for sequencing in biobanks across the USA, but the diversity of those samples is unknown. The aims of this study were to describe the types of recruitment and enrollment materials used by US biobanks and the diversity of the samples contained within their collection. Biobank websites and brochures were evaluated for reading level, health literacy, and factors known to encourage the recruitment of minorities, such as showing pictures of diverse populations. Biobank managers were surveyed by mail on the methods and materials used for enrollment, recruitment, consent, and the self-reported race/ethnicity of biobank participants. From 51 US biobanks (68% response rate), recruitment and enrollment materials were in English only, and most of the websites and brochures exceeded a fifth-grade reading level. When compared to the 2015 US Census, self-reported race/ethnicity of participants was not significantly different for Whites (61%) and blacks (13%). The percentages were significantly lower for Hispanics and Latinos (18 vs. 7%, p=0.00) and Hawaiian/Pacific Islanders (0.2 vs. 0.01%; p=0.01) and higher for Asians (13 vs. 5%, p=0.01). Materials for recruitment predominantly in English may limit participation by underrepresented populations.

Implementation of genomic discoveries into health care optimally includes evaluation of outcomes for recipients of care, providers, payers, and health care systems. However, the influence of specific aspects of the implementation process on observed outcomes may be missed if assessment of implementation success is not built into the implementation design. The intersection of implementation science with genomics may provide new insights on how to maximize the benefits of emerging genomic technologies in health care. In this summary, members of the Roundtable on Genomics and Precision Health, formerly the Roundtable on Translating Genomic-Based Research for Health, of the National Academies of Sciences, Engineering, and Medicine and the American Academy of Nursing explore challenges and opportunities for nurses to participate in implementing genomic discoveries into their practice informed by the principles of implementation science. Implementation requires collaboration across disciplines. Nurses can take leadership roles in engaging key stakeholders in health care organizations, assuring that communications regarding implementation are consistent with genomic literacy for each group of stakeholders, and planning for evaluation of data to assess how each component of the implementation process affected the overall outcome for health care.

This bibliometric review profiles the focus, dissemination, and impact of genomic nursing science articles from 2010 to 2014.Data-based genomic nursing articles by nursing authors and articles by non-nurse principal investigators funded by the National Institute of Nursing Research were categorized into the Genomic Nursing Science Blueprint nursing areas.Bibliometric content analysis was used.A total of 197 articles met the inclusion criteria. Of these, 60.3% were on biologic plausibility, 12.1% on client self-management, 11.1% on decision making or decision support, 8.1% on family, and 4.0% on communication, with the remaining 4.0% of articles focused on other topics. Few (11.6%) addressed healthcare disparities in the study purpose. Thirty-four references (17.2%) were cited 10 or more times.Research-based genomic nursing science articles are in the discovery phase of inquiry. All topics were investigated in more than one country. Healthcare disparities were addressed in few studies. Research findings from interdisciplinary teams were disseminated beyond nursing audiences, with findings addressing biologic discovery, decision making or support, and family being cited most frequently. Gaps in the reviewed articles included cross-cutting themes, ethics, and clinical utility. Interdisciplinary research is needed to document clinical and system outcomes of genomic nursing science implementation in health care.Although the review identifies areas that are encountered in clinical practice, relevance to practice will depend on evaluation of findings and subsequent development of clinical guidelines.

Background Genomic discoveries in the era of precision medicine hold the promise for tailoring healthcare, symptom management, and research efforts including targeting rare and common diseases through the identification and implementation of genomic–based risk assessment, treatment, and management. However, the translation of these discoveries into tangible benefits for the health of individuals, families, and the public is evolving. Purpose In this article, members of the Genetics Expert Panel identify opportunities for action to increase advanced practice nursing and research contributions toward improving genomic health for all individuals and populations. Discussion Identified opportunities are within the areas of: bolstering genomic focused advanced practice registered nurse practice, research and education efforts; deriving new knowledge about disease biology, risk assessment, treatment efficacy, drug safety and self-management; improving resources and systems that combine genomic information with other healthcare data; and advocating for patient and family benefits and equitable access to genomic healthcare resources.

Huntington disease (HD) is a neurodegenerative disorder that involves preferential atrophy in the striatal complex and related subcortical nuclei. In this article, which is based on a dataset extracted from the PREDICT-HD study, we use statistical shape analysis with deformation markers obtained through "Large Deformation Diffeomorphic Metric Mapping" of cortical surfaces to highlight specific atrophy patterns in the caudate, putamen, and globus pallidus, at different prodromal stages of the disease. On the basis of the relation to cortico-basal ganglia circuitry, we propose that statistical shape analysis, along with other structural and functional imaging studies, may help expand our understanding of the brain circuitry affected and other aspects of the neurobiology of HD, and also guide the most effective strategies for intervention.

Aims: Genomic research can produce findings unrelated to a study's aims. The purpose of this study was to examine researcher and Institutional Review Board (IRB) chair perspectives on genomic incidental findings (GIFs). Methods: Nineteen genomic researchers and 34 IRB chairs from 42 institutions participated in semi-structured telephone interviews. Researchers and chairs described GIFs within their respective roles. Few had direct experience with disclosure of GIFs. Researchers favored policies where a case by case determination regarding whether GIF disclosure would be offered after discovery, whereas IRB chairs preferred policies where procedures for disclosure would be determined prior to approval of the research. Conclusions: Researcher and IRB chair perspectives on management of GIFs overlap, but each group provides a unique perspective on decisions regarding disclosure of GIFs in research. Engagement of both groups is essential in efforts to provide guidance for researchers and IRBs regarding disclosure of GIFs in research.

Background Genomic research is challenging the tradition of informed consent. Genomic researchers in the USA, Canada and parts of Europe are encouraged to use informed consent to address the prospect of disclosing individual research results (IRRs) to study participants. In the USA, no national policy exists to direct this use of informed consent, and it is unclear how local institutional review boards (IRBs) may want researchers to respond. Objective and methods To explore publicly accessible IRB websites for guidance in this area, using summative content analysis. Findings Three types of research results were addressed in 45 informed consent templates and instructions from 20 IRBs based at centres conducting genomic research: (1) IRRs in general, (2) incidental findings (IFs) and (3) a broad and unspecified category of ‘significant new findings’ (SNFs). IRRs were more frequently referenced than IFs or SNFs. Most documents stated that access to IRRs would not be an option for research participants. These non-disclosure statements were found to coexist in some documents with statements that SNFs would be disclosed to participants if related to their willingness to participate in research. The median readability of template language on IRRs, IFs and SNFs exceeded a ninth-grade level. Conclusion IRB guidance may downplay the possibility of IFs and contain conflicting messages on IRR non-disclosure and SNF disclosure. IRBs may need to clarify why separate IRR and SNF language should appear in the same consent document. The extent of these issues, nationally and internationally, needs to be determined.

It is unclear how genomic incidental finding (GIF) prospects should be addressed in informed consent processes. An exploratory study on this topic was conducted with 34 purposively sampled Chairs of institutional review boards (IRBs) at centers conducting genome-wide association studies. Most Chairs (96%) reported no knowledge of local IRB requirements regarding GIFs and informed consent. Chairs suggested consent processes should address the prospect of, and study disclosure policy on, GIFs; GIF management and follow-up; potential clinical significance of GIFs; potential risks of GIF disclosure; an opportunity for participants to opt out of GIF disclosure; and duration of the researcher's duty to disclose GIFs. Chairs were concerned about participant disclosure preferences changing over time; inherent limitations in determining the scope and accuracy of claims about GIFs; and making consent processes longer and more complex. IRB Chair and other stakeholder perspectives can help advance informed consent efforts to accommodate GIF prospects.

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.

Aims: A family history of Huntington disease (HD) or receiving results of HD predictive genetic testing can influence individual well-being, family relationships, and social interactions in positive and negative ways. The aim of this study was to examine benefits reported by people with an HD family history or those who have undergone predictive HD testing, as well as the personal variables associated with perceived benefits. Methods: Seventy-four of 433 people completing the International Response of a Sample Population to HD risk (I-RESPOND-HD) survey reported benefits. Knowledge and understanding was perceived as the most common benefit from participants in both groups. The next most frequent perceived benefits from a family history were connecting with others and achieving life meaning and insights. The next most common perceived benefits from genetic testing were life planning and social support. The least common perceived benefit for both groups was renewed hope and optimism. Older age and spirituality were significantly associated with benefits in both groups. Conclusions: Perceptions of benefit may not be as likely until later years in people with prodromal HD. A developed sense of spirituality is identified as a personal resource associated with the perception of benefit from genetic testing for HD. Associations among spirituality, perceived benefits, and other indicators of personal and family well-being may be useful in genetic counseling and health care of people with prodromal HD.

Health concerns and management strategies among families of young and middle-age adults with Huntington’s disease (HD) are unknown. This study developed and tested psychometric properties of the Huntington Disease Family Concerns and Strategies Survey (HDFCSS). Focus group data from 91 adult family members were used to develop content. Content analysis yielded four domains that were transferred into Personal, Person With HD, Community Health Care Services, and Strategies scales. Focus group data, expert validation, and cognitive interviews demonstrated survey content validity. Cronbach’s alpha internal consistency coefficients for the scales were 0.83 or above. The measure can be used to generate reliable and valid data to identify adult family members’ health-related concerns and management strategies for themselves and persons with HD.

People who have tested positive for the expanded Huntington disease (HD) gene who are not yet diagnosed (pre-HD) and their companions report subtle changes in ability of people with pre-HD to do their jobs. However, it is not known whether they attribute these changes to HD. Semi-structured telephone interviews were analyzed from seven persons with pre-HD at different estimated points from diagnosis and six companions. Data were analyzed using qualitative analysis methods. Participants made attributions related to health, work, and temperament. Only one participant attributed a change to HD. The process of forming attributions was demonstrated through symptom monitoring and comparison of participants with pre-HD to others with and without HD. Participants also expressed uncertainty regarding how to make attributions. Attributions influence coping procedures, including whether to seek and accept medical treatment. In persons with prodromal HD the relationship between attributions and use of coping strategies for symptoms that interfere with job functioning is unknown.

Nurses are well positioned to incorporate genetic and genomic information across all aspects of the United States (U.S.) health care system. Nurses, the most trusted health professionals [1], make unique contributions to the field of human genetics and genomics and complement the work of other health care providers to improve the health of the public. Health care benefits greatly from the unprecedented and ongoing work elucidating the genetic/genomic basis of health, illness, disease risk, and treatment response. The progress in genetics and genomics is applicable to the entire spectrum of health care and all health professionals and as such to the entire nursing profession (2.9 million) [2] in the United States regardless of role, clinical specialty, or academic preparation. The majority of disease risk, health conditions and the therapies used to treat those conditions have a genetic and/or genomic element influenced by environmental, lifestyle, and other factors therefore impacting the entire nursing profession [3]. Nurses have intimate knowledge of the patient’s, family’s, and community’s perspectives; an understanding of biologic underpinnings; experience with genetic/genomic technologies and information; skills in communication and building coalitions; and most importantly, the public’s trust. Across the lifespan, nursing focuses on health promotion and disease prevention, which is an integral component of genetic/genomic health care practices. Awareness of nurses’ strengths and skills, together with the recognition that prevention is the hallmark of genetic/genomic health care, will inform public policymaking groups as they address issues that affect heath care practice in the area of genetics/genomics. Policy making process will be informed with new insights will be gained with inclusion of nurses and professional nursing organizations. These policies can facilitate the ability of U.S. health care systems to use genetic/genomic knowledge to promote health and manage disease.

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

Focus group research reflects content contributed by participants and the influence of interactions among participants. Analysis of interactions provides insights into focus group dynamics and the contextual meaning of focus group topics. The aim of this report is to analyse interactions that establish or protect a common ground in focus groups of family members caring for adults with Huntington disease (HD). HD tends to stigmatise persons with the disease, as well as their families. Thus, many of the topics in these groups were sensitive. Establishing a common ground was of paramount importance to group members. Participants used interactional processes that combined validations and challenges across assertions of knowledge or expertise, and disclosure of personally painful or socially sanctioned thoughts or feelings. Participants couched their contributions in ways that established similarity with others and when disagreements arose, group members developed processes to sustain their common ground. These behaviours served to facilitate group solidarity and may have influenced the information provided by group members. Awareness of interactions to facilitate maintenance of a common ground allows leaders to recognise the importance of such interactions for the group's functioning, and provides insights for researchers into meanings of focus group findings.

Purpose Teens with Type 1 diabetes and their parents experience every day and illness-related stress; however, understanding of how these stressors relate to the transition to adulthood is limited. The purpose of this study was to identify stressors of teens with Type 1 diabetes (T1DM) and their parents related to the impending transition to adulthood. Design and Methods This study used open-ended questions to identify every day and illness-related stressors among 15 teens with T1DM and 25 parents seen in one pediatric diabetes clinic. Qualitative descriptive analysis identified themes in interview transcripts. Results The primary teen stressor related to impending transition centered on ineffective self-management, often when they were taking over responsibility for T1DM management. Parents' concerns included immediate and long-term negative outcomes of teen self-management as well as financial resources and health insurance for the teen. Teens and parents both expressed specific concerns about outcomes and prevention of nocturnal hypoglycemia, and identified uncertainties related to teen health and diabetes-focused health care when no longer living in the parent's home. Conclusions Teens with Type 1 diabetes and their parents understand that independent teen self-management is a component of transition to adulthood, but worry about teen self-management outcomes. Concerns specific to health care transition included health insurance, T1DM resources, and teens' abilities to handle new situations. Practice Implications Identifying current and future self-management concerns of individuals and families can facilitate targeted education and interventions to support successful transition to adulthood.

Purpose: To describe characteristics and professional roles of genetics nurses in advanced practice. Design: A cross-sectional descriptive survey administered in 2004 as one component of a comprehensive study of genetic services and the health workforce. The sample was 211 U.S. members of the International Society of Nurses in Genetics. Methods: The survey included demographic characteristics, education, credentials, professional roles, and attitudes about genetic healthcare issues. Findings: The majority of respondents had master's degrees and many had earned doctorates in nursing (20%) or other fields (12%). Thirty-one percent were certified as nurse practitioners; 57% provided direct patient care, with the largest percentage working in genetics (26%) or oncology (22%) settings. Over one-third were educators and 19% conducted genome-related research. Conclusions: Genetics nurses in advanced practice in the US focus on both genomic discoveries and clinical health care through the application of genomic knowledge into health care, research, and nursing education.

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.

Aim: Clinical and research applications from human genome discoveries are growing and creating both opportunities and challenges to the integration of genetic concepts into practice and research. Nurses have a long history of caring for individuals, families, and groups with genetic conditions. In the past two decades, a small group of nurses in the USA have used a variety of strategies to further develop the field of genetics nursing. In this paper we identify innovative approaches to identifying genetics-related nursing roles and opportunities, as well as successful collaborative efforts beyond nursing to address the emerging health and societal challenges related to human genetics discoveries. Methods: The information presented here comes from a variety of sources where the authors or genetics nurses directly participated, including: (i) a systematic literature review of genetics nursing; (ii) a comprehensive research study of models of delivering clinical genetics services and the roles of health professionals; and (iii) participation in numerous national research, planning, programmatic, and advisory groups involved with clinical genetics-related health services, research, education, and public policy. Results: Genetics nurses in the US have developed innovative responses to genetics-related challenges within and beyond the profession of nursing. These include: (i) establishing an organization for nurses in genetics and gaining formal recognition of genetics as a specialty of nursing; (ii) defining the scope of genetics nursing practice and developing a new genetics nursing credential; (iii) establishing a multiprofessional genetics education coalition and defining genetic competency for health-care practice; (iv) creating new clinical practice roles for nurses that integrate emerging genetics concepts and skills into diverse clinical practice areas; (v) expanding nursing involvement in genetics-related research; and (vi) participation in high-level genetics advisory groups. Conclusions: The US experience shows that nurses have made substantial progress in expanding their involvement in genetic services through visionary leadership, innovative approaches to challenges, establishing support with nurse colleagues, and engaging in multiprofessional efforts. The most important first step is developing a supportive environment for nurse advancement. In the US, the genetics nurses’ organization known as the International Society of Nurses in Genetics (ISONG) has provided this base.