Genetic variants with discordant classifications: An assessment of genetic counselor attitudes and practices.

Discordant variant classifications (DVCs) can impact patient care and pose challenges for clinicians. A survey-based study was conducted to examine genetic counselor (GC) attitudes and practices related to DVCs. Most GCs (202/229, 88%) in the study provide direct patient care across clinical specialties; review patients' genetic test results to determine if reported genetic variants have DVCs (176/202, 88%); and inform patients of known DVCs that impact medical management (165/202, 82%). DVC review, which takes 41 min (range: 5-240) on average per week, is typically prompted by the identification of a variant of uncertain significance (VUS) (160/176, 90%) and is primarily conducted using public databases (176/176, 100%). While most GCs felt it would not be ethical to knowingly provide different medical management recommendations to patients with the same genetic variant (152/229, 66%), they also stated they would rely on the variant classification on the test report (141/229, 61%) and/or the patient's personal/family history (188/229, 82%) to determine which classification to follow if a DVC is identified. Both factors are patient-specific and, inherently, could lead to differing recommendations. When posed with a hypothetical scenario in which two patients have the same genetic variant, but test reports show a DVC (pathogenic vs VUS), most GCs (179/229, 78.2%) stated they would make the same recommendation for both patients regardless of management guidelines. One-third (52/179, 29.1%) cited patient-specific factors, such as personal/family history, would impact their recommendations. Disagreements about whether the pathogenic or VUS classification should be used to make medical management recommendations were noted. Differing practices and opinions on how to manage patients with DVCs, as well as the fact that most GCs (209/229, 91.3%) have consulted with colleagues on this matter, highlight the need for more professional guidance to ensure equitable patient care.

Focused assessment with sonography for trauma in predicting early surgical intervention in hemodynamically unstable children with blunt abdominal trauma.

OBJECTIVES: The predictive accuracy and clinical role of the focused assessment with sonography for trauma (FAST) exam in pediatric blunt abdominal trauma are uncertain. This study investigates the performance of the emergency department (ED) FAST exam to predict early surgical intervention and subsequent free fluid (FF) in pediatric trauma patients. METHODS: Pediatric level 1 trauma patients ages 0 to 15 years with blunt torso trauma at a single trauma center were retrospectively reviewed. After stratification by initial hemodynamic (HD) instability, the association of a positive FAST with (1) early surgical intervention, defined as operative management (laparotomy or open pericardial window) or angiography within 4 hours of ED arrival and (2) presence of FF during early surgical intervention was determined. RESULTS: Among 508 salvageable pediatric trauma patients with an interpreted FAST exam, 35 (6.9%) had HD instability and 98 (19.3%) were FAST positive. A total of 42 of 508 (8.3%) patients required early surgical intervention, and the sensitivity and specificity of FAST predicting early surgical intervention were 59.5% and 84.3%, respectively. The specificity and positive predictive value of FF during early surgical intervention in FAST-positive HD unstable patients increased from 50% and 90.9% at 4 hours after ED arrival to 100% and 100% at 2 hours after ED arrival, respectively. CONCLUSIONS: In this large series of injured children, a positive FAST exam improves the ability to predict the need for early surgical intervention, and accuracy is greater for FF in HD unstable patients 2 hours after arrival to the ED.

NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 1.2021.

Identifying individuals with hereditary syndromes allows for timely cancer surveillance, opportunities for risk reduction, and syndrome-specific management. Establishing criteria for hereditary cancer risk assessment allows for the identification of individuals who are carriers of pathogenic genetic variants. The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Colorectal provides recommendations for the assessment and management of patients at risk for or diagnosed with high-risk colorectal cancer syndromes. The NCCN Genetic/Familial High-Risk Assessment: Colorectal panel meets annually to evaluate and update their recommendations based on their clinical expertise and new scientific data. These NCCN Guidelines Insights focus on familial adenomatous polyposis (FAP)/attenuated familial adenomatous polyposis (AFAP) syndrome and considerations for management of duodenal neoplasia.

Evaluating low- mid- and high-level fusion strategies for combining Raman and infrared spectroscopy for quality assessment of red meat.

The implementation of Raman and infrared spectroscopy with three data fusion strategies to predict pH and % IMF content of red meat was investigated. Raman and FTIR systems were utilized to assess quality parameters of intact red meat. Quantitative models were built using PLS, with model performances assessed with respect to the determination coefficient (R2), root mean square error and normalized root mean square error (NRMSEP). Results obtained on validation against an independent test set show that the high-level fusion strategy had the best performance in predicting the observed pH; with RP2 and NRMSEP values of 0.73 and 12.9% respectively, whereas low-level fusion strategy showed promise in predicting % IMF (NRMSEP = 8.5%). The fusion of data from more than one technique at low and high level resulted in improvement in the model performances; highlighting the possibility of information enhancement.

WASPnest: a worldwide assessment of social Polistine nesting behavior.

Cooperative breeding decreases the direct reproductive output of subordinate individuals, but cooperation can be evolutionarily favored when there are challenges or constraints to breeding independently. Environmental factors, including temperature, precipitation, latitude, high seasonality, and environmental harshness have been hypothesized to correlate with the presence of cooperative breeding. However, to test the relationship between cooperation and ecological constraints requires comparative data on the frequency and variation of cooperative breeding across differing environments, ideally replicated across multiple species. Paper wasps are primitively social species, forming colonies composed of reproductively active dominants and foraging subordinates. Adult female wasps, referred to as foundresses, initiate new colonies. Nests can be formed by a single solitary foundress (noncooperative) or by multiple foundress associations (cooperative). Cooperative behavior varies within and among species, making paper wasps species well suited to disentangling ecological correlates of variation in cooperative behavior. This data set reports the frequency and extent of cooperative nest founding for 87 paper wasp species. Data were assembled from more than 170 published sources, previously unpublished field observations, and photographs contributed by citizen scientists to online natural history repositories. The data set includes 25,872 nest observations and reports the cooperative behavioral decisions for 45,297 foundresses. Species names were updated to reflect modern taxonomic revisions. The type of substrate on which the nest was built is also included, when available. A smaller population-level version of this data set found that the presence or absence of cooperative nesting in paper wasps was correlated with temperature stability and environmental harshness, but these variables did not predict the extent of cooperation within species. This expanded data set contains details about individual nests and further increases the power to address the relationship between the environment and the presence and extent of cooperative breeding. Beyond the ecological drivers of cooperation, these high-resolution data will be useful for future studies examining the evolutionary consequences of variation in social behavior. This data set may be used for research or educational purposes provided that this data paper is cited.

Using voluntary reports from physicians to learn from diagnostic errors in emergency medicine.

OBJECTIVES: Diagnostic errors are common in the emergency department (ED), but few studies have comprehensively evaluated their types and origins. We analysed incidents reported by ED physicians to determine disease conditions, contributory factors and patient harm associated with ED-related diagnostic errors. METHODS: Between 1 March 2009 and 31 December 2013, ED physicians reported 509 incidents using a department-specific voluntary incident-reporting system that we implemented at two large academic hospital-affiliated EDs. For this study, we analysed 209 incidents related to diagnosis. A quality assurance team led by an ED physician champion reviewed each incident and interviewed physicians when necessary to confirm the presence/absence of diagnostic error and to determine the contributory factors. We generated descriptive statistics quantifying disease conditions involved, contributory factors and patient harm from errors. RESULTS: Among the 209 incidents, we identified 214 diagnostic errors associated with 65 unique diseases/conditions, including sepsis (9.6%), acute coronary syndrome (9.1%), fractures (8.6%) and vascular injuries (8.6%). Contributory factors included cognitive (n=317), system related (n=192) and non-remedial (n=106). Cognitive factors included faulty information verification (41.3%) and faulty information processing (30.6%) whereas system factors included high workload (34.4%) and inefficient ED processes (40.1%). Non-remediable factors included atypical presentation (31.3%) and the patients' inability to provide a history (31.3%). Most errors (75%) involved multiple factors. Major harm was associated with 34/209 (16.3%) of reported incidents. CONCLUSIONS: Most diagnostic errors in ED appeared to relate to common disease conditions. While sustaining diagnostic error reporting programmes might be challenging, our analysis reveals the potential value of such systems in identifying targets for improving patient safety in the ED.

The current state of cancer genetic counseling access and availability.

PURPOSE: Genetic risk assessment and counseling by a qualified genetics professional are recommended to ensure high-quality care for individuals at risk of hereditary cancer. Timely access to genetic services provided by a genetic counselor (GC) is essential, especially in cases where genetic testing results may affect impending surgical decisions. METHODS: A survey of GCs who specialize in cancer genetics was performed to assess service delivery models and ability to accommodate urgent cases. RESULTS: Over half of all respondents indicated that urgent patients can be seen for consultation the same day or within 1-2 business days, and almost all respondents indicated that urgent cases can be seen within 1 week. Most respondents indicated that urgent cases are seen by a GC only with no physician involved. CONCLUSIONS: The results of this survey of GCs demonstrate that timely access to cancer genetic counseling by GCs in an urgent setting is available.Genet Med 18 4, 410-412.

Voluntary Medical Incident Reporting Tool to Improve Physician Reporting of Medical Errors in an Emergency Department.

INTRODUCTION: Medical errors are frequently under-reported, yet their appropriate analysis, coupled with remediation, is essential for continuous quality improvement. The emergency department (ED) is recognized as a complex and chaotic environment prone to errors. In this paper, we describe the design and implementation of a web-based ED-specific incident reporting system using an iterative process. METHODS: A web-based, password-protected tool was developed by members of a quality assurance committee for ED providers to report incidents that they believe could impact patient safety. RESULTS: The utilization of this system in one residency program with two academic sites resulted in an increase from 81 reported incidents in 2009, the first year of use, to 561 reported incidents in 2012. This is an increase in rate of reported events from 0.07% of all ED visits to 0.44% of all ED visits. In 2012, faculty reported 60% of all incidents, while residents and midlevel providers reported 24% and 16% respectively. The most commonly reported incidents were delays in care and management concerns. CONCLUSION: Error reporting frequency can be dramatically improved by using a web-based, user-friendly, voluntary, and non-punitive reporting system.

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.

Researching together: a CTSA partnership of academicians and communities for translation.

BACKGROUND: The Colorado Clinical and Translational Sciences Institute (CCTSI) aims to translate discovery into clinical practice. The Partnership of Academicians and Communities for Translation (PACT) represents a robust campus-community partnership. METHODS: The CCTSI collected data on all PACT activities including meeting notes, staff activity logs, stakeholder surveys and interviews, and several key component in-depth evaluations. Data analysis by Evaluation and Community Engagement Core and PACT Council members identified critical shifts that changed the trajectory of community engagement efforts. RESULTS: Ten "critical shifts" in six broad rubrics created change in the PACT. Critical shifts were decision points in the development of the PACT that represented quantitative and qualitative changes in the work and trajectory. Critical shifts occurred in PACT management and leadership, financial control and resource allocation, and membership and voice. DISCUSSION: The development of a campus-community partnership is not a smooth linear path. Incremental changes lead to major decision points that represent an opportunity for critical shifts in developmental trajectory. We provide an enlightening, yet cautionary, tale to others considering a campus-community partnership so they may prepare for crucial decisions and critical shifts. The PACT serves as a genuine foundational platform for dynamic research efforts aimed at eliminating health disparities.

Public policy action and CCC implementation: benefits and hurdles.

Policy change continues to be an increasingly effective means of advancing the agenda of comprehensive cancer control. Efforts have moved progressively from describing how public policy can enhance the comprehensive cancer control agenda to implementation of public policy best practices at both the state and federal levels. The current political and economic contexts bring additional challenges and opportunities to the efforts surrounding comprehensive cancer control and policy. The purpose of this paper is to highlight recent policy successes, to illustrate the importance of policy as a means of advancing the comprehensive cancer control agenda, and to discuss continued policy action as we move forward in a time of healthcare reform and continuing economic uncertainty.

Barriers to home and community-based service referrals: the physician's role.

The purpose of this study was to obtain information about Department of Veteran Affairs (VA) long-term care (LTC) referrals that could be used to develop interventions that increase the likelihood of referrals to home and community-based services (HCBS) instead of institutional care. This primarily qualitative study was conducted at five VA Medical Centers. The study used three linked methods: interviews with patients and informal caregivers; focus groups with LTC administrators, providers, and social workers; and written rankings of the barriers to HCBS referrals. We unexpectedly identified a cluster of findings indicating the importance of physicians' role in the LTC referral process and the need for more LTC training, particularly about HCBS.

Norwalk virus: how infectious is it?

Noroviruses are major agents of viral gastroenteritis worldwide. The infectivity of Norwalk virus, the prototype norovirus, has been studied in susceptible human volunteers. A new variant of the hit theory model of microbial infection was developed to estimate the variation in Norwalk virus infectivity, as well as the degree of virus aggregation, consistent with independent (electron microscopic) observations. Explicit modeling of viral aggregation allows us to express virus infectivity per single infectious unit (particle). Comparison of a primary and a secondary inoculum showed that passage through a human host does not change Norwalk virus infectivity. We estimate the average probability of infection for a single Norwalk virus particle to be close to 0.5, exceeding that reported for any other virus studied to date. Infected subjects had a dose-dependent probability of becoming ill, ranging from 0.1 (at a dose of 10(3) NV genomes) to 0.7 (at 10(8) virus genomes). A norovirus dose response model is important for understanding its transmission and essential for development of a quantitative risk model. Norwalk virus is a valuable model system to study virulence because genetic factors are known for both complete and partial protection; the latter can be quantitatively described as heterogeneity in dose response models.