Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization
infant; childhood mortality; retrospective study; priority journal; cohort analysis; human; article; female; male; controlled study; clinical article; palliative therapy; cost control; hospitalization cost; infant disease/di [Diagnosis]; infant disease/dm [Disease Management]; rapid whole genome sequencing; whole genome sequencing; acutely ill patient; diagnostic test accuracy study; diagnostic value; genetic screening; mortality risk; risk reduction; sensitivity and specificity
Genetic disorders are a leading cause of morbidity and mortality in infants. Rapid whole-genome sequencing (rWGS) can diagnose genetic disorders in time to change acute medical or surgical management (clinical utility) and improve outcomes in acutely ill infants. We report a retrospective cohort study of acutely ill inpatient infants in a regional children's hospital from July 2016-March 2017. Forty-two families received rWGS for etiologic diagnosis of genetic disorders. Probands also received standard genetic testing as clinically indicated. Primary end-points were rate of diagnosis, clinical utility, and healthcare utilization. The latter was modelled in six infants by comparing actual utilization with matched historical controls and/or counterfactual utilization had rWGS been performed at different time points. The diagnostic sensitivity of rWGS was 43% (eighteen of 42 infants) and 10% (four of 42 infants) for standard genetic tests (P =.0005). The rate of clinical utility of rWGS (31%, thirteen of 42 infants) was significantly greater than for standard genetic tests (2%, one of 42; P =.0015). Eleven (26%) infants with diagnostic rWGS avoided morbidity, one had a 43% reduction in likelihood of mortality, and one started palliative care. In six of the eleven infants, the changes in management reduced inpatient cost by $800,000-$2,000,000. These findings replicate a prior study of the clinical utility of rWGS in acutely ill inpatient infants, and demonstrate improved outcomes and net healthcare savings. rWGS merits consideration as a first tier test in this setting.
Farnaes L; Hildreth A; Sweeney NM; Clark MM; Chowdhury S; Nahas S; Cakici JA; Benson W; Kaplan RH; Kronick R; Bainbridge MN; Friedman J; Gold JJ; Ding Y; Veeraraghavan N; Dimmock D; Kingsmore SF
NLJ Genomic Medicine
2018
<a href="http://doi.org/10.1038/s41525-018-0049-4" target="_blank" rel="noreferrer noopener">10.1038/s41525-018-0049-4</a>
Increasing accurate palliative care consultation in the NICU
caregiver; child; conference abstract; controlled study; human; International Classification of Diseases; length of stay; mortality risk; newborn; nurse practitioner; outcome assessment; palliative therapy; patient referral; satisfaction; staff training; total quality management
Background: NICU length of stay (LOS) data revealed patient outliers with significantly longer LOS and concomitant increased risk of mortality. Baseline data revealed under-utilization of Pediatric Palliative Care (PPC) consultative services in this population. We desired that those at highest risk of extended LOS with associated mortality receive early PPC consultation. Our multidisciplinary quality improvement project aimed to increase PPC consultation for NICU patients with a life-limiting anomaly identified by trigger-list tool to 80% within one year.
Humphrey L; Schlegel A
Pediatrics
2018
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Palliative care utilization in hospitalized children with cancer
aged; article; brain cancer; cancer model; child; Childhood cancer; cohort analysis; controlled study; female; hospital admission; hospital cost; hospital mortality; hospitalization; hospitalized child; human; human tissue; length of stay; major clinical study; male; mortality risk; palliative therapy; physician; public health; resource allocation
Background: There is growing evidence that palliative care (PC) is associated with increased quality of life in children with cancer. Despite increasing recommendations in support of PC to improve pediatric oncology care, little is known about its patterns of use.
Cheng B T; Wangmo T
Pediatric Blood and Cancer
2020
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1002/pbc.28013" target="_blank" rel="noreferrer noopener">10.1002/pbc.28013</a>
Survival, short-term morbidity of extremely low gestational age infants and their predictors
Infant; sepsis; cohort analysis; controlled study; female; human; male; retrospective study; perception; palliative therapy; Pregnancy; stillbirth; gender; necrotizing enterocolitis; clinical article; gestational age; neonatal intensive care unit; prevalence; infant; conference abstract; birth weight; corticosteroid; length of stay; mortality risk; Gestational Age; brain hemorrhage; regression analysis; univariate analysis; survival prediction; encephalomalacia; morbidity; lung dysplasia; probability; retrolental fibroplasia
BACKGROUND: Despite advances in neonatal care for extremely low gestational age (ELGA) infants, they experience high rates of mortality and morbidity. Local data on survival, predictors, and outcomes of ELGA infants is crucial in order to provide accurate antenatal counseling. <br/>OBJECTIVE(S): To determine the survival and morbidities of ELGA infants in our region stratified by gestational age. DESIGN/METHODS: We performed a retrospective cohort study of infants born at <26 weeks gestational age who received intensive care at two level III Neonatal Intensive Care Units between January 1st 2014 and December 31st 2017. We excluded stillbirths and infants who received only palliative care from birth. Outcomes included survival to discharge home (or transfer to another center), length of admission, and the following short-term morbidities: intraventricular hemorrhage (IVH) grade III - IV, periventricular leukomalacia (PVL), bronchopulmonary dysplasia (BPD), necrotizing enterocolitis (NEC) Bell's Stage >=2, late-onset sepsis, and retinopathy of prematurity (ROP) requiring treatment. A multivariable regression analysis was performed to analyze three factors identified as significant (p<.05) on univariate analysis. <br/>RESULT(S): 117 infants were included: 8 infants at 22 weeks, 20 at 23 weeks, 38 at 24 weeks, and 51 at 25 weeks. The rates of survival were 37.5%, 50.0%, 68.4%, and 76.5% at 22, 23, 24, and 25 weeks, respectively. The probability of survival was similar for infants born at 22 and 23 weeks GA and significantly lower than for infants born at 24 and 25 weeks (fig.1). The mean (+/-SD) length of stay in the NICU was 114.6 +/- 33.7 days. The overall prevalence of short-term morbidities was 25.9% for IVH grade III - IV, 5.4% for PVL, 89.9% for BPD, 16.1% for NEC, 40.0% for late-onset sepsis, and 19.3% for ROP requiring treatment. Only 2.7% of infants who survived >=36 weeks (post-menstrual age) had no short-term morbidities. The multivariable regression analysis demonstrated: an increased risk of mortality for every 100g decrease in birth weight (OR=1.97; 95% CI: 1.40 - 1.98; p =.02), an increased risk of mortality for an incomplete course of antenatal corticosteroids (OR=1.58; 95% CI: 1.2 - 1.78; p =.008), and no effect of gender on mortality over time (OR=1.38; 95% CI: 0.8 - 1.68; p=.15). <br/>CONCLUSION(S): ELGA infants from our region faced similarly high rates of mortality and major short-term morbidity compared to other Canadian centers. Infants born at 22 and 23 weeks experienced similar survival trajectories, which should be further explored as it may influence clinical perceptions of viability at 22 weeks. (Figure Presented).
Kis H; Lemyre B; Radonjic A; Feberova J
Paediatrics and Child Health
2019
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1093/pch/pxz066.129" target="_blank" rel="noreferrer noopener">10.1093/pch/pxz066.129</a>