Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions.

PURPOSE: This study aimed to estimate the cost-effectiveness of exome sequencing (ES) and genome sequencing (GS) for children. METHODS: We modeled costs, diagnoses, and quality-adjusted life years (QALYs) for diagnostic strategies for critically ill infants (aged <1 year) and children (aged <18 years) with suspected genetic conditions: (1) standard of care (SOC) testing, (2) ES, (3) GS, (4) SOC followed by ES, (5) SOC followed by GS, (6) ES followed by GS, and (7) SOC followed by ES followed by GS. We calculated the 10-year incremental cost per additional diagnosis, and lifetime incremental cost per QALY gained, from a health care perspective. RESULTS: First-line GS costs $15,048 per diagnosis vs SOC for infants and $27,349 per diagnosis for children. If GS is unavailable, ES represents the next most efficient option compared with SOC ($15,543 per diagnosis for infants and $28,822 per diagnosis for children). Other strategies provided the same or fewer diagnoses at a higher incremental cost per diagnosis. Lifetime results depend on the patient's assumed long-term prognosis after diagnosis. For infants, GS ranged from cost-saving (vs all alternatives) to $18,877 per QALY (vs SOC). For children, GS (vs SOC) ranged from $119,705 to $490,047 per QALY. CONCLUSION: First-line GS may be the most cost-effective strategy for diagnosing infants with suspected genetic conditions. For all children, GS may be cost-effective under certain assumptions. ES is nearly as efficient as GS and hence is a viable option when GS is unavailable.

Real-world economic evaluation of prospective rapid whole-genome sequencing compared to a matched retrospective cohort of critically ill pediatric patients in the United States.

There is an increasing demand for supporting the adoption of rapid whole-genome sequencing (rWGS) by demonstrating its real-world value. We aimed to assess the cost-effectiveness of rWGS in critically ill pediatric patients with diseases of unknown cause. Data were collected prospectively of patients admitted to the Nicklaus Children's Hospital's intensive care units from March 2018 to September 2020, with rWGS (N = 65). Comparative data were collected in a matched retrospective cohort with standard diagnostic genetic testing. We determined total costs, diagnostic yield (DY), and incremental cost-effectiveness ratio (ICER) adjusted for selection bias and right censoring. Sensitivity analyses explored the robustness of ICER through bootstrapping. rWGS resulted in a diagnosis in 39.8% while standard testing in 13.5% (p = 0.026). rWGS resulted in a mean saving per person of $100,440 (SE = 26,497, p < 0.001) and a total of $6.53 M for 65 patients. rWGS in critically ill pediatric patients is cost-effective, cost-saving, shortens diagnostic odyssey, and triples the DY of traditional approaches.

Development and Validation of a Web-Based Pediatric Readmission Risk Assessment Tool.

OBJECTIVES: Accurately predicting and reducing risk of unplanned readmissions (URs) in pediatric care remains difficult. We sought to develop a set of accurate algorithms to predict URs within 3, 7, and 30 days of discharge from inpatient admission that can be used before the patient is discharged from a current hospital stay. METHODS: We used the Children's Hospital Association Pediatric Health Information System to identify a large retrospective cohort of 1 111 323 children with 1 321 376 admissions admitted to inpatient care at least once between January 1, 2016, and December 31, 2017. We used gradient boosting trees (XGBoost) to accommodate complex interactions between these predictors. RESULTS: In the full cohort, 1.6% of patients had at least 1 UR in 3 days, 2.4% had at least 1 UR in 7 days, and 4.4% had at least 1 UR within 30 days. Prediction model discrimination was strongest for URs within 30 days (area under the curve [AUC] = 0.811; 95% confidence interval [CI]: 0.808-0.814) and was nearly identical for UR risk prediction within 3 days (AUC = 0.771; 95% CI: 0.765-0.777) and 7 days (AUC = 0.778; 95% CI: 0.773-0.782), respectively. Using these prediction models, we developed a publicly available pediatric readmission risk scores prediction tool that can be used before or during discharge planning. CONCLUSIONS: Risk of pediatric UR can be predicted with information known before the patient's discharge and that is easily extracted in many electronic medical record systems. This information can be used to predict risk of readmission to support hospital-discharge-planning resources.

Impact of the Choosing Wisely® Campaign Recommendations for Hospitalized Children on Clinical Practice: Trends from 2008 to 2017.

BACKGROUND: The Choosing Wisely® Campaign (CWC) was launched in 2012. Five recommendations to reduce the use of "low-value" services in hospitalized children were published in 2013. OBJECTIVES: The aim of this study was to estimate the frequency and trends of utilization of these services in tertiary children's hospitals five years before and after the publication of the recommendations. METHODS: We conducted a retrospective, longitudinal analysis of hospitalizations to 36 children's hospitals from 2008 to 2017. The "low-value" services included (1) chest radiograph (CXR) for asthma, (2) CXR for bronchiolitis, (3) relievers for bronchiolitis, (4) systemic steroids for lower respiratory tract infection (LRTI), and (5) acid suppressor therapy for uncomplicated gastroesophageal reflux (GER). We estimated the annual percentages of the use of these services after risk adjustment, followed by an interrupted time series (ITS) analysis to compare trends before and after the publication of the recommendations. RESULTS: The absolute decreases in utilization were 36.6% in relievers and 31.5% in CXR for bronchiolitis, 24.1% in acid suppressors for GER, 20.8% in CXR for asthma, and 2.9% in steroids for LRTI. Trend analysis showed that one "low-value" service declined significantly immediately (use of CXR for asthma), and another decreased significantly over time (relievers for bronchiolitis) after the CWC. CONCLUSIONS: There was some decrease in the utilization of "low-value" services from 2008 to 2017. Limited changes in trends occurred after the publication of the recommendations. These findings suggest a limited impact of the CWC on clinical practice in these areas. Additional interventions are required for a more effective dissemination of the CWC recommendations for hospitalized children.

Health Care Access Barriers Bring Children to Emergency Rooms More Frequently: A Representative Survey.

Children may visit the emergency department (ED) regularly in part because they and their caregivers may be experiencing barriers to appropriate and timely pediatric care. However, assessing the wide range of potential barriers to access to care that children and their caregivers may experience is often a challenge. The objective of this study was to assess the barriers to pediatric health care reported by caregivers and to examine the association between those reported barriers to care with the frequency of children's ED visits in the past 12 months. Assessment of ED utilization and access to care barriers was made through a telephone interview survey conducted as part of a broader Community Health Needs Assessment in 2015. A weighted community sample of adult caregivers (N = 1057) of children between the ages of 0-17 residing in Miami-Dade, Broward, and Palm Beach counties, Florida were contacted. This study found that multiple ED visits (≥2 vs. 0) in the past 12 months by a child were most strongly associated with access to care barriers attributed to language and culture (relative risk [RR] = 2.51), trouble finding a doctor (RR = 1.86), scheduling an appointment (RR = 1.68), and transportation access (RR = 1.73). These findings suggest that access to care barriers experienced by households may exacerbate the risk of a child experiencing repeated visits to the ED in a year. Findings are discussed further in the context of actionable population health management strategies to reduce risk of frequent ED utilization by children.

Utilizing Community Health Needs Assessments (CHNAs) in Nonprofit Hospitals to Guide Population-Centered Outcomes Research for Pediatric Patients: New Recommendations for CHNA Reporting.

Currently, Community Health Needs Assessment (CHNA) reports lack a standard structure, making it difficult to derive meaningful information. However, they have the potential to be a useful tool for analyzing pediatric outcomes, guiding resource allocation, and linking to Patient-Centered Outcomes Research Institute priorities. The objective was to evaluate the utility of CHNA for informing future pediatric, patient-centered outcomes research. The authors analyzed CHNA documents, published before July 1, 2016 by 61 nonprofit hospitals, focusing on 4 metropolitan areas in Florida: Miami, Orlando, Tampa, and Jacksonville. Out of 18 health priorities identified, access to care and obesity were universally recognized as the most urgent pediatric health needs across all hospital types and metropolitan regions. This analysis also yielded insights into key regional differences. The authors advocate that a major change in the CHNA format be implemented using a common set of domains to produce meaningful, interpretable, and comparable results that inform and guide patient-centered health outcomes research.