GME Expansion to Community Hospitals: Residency Training Beyond the Academic Health Center

Presented as a Poster Presentation at 2020 IUSM Education Day

Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation

Objective Cystic fibrosis (CF), caused by mutations in the CF transmembrane conductance regulator (CFTR) gene, continues to present diagnostic challenges. Newborn screening and an evolving understanding of CF genetics have prompted a reconsideration of the diagnosis criteria. Study design To improve diagnosis and achieve standardized definitions worldwide, the CF Foundation convened a committee of 32 experts in CF diagnosis from 9 countries to develop clear and actionable consensus guidelines on the diagnosis of CF and to clarify diagnostic criteria and terminology for other disorders associated with CFTR mutations. An a priori threshold of ≥80% affirmative votes was required for acceptance of each recommendation statement. Results After reviewing relevant literature, the committee convened to review evidence and cases. Following the conference, consensus statements were developed by an executive subcommittee. The entire consensus committee voted and approved 27 of 28 statements, 7 of which needed revisions and a second round of voting. Conclusions It is recommended that diagnoses associated with CFTR mutations in all individuals, from newborn to adult, be established by evaluation of CFTR function with a sweat chloride test. The latest mutation classifications annotated in the Clinical and Functional Translation of CFTR project (http://www.cftr2.org/index.php) should be used to aid in diagnosis. Newborns with a high immunoreactive trypsinogen level and inconclusive CFTR functional and genetic testing may be designated CFTR-related metabolic syndrome or CF screen positive, inconclusive diagnosis; these terms are now merged and equivalent, and CFTR-related metabolic syndrome/CF screen positive, inconclusive diagnosis may be used. International Statistical Classification of Diseases and Related Health Problems, 10th Revision codes for use in diagnoses associated with CFTR mutations are included

Diagnosis of Cystic Fibrosis in Screened Populations

Objective Cystic fibrosis (CF) can be difficult to diagnose, even when newborn screening (NBS) tests yield positive results. This challenge is exacerbated by the multitude of NBS protocols, misunderstandings about screening vs diagnostic tests, and the lack of guidelines for presumptive diagnoses. There is also confusion regarding the designation of age at diagnosis. Study design To improve diagnosis and achieve standardization in definitions worldwide, the CF Foundation convened a committee of 32 experts with a mission to develop clear and actionable consensus guidelines on diagnosis of CF with an emphasis on screened populations, especially the newborn population. A comprehensive literature review was performed with emphasis on relevant articles published during the past decade. Results After reviewing the common screening protocols and outcome scenarios, 14 of 27 consensus statements were drafted that apply to screened populations. These were approved by 80% or more of the participants. Conclusions It is recommended that all diagnoses be established by demonstrating dysfunction of the CF transmembrane conductance regulator (CFTR) channel, initially with a sweat chloride test and, when needed, potentially with newer methods assessing membrane transport directly, such as intestinal current measurements. Even in babies with 2 CF-causing mutations detected via NBS, diagnosis must be confirmed by demonstrating CFTR dysfunction. The committee also recommends that the latest classifications identified in the Clinical and Functional Translation of CFTR project [http://www.cftr2.org/index.php] should be used to aid with CF diagnosis. Finally, to avoid delays in treatment, we provide guidelines for presumptive diagnoses and recommend how to determine the age of diagnosis

Defining and identifying early-onset lung disease in cystic fibrosis with cumulative clinical characteristics

Background: Because of the heterogeneity in cystic fibrosis (CF) lung disease among young children, a clinical method to identify early-onset lung disease is needed. Objective: To develop a CF early-onset lung disease (CFELD) scoring system by utilizing prospectively collected longitudinal data on manifestations in the first 3 years of life. Design: We studied 145 infants born during 2012-2017, diagnosed through newborn screening by age 3 months, and followed to 36 months of age. Cough severity, pulmonary exacerbations (PEx), respiratory cultures, and hospitalizations were collected at each CF center visit (every 1-2 months in infancy and quarterly thereafter). These data were used to construct the CFELD system and to classify lung disease into five categories: asymptomatic, minimal, mild, moderate, and severe. Results: The most frequent manifestation of CF early lung disease was MD-reported PEx episodes, PEx hospitalizations, and positive Pseudomonas aeruginosa cultures. Parent-reported cough severity was correlated with the number of respiratory hospitalizations (r = 0.48, p < 0.0001). The distribution of CFELD categories was 10% asymptomatic, 17% minimal, 29% mild, 33% moderate, and 12% severe. The moderate and severe categories occurred threefold higher in pancreatic insufficient (PI, 49%) versus sufficient subjects (16%), p < 0.0001. In addition to PI, gastrointestinal and nutrition-related hospitalizations, plasma cytokines interleukin (IL)-6 and IL-10, duration of CFTR modulator therapy, and type of health insurance were significant predictors of CFELD scores. Conclusion: The CFELD scoring system is novel, allows systematic evaluation of lung disease prognosis early, and may aid in therapeutic decision-making particularly in the initiation of CFTR modulator therapy

Engaging All Stakeholders to Create a Trusted, Data-Driven, Process Improvement Approach to Addressing Learner Mistreatment

Problem: Learner mistreatment has remained an ongoing challenge in academic medicine despite accreditation requirements mandating that every program has systems in place to prevent and respond to mistreatment. While efforts vary across institutions, much remains unanswered in the literature about best practices. Additionally, for the foreseeable future, challenges in the learning environment will likely continue and potentially worsen, given the confluence of multiple external stressors including the COVID-19 pandemic, faculty burnout and general political divisiveness in the nation. It is essential, therefore, to focus on indicators of improvement via process metrics such as knowledge and awareness of mistreatment policies and procedures, willingness to report, reasons for not reporting, and satisfaction with having made a report, while simultaneously focusing on the more complex challenge of eliminating mistreatment occurrences. Intervention: We describe the aspects of our mistreatment prevention and response system first implemented in 2017 along with process and outcome measures. The interventions included expanding our policy outlining appropriate conduct in the teacher-learner relationship; a graduated response protocol to allegations of mistreatment with a clear escalation approach; an online reporting system; a graduate medical education exit survey which mirrors the AAMC Graduation Questionnaire on mistreatment; a robust communication and professional development campaign; a comprehensive data dashboard; and a comprehensive summary report dissemination plan. Context: The interventions were implemented at the largest allopathic medical school in the U.S., with nine campuses across the state. The system is available to all learners, including medical students, graduate students, residents, and fellows. Impact: Both institutional and national data sources have informed the continuous improvement strategies. Data from internal reporting systems, institutional surveys, and national data are presented from 2017 to 2021. Findings include an increasing number of incidents reported each year, including confidential reports from students who include their contact information rather than report anonymously, which we view as an indicator of learner trust in the system. Our data also show consistent improvements in learners’ awareness of the policy and procedures and satisfaction with having made a report. We also include other data such as the nature of complaints submitted and timeliness of our institutional response. Lessons Learned: We present several lessons learned that may guide other institutions looking to similarly improve their mistreatment systems, such as a close partnership between faculty affairs, diversity affairs, and educational affairs leadership; communication, professional development, and training through multiple venues and with all stakeholders; easily accessible reporting with anonymous and confidential options and the ability to report on behalf of others; policy development guidance; data transparency and dissemination; and trust-building activities and ongoing feedback from learners

Efficacy and Safety of Ivacaftor in Patients Aged 6 to 11 Years with Cystic Fibrosis with a G551D Mutation

Lumacaftor/ivacaftor combination therapy has shown clinical benefits in patients with cystic fibrosis homozygous for the Phe508del CFTR mutation; however, pretreatment lung function is a confounding factor that potentially affects the efficacy and safety of this therapy. We aimed to assess the efficacy and safety of lumacaftor/ivacaftor therapy in these patients, defined by specific categories of lung function