Evaluation of the Diversity, Equity, and Inclusion Curriculum of a Pediatrics Residency Program.

OBJECTIVES: Diversity, equity, and inclusion (DEI) training is essential to graduate medical education, but it lacks standardization. Although the impact of providers' biases and cultural competency on patient outcomes is well documented, the value of and satisfaction with DEI curricula in Pediatrics residency training programs is not well studied. This study aimed to complete a cross-sectional evaluation of the current DEI curriculum at a large Pediatrics-focused academic institution and identify areas of perceived deficiency among Pediatrics trainees. METHODS: Residents and residency program directors completed surveys in 2020. Respondents evaluated the DEI curriculum of the program and the competency of residents to complete patient care related to specific DEI-oriented actions. Our analysis used descriptive statistics. RESULTS: In total, 48 of 137 resident trainees (35%) and 7 of 9 program leaders (78%) completed the survey. Respondents were most dissatisfied with current education related to implicit bias, refugee/immigrant health, and lesbian, gay, bisexual, transgender, queer, intersex, asexual, and other health topics. Respondents reported low resident competency in DEI-focused patient care tasks and did not view residents as competent to address the healthcare needs of patients and families experiencing racism. CONCLUSIONS: Pediatrics residents and program directors consider DEI topics important and express a need for more robust DEI curricula.

Adductor Canal Nerve Block versus Intra-articular Anesthetic in Knee Arthroscopy: A Single-Blinded Prospective Randomized Trial.

Effective perioperative pain control following knee arthroscopy allows patients to reduce narcotic intake, avoid side effects of these medications, and recover more quickly. Adductor canal nerve blockade (ACB) and intra-articular injection of local anesthetic have been described as adjuvant treatments for postoperative pain control following surgery of the knee. This study directly compares the effect of each of these treatment modalities. Patients undergoing knee arthroscopy were blinded and randomized to receive either an ACB (n = 60) or intra-articular injection of local anesthetic (IAB, n = 64). Outcome measures included patient reported visual analog scale (VAS) scores at 1, 2, 4, 8, 16, 24, 36, 48 hours and 1 week and total narcotic consumption at 12, 24, and 48 hours postoperatively. Student's t-tests were used to compare unadjusted VAS scores at each time point and use of postoperative pain medication between treatment groups. Adjusted VAS scores were estimated in a multivariable general linear model with interaction of time and treatment group and other relevant covariates. There were no statistically significant differences between the two groups in terms of gender, age, body mass index, and insurance type. ACB patients had significantly higher pain scores than IAB patients at hours 1 and 2 (hour 1: 4.02 [2.99] vs. 2.59 [3.00], p = 0.009; hour 2: 3.12 [2.44] vs. 2.17 [2.62], p = 0.040). ACB patients had higher pain scores than IAB patients up to hour 16, though hours 4 to 16 were not significantly different. Adjusted covariate analyses demonstrate an additional statistically significant reduction in pain score in the IAB group at hour 4. There were no differences in narcotic consumption. Intraoperative local anesthetic and regional ACB each provides adequate pain control following knee arthroscopy, and intraoperative local anesthetic may provide enhanced pain control for up to 4 hours postoperatively. LEVEL OF EVIDENCE: : Level 1 evidence, randomized control trial.

Increasing Exclusive Nursery Care of Late Preterm and Low Birth Weight Infants.

BACKGROUND AND OBJECTIVE: Late preterm (LPT) and low birth weight (LBW) infants are populations at increased risk for NICU admission, partly due to feeding-related conditions. This study was aimed to increase the percentage of LPT and LBW infants receiving exclusive nursery care using quality improvement methodologies. METHODS: A multidisciplinary team implemented interventions at a single academic center. Included infants were 35 to 36 weeks gestational age and term infants with birth weights <2500 g admitted from the delivery room to the nursery. Drivers of change included feeding protocol, knowledge, and care standardization. We used statistical process control charts to track data over time. The primary outcome was the percentage of infants receiving exclusive nursery care. Secondary outcomes included rates of hypoglycemia, phototherapy, and average weight loss. Balancing measures were exclusive breast milk feeding rates and length of stay. RESULTS: Included infants totaled 1336. The percentage of LPT and LBW infants receiving exclusive nursery care increased from 83.9% to 88.8% with special cause variation starting 1 month into the postintervention period. Reduction in neonatal hypoglycemia, 51.7% to 45.1%, coincided. Among infants receiving exclusive nursery care, phototherapy, weight loss, exclusive breast milk feeding, and length of stay had no special cause variation. CONCLUSIONS: Interventions involving a nursery feeding protocol, knowledge, and standardization of care for LPT and LBW infants were associated with increased exclusive nursery care (4.9%) and reduced rates of neonatal hypoglycemia (6.6%) without adverse effects. This quality initiative allowed for the preservation of the mother-infant dyad using high-value care.

A Refined Teach-back Observation Tool: Validity Evidence in a Pediatric Setting.

BACKGROUND: Teach Back (TB) is recommended to assess and ensure patient understanding, thereby promoting safety, quality, and equity. There are many TB trainings, typically lacking assessment tools with validity evidence. We used a pediatric resident competency-based communication curriculum to develop initial validity evidence and refinement recommendations for a Teach-back Observation Tool (T-BOT). OBJECTIVE: This study aimed to develop initial validity evidence for a refined T-BOT and provide guidance for further enhancements to improve essential TB skills training among pediatric residents. METHODS: After an interactive health literacy (HL) training, residents participated in recorded standardized patient (SP) encounters. Raters developed T-BOT scoring criteria, then scored a gold standard TB video and resident SP encounters. For agreement, Fleiss' Kappa was computed for >2 raters, and Cohen's Kappa for two raters. Percent agreement and intraclass correlation (ICC) were calculated. Statistics were calculated for gold standard (GS) and TB items overall for all six raters, and for five faculty raters. Agreement was based on Kappa: no agreement (≤0), none to slight (0.01-0.20), fair (0.21-0.40), moderate (0.41-0.60), substantial (0.61-0.80), almost perfect (0.81-1.00). KEY RESULTS: For six raters, Kappa for the GS was 0.554 (moderate agreement) with 71.4% agreement; ICC = .597; for SP encounters, it was 0.637 (substantial) with 65.4% agreement; ICC = .647. Individual item agreement for SP encounters average was 0.605 (moderate), ranging from 0.142 (slight) to 1 (perfect). For five faculty raters, Kappa for the GS was 0.779 (substantial) with 85.7% agreement; ICC = .824; for resident SP encounters, it was 0.751 (substantial), with 76.9% agreement; ICC = .759. Individual item agreement on SP encounters average was 0.718 (substantial), ranging from 0.156 (slight) to 1 (perfect). CONCLUSION: We provide initial validity evidence for a modified T-BOT and recommendations for improvement. With further refinements to increase validity evidence, accompanied by shared understanding of TB and rating criteria, the T-BOT may be useful in strengthening approaches to teaching and improving essential TB skills among health care team members, thereby increasing organizational HL and improving outcomes. [HLRP: Health Literacy Research and Practice. 2023;7(4):e187-e196.].

PLAIN LANGUAGE SUMMARY: We provide initial validity evidence for a refined T-BOT and recommendations for further enhancements to improve essential TB skills among pediatric residents. With attention to a shared understanding of TB and rating criteria, this tool may be used to improve HL training, thereby increasing organizational HL and improving outcomes.

Human retinal ganglion cell neurons generated by synchronous BMP inhibition and transcription factor mediated reprogramming.

In optic neuropathies, including glaucoma, retinal ganglion cells (RGCs) die. Cell transplantation and endogenous regeneration offer strategies for retinal repair, however, developmental programs required for this to succeed are incompletely understood. To address this, we explored cellular reprogramming with transcription factor (TF) regulators of RGC development which were integrated into human pluripotent stem cells (PSCs) as inducible gene cassettes. When the pioneer factor NEUROG2 was combined with RGC-expressed TFs (ATOH7, ISL1, and POU4F2) some conversion was observed and when pre-patterned by BMP inhibition, RGC-like induced neurons (RGC-iNs) were generated with high efficiency in just under a week. These exhibited transcriptional profiles that were reminiscent of RGCs and exhibited electrophysiological properties, including AMPA-mediated synaptic transmission. Additionally, we demonstrated that small molecule inhibitors of DLK/LZK and GCK-IV can block neuronal death in two pharmacological axon injury models. Combining developmental patterning with RGC-specific TFs thus provided valuable insight into strategies for cell replacement and neuroprotection.

Frizzled2 receives WntA signaling during butterfly wing pattern formation.

Butterfly color patterns provide visible and biodiverse phenotypic readouts of the patterning processes. Although the secreted ligand WntA has been shown to instruct the color pattern formation in butterflies, its mode of reception remains elusive. Butterfly genomes encode four homologs of the Frizzled-family of Wnt receptors. Here, we show that CRISPR mosaic knockouts of frizzled2 (fz2) phenocopy the color pattern effects of WntA loss of function in multiple nymphalids. Whereas WntA mosaic clones result in intermediate patterns of reduced size, fz2 clones are cell-autonomous, consistent with a morphogen function. Shifts in expression of WntA and fz2 in WntA crispant pupae show that they are under positive and negative feedback, respectively. Fz1 is required for Wnt-independent planar cell polarity in the wing epithelium. Fz3 and Fz4 show phenotypes consistent with Wnt competitive-antagonist functions in vein formation (Fz3 and Fz4), wing margin specification (Fz3), and color patterning in the Discalis and Marginal Band Systems (Fz4). Overall, these data show that the WntA/Frizzled2 morphogen-receptor pair forms a signaling axis that instructs butterfly color patterning and shed light on the functional diversity of insect Frizzled receptors.

Treatment of Vancouver B2 Femur Fractures With Open Reduction Internal Fixation Versus Revision Arthroplasty.

Background Vancouver B2 periprosthetic femur fractures have traditionally been treated with revision arthroplasty. However, there is increasing evidence that open reduction and internal fixation (ORIF) may be a valid alternative treatment strategy. The purpose of this study was to compare the outcomes of ORIF versus revision arthroplasty for the treatment of Vancouver B2 fractures and evaluate the influence of the treating surgeon's fellowship training on treatment selection. Methodology This was a retrospective cohort study of 31 patients treated for Vancouver B2 periprosthetic fractures (16 ORIF and 15 revision arthroplasty) at a single academic Level 1 trauma center. Outcome measures included one-year mortality, revision, reoperation, infection, and blood loss. Results There were no statistically significant differences in revision, reoperation, or infection at an average follow-up of 65 weeks. Median estimated blood loss was higher in the arthroplasty group (700 cc versus 400 cc; P = 0.04). There were five deaths in the ORIF group versus one in the revision group (P = 0.18). Cases treated by surgeons with fellowship training in arthroplasty were more likely to be treated with revision arthroplasty (10/11, 90.9%) than those treated by surgeons with fellowship training in trauma (5/15, 33.3%; P < 0.01). Conclusions There was no difference in outcomes between the two treatment strategies, but revision was associated with higher blood loss. The appropriate treatment method should be based on surgeon familiarity and patients' characteristics.

The Autonomy Toolbox: A Multicenter Collaborative to Promote Resident Autonomy.

OBJECTIVES: Autonomy is necessary for resident professional development and well-being. A recent focus on patient safety has increased supervision and decreased trainee autonomy. Few validated interventions exist to improve resident autonomy. We aimed to use quality improvement methods to increase our autonomy metric, the Resident Autonomy Score (RAS), by 25% within 1 year and sustain for 6 months. METHODS: We developed a bundled-intervention approach to improve senior resident (SR) perception of autonomy on Pediatric Hospital Medicine (PHM) services at 5 academic children's hospitals. We surveyed SR and PHM faculty perceptions of autonomy and targeted interventions toward areas with the highest discordance. Interventions included SR and faculty development, expectation-setting huddles, and SR independent rounding. We developed a Resident Autonomy Score (RAS) index to track SR perceptions over time. RESULTS: Forty-six percent of SRs and 59% of PHM faculty completed the needs assessment survey querying how often SRs were afforded opportunities to provide autonomous medical care. Faculty and SR ratings were discordant in these domains: SR input in medical decisions, SR autonomous decision-making in straightforward cases, follow-through on SR plans, faculty feedback, SR as team leader, and level of attending oversight. The RAS increased by 19% (3.67 to 4.36) 1 month after SR and faculty professional development and before expectation-setting and independent rounding. This increase was sustained throughout the 18-month study period. CONCLUSIONS: SRs and faculty perceive discordant levels of SR autonomy. We created an adaptable autonomy toolbox that led to sustained improvement in perception of SR autonomy.

The landscape of BRCA1 and BRCA2 large rearrangements in an international cohort of over 20 000 ovarian tumors identified using next-generation sequencing.

BACKGROUND: Approximately half of ovarian tumors have defects within the homologous recombination repair pathway. Tumors carrying pathogenic variants (PVs) in BRCA1/BRCA2 are more likely to respond to poly-ADP ribose polymerase (PARP) inhibitor treatment. Large rearrangements (LRs) are a challenging class of variants to identify and characterize in tumor specimens and may therefore be underreported. This study describes the prevalence of pathogenic BRCA1/BRCA2 LRs in ovarian tumors and discusses the importance of their identification using a comprehensive testing strategy. METHODS: Sequencing and LR analyses of BRCA1/BRCA2 were conducted in 20 692 ovarian tumors received between March 18, 2016 and February 14, 2023 for MyChoice CDx testing. MyChoice CDx uses NGS dosage analysis to detect LRs in BRCA1/BRCA2 genes using dense tiling throughout the coding regions and limited flanking regions. RESULTS: Of the 2217 PVs detected, 6.3% (N = 140) were LRs. Overall, 0.67% of tumors analyzed carried a pathogenic LR. The majority of detected LRs were deletions (89.3%), followed by complex LRs (5.7%), duplications (4.3%), and retroelement insertions (0.7%). Notably, 25% of detected LRs encompassed a single or partial single exon. This study identified 84 unique LRs, 2 samples each carried 2 unique LRs in the same gene. We identified 17 LRs that occurred in multiple samples, some of which were specific to certain ancestries. Several cases presented here illustrate the intricacies involved in characterizing LRs, particularly when multiple events occur within the same gene. CONCLUSIONS: Over 6% of PVs detected in the ovarian tumors analyzed were LRs. It is imperative for laboratories to utilize testing methodologies that will accurately detect LRs at a single exon resolution to optimize the identification of patients who may benefit from PARP inhibitor treatment.

First large-scale study of antimicrobial susceptibility data, and genetic resistance determinants, in Fusobacterium necrophorum highlighting the importance of continuing focused susceptibility trend surveillance.

OBJECTIVES: The objective of the study was to explore antimicrobial resistance gene determinant, and phenotypic antibiotic susceptibility, data for Fusobacterium necrophorum from a collection of UK strains. Antimicrobial resistance genes detected in publicly available assembled whole genome sequences were investigated for comparison. METHODS: Three hundred and eighty five F. necrophorum strains (1982-2019) were revived from cryovials (Prolab). Subsequent to sequencing (Illumina) and quality checking, 374 whole genomes were available for analysis. Genomes were interrogated, using BioNumerics (bioMérieux; v 8.1), for the presence of known antimicrobial resistance genes (ARGs). Agar dilution susceptibility results for 313 F. necrophorum isolates (2016-2021) were also examined. RESULTS: The phenotypic data for the 313 contemporary strains demonstrated potential resistance to penicillin in three isolates, using EUCAST v 11.0 breakpoints, and 73 (23%) strains using v 13.0 analysis. All strains were susceptible to multiple agents using v 11.0 guidance other than clindamycin (n = 2). Employing v 13.0 breakpoints, metronidazole (n = 3) and meropenem (n = 13) resistance were also detected. The tet(O), tet(M), tet(40), aph(3')-III, ant(6)-la and blaOXA-85 ARGs were present in publicly available genomes. tet(M), tet(32), erm(A) and erm(B) were found within the UK strains, with correspondingly raised clindamycin and tetracycline minimum inhibitory concentrations. CONCLUSIONS: Susceptibility to antibiotics recommended for the treatment of F. necrophorum infections should not be assumed. With evidence of potential ARG transmission from oral bacteria, and the detection of a transposon-mediated beta-lactamase resistance determinant in F. necrophorum, surveillance of both phenotypic and genotypic antimicrobial susceptibility trends must continue, and increase.

CRISPR mediated transactivation in the human disease vector Aedes aegypti.

As a major insect vector of multiple arboviruses, Aedes aegypti poses a significant global health and economic burden. A number of genetic engineering tools have been exploited to understand its biology with the goal of reducing its impact. For example, current tools have focused on knocking-down RNA transcripts, inducing loss-of-function mutations, or expressing exogenous DNA. However, methods for transactivating endogenous genes have not been developed. To fill this void, here we developed a CRISPR activation (CRISPRa) system in Ae. aegypti to transactivate target gene expression. Gene expression is activated through pairing a catalytically-inactive ('dead') Cas9 (dCas9) with a highly-active tripartite activator, VP64-p65-Rta (VPR) and synthetic guide RNA (sgRNA) complementary to a user defined target-gene promoter region. As a proof of concept, we demonstrate that engineered Ae. aegypti mosquitoes harboring a binary CRISPRa system can be used to effectively overexpress two developmental genes, even-skipped (eve) and hedgehog (hh), resulting in observable morphological phenotypes. We also used this system to overexpress the positive transcriptional regulator of the Toll immune pathway known as AaRel1, which resulted in a significant suppression of dengue virus serotype 2 (DENV2) titers in the mosquito. This system provides a versatile tool for research pathways not previously possible in Ae. aegypti, such as programmed overexpression of endogenous genes, and may aid in gene characterization studies and the development of innovative vector control tools.

The prevalence of Mycoplasma genitalium (MG) and Trichomonas vaginalis (TV) at testing centers in Belgium, Germany, Spain, and the UK using the cobas TV/MG molecular assay.

Mycoplasma genitalium (MG) and Trichomonas vaginalis (TV) can lead to long-term sequelae in males and females; however, global prevalence data vary between geographical regions, as these sexually transmitted infections are not included in routine screening. The objective of this study was to use the cobas® TV/MG assay to assess the point prevalence of TV and MG in specimens from men and women over a broad European geographical area. Urine, vaginal, endocervical, and rectal samples were collected from patients aged ≥ 18 years receiving Chlamydia trachomatis (CT) and/or Neisseria gonorrhoeae (NG) screening as per local standard of care at sites in Belgium, Germany, Spain, and the UK (Wales). Remnant samples were assessed using the cobas TV/MG assay. Analysis of 2795 samples showed that MG prevalence varied slightly across female sample types (range: 1.7-5.8%; p = 0.0042). MG prevalence was higher in male rectal samples (12.5%) than in male urine samples (3.9%; p < 0.0001). TV prevalence was low in male (0.8%; 12/1535) and female (1.3%; 16/1260) samples across all sites. Co-infection of TV/MG with CT or NG was 10.0% (19/190) and 9.6% (7/73), respectively, in both male and female samples. MG and TV prevalence rates were comparable to the published literature in Europe. MG prevalence was highest in male rectal samples; as rectal testing is an off-label use of the cobas TV/MG assay, the clinical utility of this assay for rectal testing should be further investigated.

Predictors of outcomes after surgery for medically intractable insular epilepsy: A systematic review and individual participant data meta-analysis.

Insular epilepsy (IE) is an increasingly recognized cause of drug-resistant epilepsy amenable to surgery. However, concerns of suboptimal seizure control and permanent neurological morbidity hamper widespread adoption of surgery for IE. We performed a systematic review and individual participant data meta-analysis to determine the efficacy and safety profile of surgery for IE and identify predictors of outcomes. Of 2483 unique citations, 24 retrospective studies reporting on 312 participants were eligible for inclusion. The median follow-up duration was 2.58 years (range, 0-17 years), and 206 (66.7%) patients were seizure-free at last follow-up. Younger age at surgery (≤18 years; HR = 1.70, 95% CI = 1.09-2.66, P = .022) and invasive EEG monitoring (HR = 1.97, 95% CI = 1.04-3.74, P = .039) were significantly associated with shorter time to seizure recurrence. Performing MR-guided laser ablation or radiofrequency ablation instead of open resection (OR = 2.05, 95% CI = 1.08-3.89, P = .028) was independently associated with suboptimal or poor seizure outcome (Engel II-IV) at last follow-up. Postoperative neurological complications occurred in 42.5% of patients, most commonly motor deficits (29.9%). Permanent neurological complications occurred in 7.8% of surgeries, including 5% and 1.4% rate of permanent motor deficits and dysphasia, respectively. Resection of the frontal operculum was independently associated with greater odds of motor deficits (OR = 2.75, 95% CI = 1.46-5.15, P = .002). Dominant-hemisphere resections were independently associated with dysphasia (OR = 13.09, 95% CI = 2.22-77.14, P = .005) albeit none of the observed language deficits were permanent. Surgery for IE is associated with a good efficacy/safety profile. Most patients experience seizure freedom, and neurological deficits are predominantly transient. Pediatric patients and those requiring invasive monitoring or undergoing stereotactic ablation procedures experience lower rates of seizure freedom. Transgression of the frontal operculum should be avoided if it is not deemed part of the epileptogenic zone. Well-selected candidates undergoing dominant-hemisphere resection are more likely to exhibit transient language deficits; however, the risk of permanent deficit is very low.

Fluoroscopy-guided injections of the upper extremity: pearls and pitfalls.

Fluoroscopy guidance is commonly utilized for injections in the upper extremity, with increased accuracy for injection placement compared to blind injection. Injection of the glenohumeral joint is the most commonly performed upper extremity procedure. However, there are a number of other sites which can be easily injected under fluoroscopy including the acromioclavicular joint, subacromial subdeltoid bursa, biceps tendon sheath, scapulothoracic bursa, elbow, wrist, first CMC joint, and pisotriquetral joint. Fluoroscopy can be used to guide injections into the glenohumeral, elbow, or wrist joints preceding MR arthrography. While there are technique similarities when injecting any of these sites, some particular approaches and pitfalls are unique to each anatomic site.

Reduction of Very Rapid Emergency Transfers to the Pediatric Intensive Care Unit.

Introduction: Emergency transfers are associated with increased inpatient pediatric mortality. Therefore, interventions to improve system-level situational awareness were utilized to decrease a subset of emergency transfers that occurred within four hours of admission to an inpatient medical-surgical unit called very rapid emergency transfers (VRET). Specifically, we aimed to increase the days between VRET from non-ICU inpatient units from every 10 days to every 25 days over 1 year. Methods: Using the Model for Improvement, we developed an interdisciplinary team to reduce VRET. The key drivers targeted were the admission process from the emergency department and ambulatory clinics, sepsis recognition and communication, and expansion of our situational awareness framework. Days between VRET defined the primary outcome metric for this improvement project. Results: After six months of interventions, our baseline improved from a VRET every 10 days to every 79 days, followed by another shift to 177 days, which we sustained for 3 years peaking at 468 days between events. Conclusion: Interventions targeting multiple admission sources to improve early recognition and communication of potential clinical deterioration effectively reduced and nearly eliminated VRET at our organization.

ACR Appropriateness Criteria® Suspected Osteomyelitis, Septic Arthritis, or Soft Tissue Infection (Excluding Spine and Diabetic Foot): 2022 Update.

Musculoskeletal infections involve bones, joints, and soft tissues. These infections are a common clinical scenario in both outpatient and emergent settings. Although radiography provides baseline findings, a multimodality approach is often implemented to provide more detailed information on the extent of infection involvement and complications. MRI with intravenous contrast is excellent for the evaluation of musculoskeletal infections and is the most sensitive for diagnosing osteomyelitis. MRI, CT, and ultrasound can be useful for joint and soft tissue infections. When MRI or CT is contraindicated, bone scans and the appropriate utilization of other nuclear medicine scans can be implemented for aiding in the diagnostic imaging of infection, especially with metal hardware and arthroplasty artifacts on MRI and CT. The ACR Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision process support the systematic analysis of the medical literature from peer-reviewed journals. Established methodology principles such as Grading of Recommendations Assessment, Development, and Evaluation or GRADE are adapted to evaluate the evidence. The RAND/UCLA Appropriateness Method User Manual provides the methodology to determine the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances in which peer-reviewed literature is lacking or equivocal, experts may be the primary evidentiary source available to formulate a recommendation.

Don't Let Perfect Be the Enemy of Good: A Proof of Concept for a Custom National Data Repository of Quality Measures for Free and Charitable Clinics.

Purpose: Free and charitable clinics (FCCs), nonprofits that utilize volunteer licensed health care professionals to provide health services at no cost or a small fee to low-income uninsured patients who are disproportionately from underrepresented communities, have been part of the safety net for over a century. Approximately 1400 known FCCs serve two million patients annually. Despite their longevity and sizable number, evidence regarding the quality of care in FCCs is lacking. We report new evidence generated by a national initiative, the Roadmap to Health Equity. Established in 2017, this consortium is co-led by two national organizations serving FCCs and an academic institution. It has involved more than 150 FCC stakeholders with the shared goal of improving the quality of care and reducing inequities. The centerpiece is a custom national data repository of 15 validated clinical quality measures and patient-level characteristics. Methods: Fifty FCCs pilot tested the data repository. Clinics submitted patient-level data on two blood pressure (BP) measures and at least one additional measure. Descriptive statistics were stratified by sex, race, ethnicity, and language. Results: In 2021, 33 pilot FCCs from 21 states reported data across 13 of the 15 clinical measures, representing 34,359 unique patients. For example, on average, 60% of patients had controlled BP, but Black patients had lower rates of BP control than Hispanic and White patients (55.9% vs. 62.1% and 63.0%, respectively). Conclusion: Our findings demonstrate a proof of concept. By standardizing quality measures alongside patient characteristics, clinics can become aware of racial/ethnic inequalities in health outcomes. This information can motivate clinics to investigate the causes and implement solutions. In an environment where outcome data from FCCs are scarce, the new national data repository lays the foundation for routine stratified reporting of a range of quality outcomes for an important safety net for the uninsured.

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.

Importance: It is currently unknown how often and in which ways a genetic diagnosis given to a patient with epilepsy is associated with clinical management and outcomes. Objective: To evaluate how genetic diagnoses in patients with epilepsy are associated with clinical management and outcomes. Design, Setting, and Participants: This was a retrospective cross-sectional study of patients referred for multigene panel testing between March 18, 2016, and August 3, 2020, with outcomes reported between May and November 2020. The study setting included a commercial genetic testing laboratory and multicenter clinical practices. Patients with epilepsy, regardless of sociodemographic features, who received a pathogenic/likely pathogenic (P/LP) variant were included in the study. Case report forms were completed by all health care professionals. Exposures: Genetic test results. Main Outcomes and Measures: Clinical management changes after a genetic diagnosis (ie, 1 P/LP variant in autosomal dominant and X-linked diseases; 2 P/LP variants in autosomal recessive diseases) and subsequent patient outcomes as reported by health care professionals on case report forms. Results: Among 418 patients, median (IQR) age at the time of testing was 4 (1-10) years, with an age range of 0 to 52 years, and 53.8% (n = 225) were female individuals. The mean (SD) time from a genetic test order to case report form completion was 595 (368) days (range, 27-1673 days). A genetic diagnosis was associated with changes in clinical management for 208 patients (49.8%) and usually (81.7% of the time) within 3 months of receiving the result. The most common clinical management changes were the addition of a new medication (78 [21.7%]), the initiation of medication (51 [14.2%]), the referral of a patient to a specialist (48 [13.4%]), vigilance for subclinical or extraneurological disease features (46 [12.8%]), and the cessation of a medication (42 [11.7%]). Among 167 patients with follow-up clinical information available (mean [SD] time, 584 [365] days), 125 (74.9%) reported positive outcomes, 108 (64.7%) reported reduction or elimination of seizures, 37 (22.2%) had decreases in the severity of other clinical signs, and 11 (6.6%) had reduced medication adverse effects. A few patients reported worsening of outcomes, including a decline in their condition (20 [12.0%]), increased seizure frequency (6 [3.6%]), and adverse medication effects (3 [1.8%]). No clinical management changes were reported for 178 patients (42.6%). Conclusions and Relevance: Results of this cross-sectional study suggest that genetic testing of individuals with epilepsy may be materially associated with clinical decision-making and improved patient outcomes.