Optimizing Sexual and Gender Minority Adolescent Health: Putting Evidence into Practice.

INTRODUCTION: Sexual and gender minority (SGM) adolescents are at higher risk for adverse health outcomes compared to their cisgender and heterosexual peers. METHODS: Guided by the EPQA standardized reporting system, we implemented an evidence-based practice (EBP) initiative centered on affirmative healthcare for adolescents in two pediatric primary care sites. This initiative revolved around: (1) provider training on healthcare needs of SGM adolescents, (2) the use of two new EHR charting tools for SGM needs, and (3) examination of the EBP initiative using quantitative and qualitative analyses. RESULTS: Quick-texts tools were used 165 times in 3 months (20.4% compliance). Findings also show providers screened Hispanic patients at a proportionately lower rate (p = .043) as compared to other races and ethnicity. Providers perceived the EBP initiative as informative, feasible, without workflow disruption with suggestions for improvement. DISCUSSION: This EBP initiative has implications for advanced nursing practice, organizational policy, and health equity.

Leveraging population-based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research project.

Exome and genome sequencing are increasingly utilized in research studies and clinical care and can provide clinically relevant information beyond the initial intent for sequencing, including medically actionable secondary findings. Despite ongoing debate about sharing this information with patients and participants, a growing number of clinical laboratories and research programs routinely report secondary findings that increase the risk for selected diseases. Recently, there has been a push to maximize the potential benefit of this practice by implementing proactive genomic screening at the population level irrespective of medical history, but the feasibility of deploying population-scale proactive genomic screening requires scaling key elements of the genomic data evaluation process. Herein, we describe the motivation, development, and implementation of a population-scale variant-first screening pipeline combining bioinformatics-based filtering with a manual review process to screen for clinically relevant findings in research exomes generated through the DiscovEHR collaboration within Geisinger's MyCode® research project. Consistent with other studies, this pipeline yields a screen-positive detection rate between 2.1 and 2.6% (depending on inclusion of those with prior indication-based testing) in 130,048 adult MyCode patient-participants screened for clinically relevant findings in 60 genes. Our variant-first pipeline affords cost and time savings by filtering out negative cases, thereby avoiding analysis of each exome one-by-one, as typically employed in the diagnostic setting. While research is still needed to fully appreciate the benefits of population genomic screening, MyCode provides the first demonstration of a program at scale to help shape how population genomic screening is integrated into routine clinical care.

An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy.

The ACMG/AMP variant classification framework was intended for highly penetrant Mendelian conditions. While it is appreciated that clinically relevant variants exhibit a wide spectrum of penetrance, accurately assessing and expressing the pathogenicity of variants with lower penetrance can be challenging. The vinculin (VCL) gene illustrates these challenges. Model organism data provide evidence that loss of function of VCL may play a role in cardiomyopathy and aggregate case-control studies suggest low penetrance. VCL loss of function variants, however, are rarely identified in affected probands and therefore there is a paucity of family studies clarifying the clinical significance of individual variants. This study, which aggregated data from >18,000 individuals who underwent gene panel or exome testing for inherited cardiomyopathies, identified 32 probands with VCL loss-of-function variants and confirmed enrichment in probands with dilated cardiomyopathy (odds ratio [OR] = 9.01; confidence interval [CI] = 4.93-16.45). Our data revealed that the majority of these individuals (89.5%) had pediatric onset of disease. Family studies demonstrated that heterozygous loss of function of VCL alone is insufficient to cause cardiomyopathy but that these variants do contribute to disease risk. In conclusion, VCL loss-of-function variants should be reported in a diagnostic setting but need to be clearly distinguished as having lower penetrance.

Job Stress, Burnout, Work-Life Balance, Well-Being, and Job Satisfaction Among Pathology Residents and Fellows.

OBJECTIVES: The study explored job stress, burnout, work-life balance, well-being, and job satisfaction among pathology residents and fellows. The aims were to examine the prevalence and sources of stress and burnout, as well as identify resources to promote work-life balance and well-being and prevent burnout. METHODS: The study used a cross-sectional survey deployed online to a large national sample of pathology residents and fellows. RESULTS: Job stress and burnout were prevalent, with more than a third of the respondents reporting that they were currently experiencing burnout. The respondents, particularly residents, were struggling with academics, and higher percentages were struggling with work-life balance and emotional well-being. Overall, the majority of respondents who rated their work-life balance indicated that it was poor or fair. Among the factors contributing to job stress and burnout and detracting from work-life balance, workload was the leading factor. CONCLUSIONS: The factors contributing to job stress and burnout included organizational factors such as workload, value, and aspects of the learning environment, as well as personal factors such as work-life integration. One of the overarching implications is the need to address a range of interdependent considerations in designing resources to reduce job stress, promote work-life balance, and prevent burnout.

The American Society for Clinical Pathology's 2018 Vacancy Survey of Medical Laboratories in the United States.

OBJECTIVES: To determine the extent and distribution of workforce shortages within the nation's medical laboratories. METHODS: The survey was conducted through collaboration between the American Society for Clinical Pathology's Institute of Science, Technology, and Policy in Washington, DC, and the Evaluation, Measurement, and Assessment Department and Board of Certification in Chicago, IL. Data were collected via an internet survey distributed to individuals who were able to report on staffing and certifications for their laboratories. RESULTS: Results show increased vacancy rates for laboratory positions across all departments surveyed. The overall retirement rates are at its lowest, suggesting that the field has already experienced loss of personnel with a vast amount of experience. CONCLUSIONS: Focus on retention of qualified and certified laboratory professionals would be crucial factors in addressing the needs of the laboratory workforce. The field also needs to intensify its efforts on recruiting the next generation of laboratory personnel.

Does Taking the Fellowship In-Service Hematopathology Examination and Performance Relate to Success on the American Board of Pathology Hematology Examination?

OBJECTIVES: The biannual Fellow In-Service Hematopathology Examination (FISHE) assesses knowledge in five content areas. We examined the relationship between taking the FISHE and performance on it with outcomes on the first attempted American Board of Pathology Hematology subspecialty certifying examination (ABP-HE). METHODS: The pass rate between the ABP-HE candidates who took the spring FISHE and those who did not were compared. The likelihood of fellows passing the ABP-HE based on their percentiles on the FISHE was also assessed. RESULTS: ABP-HE candidates who took the spring FISHE had a higher pass rate (96.4%) than those who did not (76.1%, P < .001). Spring FISHE performance, including total percentile and percentiles in four of five FISHE content areas, was only a weak predictor of passing the ABP-HE. CONCLUSIONS: Candidates who take the spring FISHE do better on the ABP-HE than those who do not. Most fellows passed the first attempted ABP-HE regardless of FISHE performance. Whether this is due to fellows making use of the FISHE as a self-evaluation tool to help identify and then correct their knowledge deficiencies remains to be determined.

Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.

PURPOSE: Hypertrophic cardiomyopathy (HCM) is caused primarily by pathogenic variants in genes encoding sarcomere proteins. We report genetic testing results for HCM in 2,912 unrelated individuals with nonsyndromic presentations from a broad referral population over 10 years. METHODS: Genetic testing was performed by Sanger sequencing for 10 genes from 2004 to 2007, by HCM CardioChip for 11 genes from 2007 to 2011 and by next-generation sequencing for 18, 46, or 51 genes from 2011 onward. RESULTS: The detection rate is ~32% among unselected probands, with inconclusive results in an additional 15%. Detection rates were not significantly different between adult and pediatric probands but were higher in females compared with males. An expanded gene panel encompassing more than 50 genes identified only a very small number of additional pathogenic variants beyond those identifiable in our original panels, which examined 11 genes. Familial genetic testing in at-risk family members eliminated the need for longitudinal cardiac evaluations in 691 individuals. Based on the projected costs derived from Medicare fee schedules for the recommended clinical evaluations of HCM family members by the American College of Cardiology Foundation/American Heart Association, our data indicate that genetic testing resulted in a minimum cost savings of about $0.7 million. CONCLUSION: Clinical HCM genetic testing provides a definitive molecular diagnosis for many patients and provides cost savings to families. Expanded gene panels have not substantively increased the clinical sensitivity of HCM testing, suggesting major additional causes of HCM still remain to be identified.