The impact of clinical genome sequencing in a global population with suspected rare genetic disease.

There is mounting evidence of the value of clinical genome sequencing (cGS) in individuals with suspected rare genetic disease (RGD), but cGS performance and impact on clinical care in a diverse population drawn from both high-income countries (HICs) and low- and middle-income countries (LMICs) has not been investigated. The iHope program, a philanthropic cGS initiative, established a network of 24 clinical sites in eight countries through which it provided cGS to individuals with signs or symptoms of an RGD and constrained access to molecular testing. A total of 1,004 individuals (median age, 6.5 years; 53.5% male) with diverse ancestral backgrounds (51.8% non-majority European) were assessed from June 2016 to September 2021. The diagnostic yield of cGS was 41.4% (416/1,004), with individuals from LMIC sites 1.7 times more likely to receive a positive test result compared to HIC sites (LMIC 56.5% [195/345] vs. HIC 33.5% [221/659], OR 2.6, 95% CI 1.9-3.4, p < 0.0001). A change in diagnostic evaluation occurred in 76.9% (514/668) of individuals. Change of management, inclusive of specialty referrals, imaging and testing, therapeutic interventions, and palliative care, was reported in 41.4% (285/694) of individuals, which increased to 69.2% (480/694) when genetic counseling and avoidance of additional testing were also included. Individuals from LMIC sites were as likely as their HIC counterparts to experience a change in diagnostic evaluation (OR 6.1, 95% CI 1.1-∞, p = 0.05) and change of management (OR 0.9, 95% CI 0.5-1.3, p = 0.49). Increased access to genomic testing may support diagnostic equity and the reduction of global health care disparities.

Developing Evidence for Equitable Assessment Characteristics Based on Clinical Learner Preferences Using Discrete Choice Experiments.

PURPOSE: Medical education is only beginning to explore the factors that contribute to equitable assessment in clinical settings. Increasing knowledge about equitable assessment ensures a quality medical education experience that produces an excellent, diverse physician workforce equipped to address the health care disparities facing patients and communities. Through the lens of the Anti-Deficit Achievement framework, the authors aimed to obtain evidence for a model for equitable assessment in clinical training. METHOD: A discrete choice experiment approach was used which included an instrument with 6 attributes each at 2 levels to reveal learner preferences for the inclusion of each attribute in equitable assessment. Self-identified underrepresented in medicine (UIM) and not underrepresented in medicine (non-UIM) (N = 306) fourth-year medical students and senior residents in medicine, pediatrics, and surgery at 9 institutions across the United States completed the instrument. A mixed-effects logit model was used to determine attributes learners valued most. RESULTS: Participants valued the inclusion of all assessment attributes provided except for peer comparison. The most valued attribute of an equitable assessment was how learner identity, background, and trajectory were appreciated by clinical supervisors. The next most valued attributes were assessment of growth, supervisor bias training, narrative assessments, and assessment of learner's patient care, with participants willing to trade off any of the attributes to get several others. There were no significant differences in value placed on assessment attributes between UIM and non-UIM learners. Residents valued clinical supervisors valuing learner identity, background, and trajectory and clinical supervisor bias training more so than medical students. CONCLUSIONS: This study offers support for the components of an antideficit-focused model for equity in assessment and informs efforts to promote UIM learner success and guide equity, diversity, and inclusion initiatives in medical education.

Family-Educator Partnership in the Development of Entrustable Professional Activities in Complex Care.

PROBLEM: Incorporating patient and family voices in the development of entrustable professional activities (EPAs) is not standard practice. Care of children with medical complexity (CMC) is an area of pediatrics that relies on family partnership, and families of CMC are ideal partners in EPA development given their expertise in their child's care and experience interacting with the health care system. The authors describe their model for partnering with families to develop EPAs and reflect on the unique contributions of family leaders to the process. APPROACH: After recruitment of family leaders from a national organization of families and friends of children with special health care needs, the authors used a multistage process for EPA development from June 2019 to February 2021. Family leaders were integrated throughout the process, including creating EPA descriptions, revising content across all EPAs, appraising EPAs through virtual focus groups with other key stakeholders, and finalizing and publishing EPAs. The authors used content analysis to identify recommendations for patient- and family-integrated EPA development. OUTCOMES: Family leaders and educators partnered in every phase of developing EPAs for the care of CMC, including as content experts, editors, focus group facilitators, and coauthors. Family leaders recommended substantive changes to all EPAs, including revising language, augmenting content, and modifying scope of practice. In addition, content analysis of family leaders' revisions yielded 10 recommendations to ensure that written EPA descriptions are patient- and family-centered. NEXT STEPS: The described process of EPA development for the care of CMC models how families can be integrated into competency framework development and highlights their contributions. Family leader recommendations for embedding patient and family voices in EPA descriptions can serve as a guide for EPA development in other specialties.

A Multistakeholder Approach to the Development of Entrustable Professional Activities in Complex Care.

BACKGROUND: Care of children with medical complexity (CMC) involves unique knowledge, skills, and attitudes. Previous work has identified curricular priorities in complex care for pediatricians yet there are no established competency frameworks to guide curriculum development. We aimed to develop and appraise Entrustable Professional Activities (EPAs) for the care of CMC with multistakeholder involvement. METHODS: We recruited complex care practitioners to develop EPAs using a template for elaborating descriptive elements. A team of clinicians, educators, trainees, and family leaders refined EPAs and mapped content to the Accreditation Council for Graduate Medical Education Milestones. We conducted virtual focus groups to assess whether EPAs represented the essential skills of pediatricians caring for CMC. Focus group data were analyzed using content analysis. RESULTS: Content experts developed 11 EPAs for the care of CMC describing knowledge, skills, and attitudes required for attaining competency. EPAs were mapped to 21 of the 21 (100%) reporting pediatric milestones. Focus group participants endorsed and refined EPA content. Categories of feedback included clarifying medical knowledge, expanding on interpersonal communication skills, emphasizing systems-based practice, and affirming family partnership. CONCLUSIONS: A systematic approach to developing EPAs for the care of CMC provides a guide for curriculum development and assessment in complex care.

Healthcare Utilization of Complex Chronically Ill Children Managed by a Telehealth-Based Team.

Objectives: Medical advances have improved survival of critically ill children, increasing the number that have substantial ongoing care needs. The first aim of this study was to compare healthcare utilization of children with complex chronic conditions across an extensive geographic area managed by a predominantly telehealth-based team (FamiLy InteGrated Healthcare Transitions-FLIGHT) compared to matched historical controls. The second aim was to identify risk factors for healthcare utilization within the FLIGHT population. Methods: We performed a retrospective cohort study of all patients enrolled in the care management team. First, we compared them to age- and technology-based matched historic controls across medical resource-utilization outcomes. Second, we used univariable and multivariable linear regression models to identify risk factors for resource utilization within the FLIGHT population. Results: Sixty-four FLIGHT patients were included, with 34 able to be matched with historic controls. FLIGHT patients had significantly fewer hospital days per year (13.6 vs. 30.3 days, p = 0.02) and shorter admissions (6.0 vs. 17.3 days, p = 0.02) compared to controls. Within the telehealth managed population, increased number of technologies was associated with more admissions per year (coefficient 0.90, CI 0.05 - 1.75) and hospital days per year (16.83, CI 1.76 - 31.90), although increased number of complex chronic conditions was not associated with an increase in utilization. Conclusion: A telehealth-based care coordination team was able to significantly decrease some metrics of healthcare utilization in a complex pediatric population. Future study is warranted into utilization of telemedicine for care coordination programs caring for children with medical complexity.

Shared Mental Models Among Clinical Competency Committees in the Context of Time-Variable, Competency-Based Advancement to Residency.

PURPOSE: To evaluate response process validity evidence for clinical competency committee (CCC) assessments of first-year residents on a subset of General Pediatrics Entrustable Professional Activities (EPAs) and milestones in the context of a national pilot of competency-based, time-variable (CBTV) advancement from undergraduate to graduate medical education. METHOD: Assessments of 2 EPAs and 8 milestones made by the trainees' actual CCCs and 2 different blinded "virtual" CCCs for 48 first-year pediatrics residents at 4 residency programs between 2016 and 2018 were compared. Residents had 3 different training paths from medical school to residency: time-variable graduation at the same institution as their residency, time-fixed graduation at the same institution, or time-fixed graduation from a different institution. Assessments were compared using ordinal mixed-effects models. RESULTS: Actual CCCs assigned residents higher scores than virtual CCCs on milestones and one EPA's supervision levels. Residents who graduated from a different institution than their residency received lower milestone ratings than either group from the same institution; CBTV residents received higher ratings on one milestone (ICS4) and similar ratings on all others compared with non-CBTV residents who completed medical school at the same institution. CONCLUSIONS: First-year residents who graduated from CBTV medical school programs were assessed as having the same level of competence as residents who graduated from traditional medical school programs, but response process evidence suggests that members of CCCs may also draw on undocumented personal knowledge of the learner to draw conclusions about resident competence.

The Clinical Learning Environment and Workplace-Based Assessment: Frameworks, Strategies, and Implementation.

This article provides an overview of the role played by the clinical learning environment in providing opportunities for assessment of trainee performance and how those assessments can guide learning. It reviews the importance of competency models as frameworks to facilitate the creation of a shared mental model of what is to be learned between learners and supervisors. In addition, it discusses how assessment can be used to drive mastery learning as well as the components necessary for a program of assessment.

Motivation for feedback-seeking among pediatric residents: a mixed methods study.

BACKGROUND: For effective self-directed life-long learning physicians need to engage in feedback-seeking, which means fostering such behavior during training. Self-determination theory (SDT) posits that intrinsic motivation is fostered when the environment optimizes the individual's experience of autonomy, relatedness, and competence. Educational settings meeting these psychological needs may foster intrinsic motivation in trainees, enhance their desire for feedback, and promote feedback-seeking. We sought to examine residents' feedback-seeking behaviors through the lens of SDT and explore the association with intrinsic motivation and career choice. METHODS: We used a mixed-methods approach with an explanatory sequential design. Residents participated in simulation training, completed an inventory of intrinsic motivation (IMI) and responded to sequential opportunities for performance feedback requiring different levels of effort. We compared IMI scores and career choice between groups with different effort. We interviewed high-effort feedback-seekers and conducted thematic analysis of interview data. RESULTS: Thirty-four of 35 residents completed the survey (97%). Of those completing the study, 12 engaged in low-effort feedback-seeking only, 10 indicated intent for high-effort feedback-seeking and 10 actually engaged in higher effort to get feedback. Groups did not differ in mean IMI scores. Among high-effort feedback-seekers more residents were interested in critical care-related fields compared to the other groups. We identified 5 themes around autonomy, relatedness, and competence clarifying residents' reasons for feedback-seeking. CONCLUSIONS: Our findings suggest that among residents, the relationship between motivation and feedback-seeking is complex and cannot be predicted by IMI score. Career plans and relationships with feedback providers impact feedback-seeking, which can inform educational interventions.

Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys).

Congenital sodium diarrhea is a rare and life-threatening disorder characterized by a severe, secretory diarrhea containing high concentrations of sodium, leading to hyponatremia and metabolic acidosis. It may occur in isolation or in association with systemic features such as facial dysmorphism, choanal atresia, imperforate anus, and corneal erosions. Mutations in the serine protease inhibitor, Kunitz-Type 2 (SPINT2) gene have been associated with congenital sodium diarrhea and additional syndromic features. We present a child with congenital sodium diarrhea, cleft lip and palate, corneal erosions, optic nerve coloboma, and intermittent exotropia who was found to have biallelic mutations in SPINT2. One mutation, c.488A > G, predicting p.(Tyr163Cys), has been previously associated with a syndromic form of congenital sodium diarrhea. The other mutation, c.166_167dupTA, predicting p.(Asn57Thrfs*24) has not previously been reported and is likely a novel pathogenic variant for this disorder. We found only one other report of an optic nerve coloboma associated with SPINT2 mutations and this occurred in a patient with congenital tufting enteropathy. Our patient confirms an association of ocular coloboma with presumed loss of SPINT2 function.

Gamification and Microlearning for Engagement With Quality Improvement (GAMEQI): A Bundled Digital Intervention for the Prevention of Central Line-Associated Bloodstream Infection.

Central line-associated bloodstream infections (CLABSIs) cause major patient harm, preventable through attention to line care best practice standards. The objective was to determine if a digital self-assessment application (CLABSI App), bundling line care best practices with social gamification and in-context microlearning, could engage nurses in CLABSI prevention. Nurses caring for children with indwelling central venous catheters in 3 high-risk units were eligible to participate. All other units served as controls. The intervention was a 12-month nonrandomized quality improvement study of CLABSI App implementation with interunit competitions. Compared to the preceding year, the intervention group (9886 line days) CLABSI rate decreased by 48% ( P = .03). Controls (7879 line days) did not change significantly. In all, 105 unique intervention group nurses completed 673 self-assessments. Competitions were associated with increased engagement as measured by self-assessments and unique participants. This model could be extended to other health care-associated infections, and more broadly to process improvement within and across health care systems.

Useful but Different: Resident Physician Perceptions of Interprofessional Feedback.

UNLABELLED: Phenomenon: Based on recently formulated interprofessional core competencies, physicians are expected to incorporate feedback from other healthcare professionals. Based on social identity theory, physicians likely differentiate between feedback from members of their own profession and others. The current study examined residents' experiences with, and perceptions of, interprofessional feedback. APPROACH: In 2013, Anesthesia, Obstetrics-Gynecology, Pediatrics, and Psychiatry residents completed a survey including questions about frequency of feedback from different professionals and its perceived value (5-point scale). The authors performed an analysis of variance to examine interactions between residency program and profession of feedback provider. They conducted follow-up interviews with a subset of residents to explore reasons for residents' survey ratings. FINDINGS: Fifty-two percent (131/254) of residents completed the survey, and 15 participated in interviews. Eighty percent of residents reported receiving written feedback from physicians, 26% from nurses, and less than 10% from other professions. There was a significant interaction between residency program and feedback provider profession, F(21, 847) = 3.82, p < .001, and a significant main effect of feedback provider profession, F(7, 847) = 73.7, p < .001. On post hoc analyses, residents from all programs valued feedback from attending physicians higher than feedback from others, and anesthesia residents rated feedback from other professionals significantly lower than other residents. Ten major themes arose from qualitative data analysis, which revealed an overall positive attitude toward interprofessional feedback and clarified reasons behind residents' perceptions and identified barriers. Insights: Residents in our study reported limited exposure to interprofessional feedback and valued such feedback less than intraprofessional feedback. However, our data suggest opportunities exist for effective utilization of interprofessional feedback.

Transitional clerkship: an experiential course based on workplace learning theory.

Starting clerkships is anxiety provoking for medical students. To ease the transition from preclerkship to clerkship curricula, schools offer classroom-based courses which may not be the best model for preparing learners. Drawing from workplace learning theory, the authors developed a seven-day transitional clerkship (TC) in 2007 at the University of California, San Francisco School of Medicine in which students spent half of the course in the hospital, learning routines and logistics of the wards along with their roles and responsibilities as members of ward teams. Twice, they admitted and followed a patient into the next day as part of a shadow team that had no patient-care responsibilities. Dedicated preceptors gave feedback on oral presentations and patient write-ups. Satisfaction with the TC was higher than with the previous year's classroom-based course. TC students felt clearer about their roles and more confident in their abilities as third-year students compared with previous students. TC students continued to rate the transitional course highly after their first clinical rotation. Preceptors were enthusiastic about the course and expressed willingness to commit to future TC preceptorships. The transitional course models an approach to translating workplace learning theory into practice and demonstrates improved satisfaction, better understanding of roles, and increased confidence among new third-year students.

Impact of an in-person versus web-based practice standardized patient examination on student performance on a subsequent high-stakes standardized patient examination.

BACKGROUND: Optimal methods of preparing students for high-stakes standardized patient (SP) examinations are unknown. PURPOSES: The purpose is to compare the impact of two formats of a formative SP examination (Web-based vs. in-person) on scores on a subsequent high-stakes SP examination and to compare students' satisfaction with each formative examination format. METHODS: Clustered randomized trial comparing a Web-based module versus in-person formative SP examination. We compared scores on a subsequent high-stakes SP examination and satisfaction. RESULTS: Scores on the subsequent high-stakes SP examination did not differ between the two formative formats but were higher after the formative assessment than without (p < .001). Satisfaction was higher with the in-person than Web-based formative assessment format (4.00 vs. 3.62 on a 5-point scale, p = .01). CONCLUSIONS: Two formats of a formative SP examination led to equivalent improvement in scores on a subsequent high-stakes examination. Students preferred an in-person formative examination to online but were satisfied with both.