Optimizing efficiency and skill utilization: Analysis of genetic counselors' attitudes regarding delegation in a clinical setting.

This study assessed genetic counselors' (GCs) perceptions of delegation as a tool to increase workforce efficiency and help meet the current gap between the number of genetic service providers and the number of patients. GCs were recruited to participate via an online survey that assessed activities (categorized as typical genetic counseling, administrative, or professional development) performed by a clinical genetic counselor. Respondents indicated which activities represent their largest time consumers, their willingness to delegate these activities, and barriers to and perceived outcomes of delegation. Overall, respondents indicated that they spend 25% of their time performing administrative activities that they would largely be willing to delegate; however, respondents were generally unwilling to delegate many typical genetic counseling and professional development activities, citing concerns regarding accuracy and liability, and highlighting the belief that these activities constitute the core role of a genetic counselor. Respondents indicated that delegation of time-consuming administrative activities would increase access to genetic services and improve job satisfaction. Additionally, differences were identified among clinical specialties regarding which activities were selected as top time consumers, indicating that potential targets of re-allocation of time or delegation may be variable. This research indicates a need to reduce the number of administrative tasks in which GCs are directly involved to re-allocate time toward core responsibilities, direct patient care, and professional development, the result of which is more efficient use of the GC skill-set.

Genetic Counseling Assistants: an Integral Piece of the Evolving Genetic Counseling Service Delivery Model.

This study explores the potential impact of the genetic counseling assistant (GCA) position on the efficiency of the genetic counseling field, evaluates attitudes regarding expansion of the genetic counseling field to include the GCA, and presents data on GCA endeavors and GCA job tasks as reported by GCAs, certified genetic counselors (CGCs), and program directors (PDs). Data on GCA roles and attitudes toward different aspects of the GCA position were collected via surveys of CGCs who have worked with GCAs, PDs who have and have not had experience with GCAs in their programs, and GCAs. We analyzed responses from 63 individuals: 27 PDs, 22 CGCs, and 14 GCAs. GCAs' impact on efficiency was calculated via internal analysis of genetic patient volume per genetic counselor within the University of Texas Southwestern (UTSW) patient database prior to, and since the addition of, a GCA to the practice. The response rates for PDs, CGCs, and GCAs were 27 %, 79 %, and 61 %, respectively. Every CGC stated the GCA increased their efficiency. CGCs with a GCA reported a 60 % average increase in patient volume. This figure was congruent with internal data from the UTSW cancer genetics program (58.5 % increase). Appropriate responsibilities for GCAs as reported by CGCs and PDs (>90 %) include: data entry, shipping tests, administrative tasks, research, and ordering supplies. Regarding GCAs delivering test results, there was response variation whether this should be a job duty: 42 % of CGCs agreed to GCAs delivering negative results to patients, compared to 22 % of program directors. Twenty-two percent of PDs expressed concern about the job title "Genetic Counseling Assistant." Ninety percent of CGCs felt that GCA was a career path to becoming a CGC, compared to 42 % of PDs. Eighty-three percent of GCAs who decided to apply to CGC graduate programs were accepted. We conclude the addition of a GCA to a genetic counseling practice contributes to increased efficiency and is one way to expand the reach of the profession.

To stay or to go? Postretirement housing choices of single Baby Boomer women.

Single women of the Baby Boomer generation are often financially disadvantaged in the retirement planning process due to their lower accumulated savings compared to male retirees. This disadvantage impacts significant consumption decisions such as postretirement housing choices. This study uses the theory of planned behavior to examine how certainty in intentions influences preparing and planning for postretirement housing. A typology of single Baby Boomer women is developed based on their financial, demographic, and psychological circumstances. Each segment likely requires different informational strategies and financial services to foster proactive planning for retirement. Significant implications exist for social policy and the financial services sector.

The integration of next-generation sequencing panels in the clinical cancer genetics practice: an institutional experience.

PURPOSE: The advent of next-generation sequencing for cancer susceptibility genes holds promise for clinical genetics application, but the practical issues surrounding integration of this testing into the clinical setting have not been well addressed. This article describes the clinical experience of genetic counselors in an academic and community setting with next-generation sequencing cancer panels. METHODS: Between April 2012 and January 2013, 60 next-generation sequencing panels were ordered. A retrospective review was conducted to determine the indication for ordering the results of the tests and the patient management based on the results. RESULTS: Ten tests were canceled due to out-of-pocket costs or previously identified mutations. Among the 50 tests, 5 (10%) showed a positive result. Moreover, 15 of the 50 (30%) panels detected variant(s) of uncertain significance or variant(s) suspected benign. CONCLUSION: We propose clinical guidelines for identifying high-risk patients who should be offered this testing. Our data support the National Comprehensive Cancer Network recommendations that next-generation sequencing be ordered as a second-tier test for high-risk individuals with cancer by trained cancer genetics providers. Literature review and expert knowledge should be used to create management plans for the identification of both positive and variants of uncertain significance results. Providers should be aware of limitations regarding reimbursement for testing and recommended management strategies.

An internal performance assessment of CancerGene Connect: an electronic tool to streamline, measure and improve the genetic counseling process.

CancerGene Connect (CGC) is a web-based program that combines the collection of family and medical history, cancer risk assessment, psychosocial assessment, report templates, a result tracking system, and a patient follow up system. The performance of CGC was assessed in several ways: pre-appointment completion data analyzed for demographic and health variables; a time study to assess overall time per case and to compare the data entry by the genetic counselor compared to the patient, and a measured quality assessment of the program via observation and interview of patients. Prior to their appointment, 52.3% of 2,414 patients completed the online patient questionnaire section of CGC. There were significant differences in completion rates among racial and ethnic groups. County hospital patients were less likely to complete the questionnaire than insured patients (p < 0.0001); and likewise uninsured patients and patients with Medicare/Medicaid were less likely to complete the questionnaire than private patients (p < 0.0001). The average genetic counseling time per case was 82 min, with no significant differences whether the counselor or the patient completed CGC. CGC reduces genetic counselor time by approximately 14-46% compared to average time per case using traditional risk assessment and documentation methods previously reported. All surveyed users felt the questionnaire was easy to understand. CGC is an effective tool that streamlines workflow, and provides a standardized data collection tool that can be used to evaluate and improve the genetic counseling process.

State of inertia: psychological preparation of single Australian and UK baby boomer women for retirement housing change.

The transition into retirement is an important life phase that presents significant challenges in respect to well-being, lifestyle, and consumption choices. This article examines the consumption context of housing after retirement, in particular for the low-resourced cohort of single baby boomer women. Utilizing an extended Theory of Planned Behavior model, we examine the relationship between intention and actual behavior, in this case financial advice seeking, as an important component of the psychological preparedness of single female baby boomer women. Our analysis showed both Australian and UK single baby boomer women display different behaviors in terms of seeking advice and their mental preparedness to adjust to a change in their living arrangements. The findings are discussed in terms of their implications for policy and further research.

Hyperoxia synergizes with mutant bone morphogenic protein receptor 2 to cause metabolic stress, oxidant injury, and pulmonary hypertension.

Pulmonary arterial hypertension (PAH) has been associated with a number of different but interrelated pathogenic mechanisms. Metabolic and oxidative stresses have been shown to play important pathogenic roles in a variety of model systems. However, many of these relationships remain at the level of association. We sought to establish a direct role for metabolic stress and oxidant injury in the pathogenesis of PAH. Mice that universally express a disease-causing mutation in bone morphogenic protein receptor 2 (Bmpr2) were exposed to room air or to brief daily hyperoxia (95% oxygen for 3 h) for 6 weeks, and were compared with wild-type animals undergoing identical exposures. In both murine tissues and cultured endothelial cells, the expression of mutant Bmpr2 was sufficient to cause oxidant injury that was particularly pronounced in mitochondrial membranes. With the enhancement of mitochondrial generation of reactive oxygen species by hyperoxia, oxidant injury was substantially enhanced in mitochondrial membranes, even in tissues distant from the lung. Hyperoxia, despite its vasodilatory actions in the pulmonary circulation, significantly worsened the PAH phenotype (elevated right ventricular systolic pressure, decreased cardiac output, and increased pulmonary vascular occlusion) in Bmpr2 mutant animals. These experiments demonstrate that oxidant injury and metabolic stress contribute directly to disease development, and provide further evidence for PAH as a systemic disease with life-limiting cardiopulmonary manifestations.

Implementation of routine screening for Lynch syndrome in university and safety-net health system settings: successes and challenges.

PURPOSE: Routine screening for evidence of DNA mismatch repair abnormalities can identify colorectal cancer patients with Lynch syndrome, but impact in usual care settings requires study. After implementing routine screening at our university and safety-net health systems as usual practice, our aims were to determine outcomes, including screening process quality. METHODS: We conducted a retrospective cohort study from 1 May 2010 to 1 May 2011. Screening included reflexive immunohistochemistry to evaluate DNA mismatch repair protein expression for patients with colorectal cancer aged ≤70 years, with a cancer genetics team following up results. Screening outcomes, as well as challenges to a high-quality screening process were evaluated. RESULTS: We included 129 patients (mean age 56 years, 36% female); 100 had immunohistochemistry screening completed. Twelve patients had abnormal immunohistochemistry: four with definite Lynch syndrome, four with probable Lynch syndrome, and three without Lynch syndrome; one patient had an incomplete work-up. Lynch syndrome was confirmed for 6/13 asymptomatic relatives tested. Screening process quality was optimal for 77.5% of patients. Barriers to optimal quality screening included ensuring reflexive immunohistochemistry completion, complete follow-up of abnormal immunohistochemistry, and timely incorporation of results into clinical decision making. CONCLUSION: Usual care implementation of routine screening for Lynch syndrome can result in significant rates of detection, even in a largely safety-net setting. To optimize implementation, challenges to high-quality Lynch syndrome screening, such as ensuring reflexive screening completion and clinically indicated genetic testing and follow-up for abnormal screens, must be identified and addressed.

A randomized controlled trial of an HIV/AIDS Symptom Management Manual for depressive symptoms.

Abstract Depressive symptoms are highly prevalent, underdiagnosed, and undertreated in people living with HIV/AIDS (PLWH), and are associated with poorer health outcomes. This randomized controlled trial examined the effects of the HIV/AIDS Symptom Management Manual self-care symptom management strategies compared with a nutrition manual on depressive symptoms in an international sample of PLWH. The sample consisted of a sub-group (N=222) of participants in a larger study symptom management study who reported depressive symptoms. Depressive symptoms of the intervention (n=124) and control (n=98) groups were compared over three months: baseline, one-month, and two-months. Use and effectiveness of specific strategies were examined. Depressive symptom frequency at baseline varied significantly by country (χ (2) 12.9; p=0.04). Within the intervention group there were significant differences across time in depressive symptom frequency [F(2, 207) = 3.27, p=0.05], intensity [F(2, 91) = 4.6, p=0.01], and impact [F(2, 252) = 2.92, p= 0.05), and these were significantly lower at one month but not at two months, suggesting that self-care strategies are effective in reducing depressive symptoms, however effects may be short term. Most used and most effective self-care strategies were distraction techniques and prayer. This study suggests that people living with HIV can be taught and will employ self-care strategies for management of depressive symptoms and that these strategies are effective in reducing these symptoms. Self-care strategies are noninvasive, have no side-effects, and can be readily taught as an adjunct to other forms of treatment. Studies are needed to identify the most effective self-care strategies and quantify optimum dose and frequency of use as a basis for evidence-based practice.

Cytoskeletal defects in Bmpr2-associated pulmonary arterial hypertension.

The heritable form of pulmonary arterial hypertension (PAH) is typically caused by a mutation in bone morphogenic protein receptor type 2 (BMPR2), and mice expressing Bmpr2 mutations develop PAH with features similar to human disease. BMPR2 is known to interact with the cytoskeleton, and human array studies in PAH patients confirm alterations in cytoskeletal pathways. The goal of this study was to evaluate cytoskeletal defects in BMPR2-associated PAH. Expression arrays on our Bmpr2 mutant mouse lungs revealed cytoskeletal defects as a prominent molecular consequence of universal expression of a Bmpr2 mutation (Rosa26-Bmpr2(R899X)). Pulmonary microvascular endothelial cells cultured from these mice have histological and functional cytoskeletal defects. Stable transfection of different BMPR2 mutations into pulmonary microvascular endothelial cells revealed that cytoskeletal defects are common to multiple BMPR2 mutations and are associated with activation of the Rho GTPase, Rac1. Rac1 defects are corrected in cell culture and in vivo through administration of exogenous recombinant human angiotensin-converting enzyme 2 (rhACE2). rhACE2 reverses 77% of gene expression changes in Rosa26-Bmpr2(R899X) transgenic mice, in particular, correcting defects in cytoskeletal function. Administration of rhACE2 to Rosa26-Bmpr2(R899X) mice with established PAH normalizes pulmonary pressures. Together, these findings suggest that cytoskeletal function is central to the development of BMPR2-associated PAH and that intervention against cytoskeletal defects may reverse established disease.

The clinical consequences of hemizygosity across 2 MB of 10q23 are restricted to Cowden syndrome.

Cowden syndrome is caused by germline mutations in PTEN and clinically characterized by hamartomas, macrocephaly, classic dermatologic stigmata, and an estimated 85 % lifetime risk of female breast cancer. A young woman with macrocephaly, tricholemmomas, AV malformations, and mammary papillomatosis was found to be hemizygous for PTEN in her germline DNA. Using MLPA, comparative genomic hybridization, and DNA sequencing, we identified a 2-Mb deletion in chromosome 10 spanning 344-kb centromeric and 1.7-Mb telomeric of PTEN. Her father who has a clinical history including macrocephaly, Hashimoto's thyroiditis, colonic polyposis, acral keratoses, and goiter was also found to have the same deletion. In benign breast tissue from the hemizygous female, PTEN protein expression was significantly reduced in luminal and stromal cells but present in the myoepithelium. Compared with a typical papilloma of the breast which had intense cytoplasmic PTEN staining, the majority of the patient's papilloma had significantly decreased PTEN expression while some cells had mislocalized perinuclear PTEN expression. In addition to PTEN, 22 other protein-coding genes were deleted including two predicted haploinsufficient genes and five additional genes that have previously been associated with hereditary predispositions to certain diseases. However, because all significant clinical features of the proband and her father are common to patients with genetic alterations in PTEN, the other 22 hemizygous protein-coding genes appear to be haplosufficient.

Unhealthy substance-use behaviors as symptom-related self-care in persons with HIV/AIDS.

Unhealthy substance-use behaviors, including a heavy alcohol intake, illicit drug use, and cigarette smoking, are engaged in by many HIV-positive individuals, often as a way to manage their disease-related symptoms. This study, based on data from a larger randomized controlled trial of an HIV/AIDS symptom management manual, examines the prevalence and characteristics of unhealthy behaviors in relation to HIV/AIDS symptoms. The mean age of the sample (n = 775) was 42.8 years and 38.5% of the sample was female. The mean number of years living with HIV was 9.1 years. The specific self-reported unhealthy substance-use behaviors were the use of marijuana, cigarettes, a large amount of alcohol, and illicit drugs. A subset of individuals who identified high levels of specific symptoms also reported significantly higher substance-use behaviors, including amphetamine and injection drug use, heavy alcohol use, cigarette smoking, and marijuana use. The implications for clinical practice include the assessment of self-care behaviors, screening for substance abuse, and education of persons regarding the self-management of HIV.

Loss of murine TDP-43 disrupts motor function and plays an essential role in embryogenesis.

Abnormal TDP-43 aggregation is a prominent feature in the neuropathology of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration. Mutations in TARDBP, the gene encoding TDP-43, cause some cases of ALS. The normal function of TDP-43 remains incompletely understood. To better understand TDP-43 biology, we generated mutant mice carrying a genetrap disruption of Tardbp. Mice homozygous for loss of TDP-43 are not viable. TDP-43 deficient embryos die about day 7.5 of embryonic development thereby demonstrating that TDP-43 protein is essential for normal prenatal development and survival. However, heterozygous Tardbp mutant mice exhibit signs of motor disturbance and muscle weakness. Compared with wild type control littermates, Tardbp (+/-) animals have significantly decreased forelimb grip strength and display deficits in a standard inverted grid test despite no evidence of pathologic changes in motor neurons. Thus, TDP-43 is essential for viability, and mild reduction in TDP-43 function is sufficient to cause motor deficits without degeneration of motor neurons.

Prevalence, self-care behaviors, and self-care activities for peripheral neuropathy symptoms of HIV/AIDS.

As part of a larger randomized controlled trial examining the efficacy of an HIV/AIDS symptom management manual (n = 775), this study examined the prevalence of peripheral neuropathy in HIV-infected individuals at 12 sites in the USA, Puerto Rico, and Africa. Neuropathy was reported by 44% of the sample; however, only 29.4% reported initiating self-care behaviors to address the neuropathy symptoms. Antiretroviral therapy was found to increase the frequency of neuropathy symptoms, with an increased mean intensity of 28%. A principal axis factor analysis with Promax rotation was used to assess the relationships in the frequency of use of the 18 self-care activities for neuropathy, revealing three distinct factors: (i) an interactive self-care factor; (ii) a complementary medicine factor; and (iii) a third factor consisting of the negative health items of smoking, alcohol, and street drugs. The study's results suggest that peripheral neuropathy is a common symptom and the presence of neuropathy is associated with self-care behaviors to ameliorate HIV symptoms. The implications for nursing practice include the assessment and evaluation of nursing interventions related to management strategies for neuropathy.

Violence against nurses working in US emergency departments.

UNLABELLED: The objective of this study was to investigate emergency nurses experiences and perceptions of violence from patients and visitors in US emergency departments (EDs). BACKGROUND: The ED is a particularly vulnerable setting for workplace violence, and because of a lack of standardized measurement and reporting mechanisms for violence in healthcare settings, data are scarce. METHODS: Registered nurses members (n=3,465) of the Emergency Nurses Association participated in this cross-sectional study by completing a 69-item survey. RESULTS: Approximately 25% of respondents reported experiencing physical violence more than 20 times in the past 3 years, and almost 20% reported experiencing verbal abuse more than 200 times during the same period. Respondents who experienced frequent physical violence and/or frequent verbal abuse indicated fear of retaliation and lack of support from hospital administration and ED management as barriers to reporting workplace violence. CONCLUSION: Violence against ED nurses in highly prevalent. Precipitating factors to violent incidents identified by respondents is consistent with the research literature; however, there is considerable potential to mitigate these factors. Commitment from hospital administrators, ED managers, and hospitals security is necessary to facilitate improvement and ensure a safer workplace for ED nurses.

Does "asymptomatic" mean without symptoms for those living with HIV infection?

Throughout the history of the HIV epidemic, HIV-positive patients with relatively high CD4 counts and no clinical features of opportunistic infections have been classified as "asymptomatic" by definition and treatment guidelines. This classification, however, does not take into consideration the array of symptoms that an HIV-positive person can experience long before progressing to AIDS. This short report describes two international multi-site studies conducted in 2003-2005 and 2005-2007. The results from the studies show that HIV-positive people may experience symptoms throughout the trajectory of their disease, regardless of CD4 count or classification. Providers should discuss symptoms and symptom management with their clients at all stages of the disease.

Violence against nurses working in US emergency departments.

OBJECTIVE: The objective of this study was to investigate emergency nurses' experiences and perceptions of violence from patients and visitors in US emergency departments (EDs). BACKGROUND: The ED is a particularly vulnerable setting for workplace violence, and because of a lack of standardized measurement and reporting mechanisms for violence in healthcare settings, data are scarce. METHODS: Registered nurse members (n = 3,465) of the Emergency Nurses Association participated in this cross-sectional study by completing a 69-item survey. RESULTS: Approximately 25% of respondents reported experiencing physical violence more than 20 times in the past 3 years, and almost 20% reported experiencing verbal abuse more than 200 times during the same period. Respondents who experienced frequent physical violence and/or frequent verbal abuse indicated fear of retaliation and lack of support from hospital administration and ED management as barriers to reporting workplace violence. CONCLUSION: Violence against ED nurses is highly prevalent. Precipitating factors to violent incidents identified by respondents is consistent with the research literature; however, there is considerable potential to mitigate these factors. Commitment from hospital administrators, ED managers, and hospital security is necessary to facilitate improvement and ensure a safer workplace for ED nurses.

Marijuana effectiveness as an HIV self-care strategy.

Persons living with HIV/AIDS use self-care for symptom management. This study assesses the use of marijuana as a symptom management approach for six common symptoms for persons living with HIV/AIDS--anxiety, depression, fatigue, diarrhea, nausea, and peripheral neuropathy. This sub-analysis of the efficacy of a symptom management manual encompasses the experiences of participants from sites in the U.S., Africa, and Puerto Rico. Baseline data are analyzed to examine differences in the use and efficacy of marijuana as compared with prescribed and over-the-counter medications as well as the impact on adherence and quality of life.

Screening for Lynch Syndrome by Immunohistochemistry of Mismatch Repair Proteins: Significance of Indeterminate Result and Correlation With Mutational Studies.

CONTEXT.­: Immunohistochemical expression of mismatch repair (MMR) protein is a well-accepted method for routine screening for Lynch syndrome with relatively high sensitivity and specificity. Occasionally, however, immunohistochemistry (IHC) can yield an equivocal result with poor reproducibility and the potential for misdiagnosis. OBJECTIVE.­: To determine the frequency and significance of indeterminate MMR IHC expression in patients routinely screened for Lynch syndrome and correlation with germline mutation studies. DESIGN.­: Semiquantitative scoring of MMR IHC was performed by image analysis in 479 cases, of which 380 were colorectal and 99 endometrial cancer. Scores of 10% or more, less than 10%, and 0% were used as cutoffs for retained, indeterminate, and loss of expression, respectively. Negative and indeterminate IHC results were confirmed by mutational studies. RESULTS.­: Four hundred eighteen of 479 cases (87.2%) were reported as retained expression, 45 (9.3%) as loss of expression, and 16 (3.3%) as indeterminate expression. Fifteen of 45 (33.3%) and 8 of 16 (50%) with loss and indeterminate expression, respectively, were found to have Lynch syndrome by germline studies. The overall frequency of Lynch syndrome in our patient population was 4.8% (23 of 479), and 34.7% of these (8 of 23) were associated with indeterminate IHC expression. In the indeterminate group, MLH1 germline mutation was the most frequent (6 of 13; 46.2%), followed by MSH6 (4 of 13; 30.7%). CONCLUSIONS.­: Our findings provide further evidence that indeterminate IHC should be further investigated for possible MMR germline mutation. Guidelines for interpretation of MMR IHC and the establishment of more objective criteria for defining indeterminate results are important to improve the sensitivity and specificity of the IHC assay.

Activity of the poly(A) binding protein MSUT2 determines susceptibility to pathological tau in the mammalian brain.

Brain lesions composed of pathological tau help to drive neurodegeneration in Alzheimer's disease (AD) and related tauopathies. Here, we identified the mammalian suppressor of tauopathy 2 (MSUT2) gene as a modifier of susceptibility to tau toxicity in two mouse models of tauopathy. Transgenic PS19 mice overexpressing tau, a model of AD, and lacking the Msut2 gene exhibited decreased learning and memory deficits, reduced neurodegeneration, and reduced accumulation of pathological tau compared to PS19 tau transgenic mice expressing Msut2 Conversely, Msut2 overexpression in 4RTauTg2652 tau transgenic mice increased pathological tau deposition and promoted the neuroinflammatory response to pathological tau. MSUT2 is a poly(A) RNA binding protein that antagonizes the canonical nuclear poly(A) binding protein PABPN1. In individuals with AD, MSUT2 abundance in postmortem brain tissue predicted an earlier age of disease onset. Postmortem AD brain tissue samples with normal amounts of MSUT2 showed elevated neuroinflammation associated with tau pathology. We observed co-depletion of MSUT2 and PABPN1 in postmortem brain samples from a subset of AD cases with higher tau burden and increased neuronal loss. This suggested that MSUT2 and PABPN1 may act together in a macromolecular complex bound to poly(A) RNA. Although MSUT2 and PABPN1 had opposing effects on both tau aggregation and poly(A) RNA tail length, we found that increased poly(A) tail length did not ameliorate tauopathy, implicating other functions of the MSUT2/PABPN1 complex in tau proteostasis. Our findings implicate poly(A) RNA binding proteins both as modulators of pathological tau toxicity in AD and as potential molecular targets for interventions to slow neurodegeneration in tauopathies.