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Wendy J Ungar

Publications and source records attributed to Wendy J Ungar.

At least 19 recordsLinked to original sources
PubMed2025

Comparing the performance of exome and genome sequencing for rare disease diagnostics: A randomized implementation effectiveness trial.

PURPOSE: Exome sequencing (ES) and genome sequencing (GS) can improve rare disease diagnosis but are not routinely available in many jurisdictions. To inform implementation, we report on a randomized implementation effectiveness trial comparing ES and GS. METHODS: Eligible trios were randomized to receive ES or GS in the same clinically accredited laboratory. Patient-level data on diagnostic utility and turnaround times were collected. Outcomes were compared statistically between clinically important subgroups. RESULTS: Of 1048 patients, 68.5% had syndromic intellectual disability/developmental delay (ID/DD) and 20.5% had multisystem disorders without ID/DD. Most had prior genetic test(s) that were nondiagnostic (95.5%), and of these, 91.6% included chromosome microarray. Diagnostic yields were 33.8% and 33.6%, for ES (n = 526) and GS (n = 522), respectively. Within sequencing groups, diagnostic results were more frequent among those with ID/DD than those without (P < .005). For routine (ie, nonexpedited) patients (n = 1020), 87.0% were reported in <12 weeks, and the mean turnaround time was 55.5 days (SD: 24.0). Turnaround time for ES and GS did not differ; however, result type (P < .001) and age of onset (P < .005) significantly affected turnaround time. CONCLUSION: Findings provide robust evidence of diagnostic utility and timeliness of ES and GS and will inform policy related to the organization, delivery, and reimbursement of clinical-grade genome diagnostics for rare diseases.

Adolescent↗
PubMed2025

A microcosting and cost consequence analysis from a randomized controlled trial comparing genome sequencing with exome sequencing for genetic diagnosis.

PURPOSE: Diagnosing rare diseases is costly. The objectives were to microcost exome (ES) and genome sequencing (GS) trios and estimate the incremental costs of GS per additional diagnosis from an institutional payer perspective. METHODS: Trios (proband plus biological parents) that are referred for sequencing were randomly assigned to ES or GS. Laboratory workflow and sequencing were microcosted. Total and category cost per trio were estimated probabilistically. Effectiveness was expressed as diagnostic yield (rates of diagnostic or partially diagnostic variants detected). Incremental costs and effectiveness were calculated. RESULTS: The mean total cost per trio was CAD 2888.79 (95% CI 2567.72, 3492.72) for ES (n = 329) and 4364.02 (95% CI 3984.94, 5013.67) for GS (n = 324). Reagents accounted for 34% and 61% of total costs for ES and GS, respectively. The incremental cost of GS was 1475.23. The diagnostic yield was 35.9% for ES and 32.7% for GS with a difference of 0.032 (95% CI: -0.041, 0.104, P value .397). CONCLUSION: GS demonstrated higher costs and a similar diagnostic yield to ES but was limited by technical capabilities at the time of the study. The study provides comprehensive costs for the economic evaluation comparing alternative diagnostic pathways and impetus for further evaluating variants uniquely detectable by GS.

Humans↗
PubMed2025

The Clinician-reported Genetic Testing Utility InDEx for Neonatal Intensive Care (C-GUIDE NICU): Quantifying genome-wide sequencing utility in the NICU.

PURPOSE: Use of genomic sequencing (GS) in neonatal intensive care units (NICUs) has increased with improved diagnostic yield. However, uncertainty persists regarding when and for whom GS is most useful. Because a standardized approach to assessing utility is lacking, we developed a novel version of the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) to quantify the utility of GS in NICUs. METHODS: Informed by a scoping review, we developed a draft C-GUIDE NICU tool to quantify utility, which underwent iterative revisions through feedback from clinician interviews and questionnaires on item relevance, comprehensibility, and comprehensiveness. We finalized the expert-informed C-GUIDE NICU using an international Delphi consensus process. RESULTS: Scoping review (n = 25 articles) and interviews (n = 21) revealed key themes of utility. Guided by qualitative feedback and item scoring, C-GUIDE was iteratively reduced to include 21, 18, and 14 items. The Delphi consensus process with 22 experts achieved item consensus and stability, yielding a final 10-item tool. CONCLUSION: Using a rigorous process, we developed a consensus-based standardized method for capturing the clinical utility of GS in NICUs. C-GUIDE NICU can be used by clinicians, researchers, and payers to assess GS value to patient care and will be available for licensed use following reliability and validity testing.

Humans↗
PubMed2006

The effectiveness of Teratology Information Services (TIS).

BACKGROUND: Women and their health care providers have few reliable sources of information regarding the safety of exposures in pregnancy and lactation. Evidence-based information on these topics is provided by Teratology Information Services (TIS). Access to TIS, however, is limited in many regions, and many services have difficulty maintaining ongoing funding. The objective of this review is to highlight published reports of the effectiveness of TIS in improving maternal and neonatal health. METHODS: A search of the Pub Med and Econ Lit databases was performed with no date restriction, using the search terms teratology, information, counseling, pregnancy, effectiveness, birth defects. RESULTS: Information disseminated from TIS has been shown to prevent congenital malformations, unnecessary pregnancy terminations, and occupational risks. TIS support optimal nutritional supplementation in pregnancy and optimal drug therapy in pregnancy and breast-feeding. In addition, they correct misperceptions of risk and facilitate knowledge transfer and translation. TIS have the potential to provide health care cost savings. CONCLUSIONS: TIS are vital services in supporting optimal maternal and neonatal health. A formal economic evaluation of TIS is required in order to inform resource allocation decision-making and continued funding of these services.

Abnormalities, Drug-Induced↗
PubMed2006

Health-related quality of life of Canadian children and youth prenatally exposed to alcohol.

BACKGROUND: In Canada, the incidence of Fetal Alcohol Spectrum Disorder (FASD) has been estimated to be 1 in 100 live births. Caused by prenatal exposure to alcohol, FASD is the leading cause of neuro-developmental disabilities among Canadian children, and youth. OBJECTIVE: To measure the health-related quality of life (HRQL) of Canadian children and youth diagnosed with FASD. METHODS: A prospective cross-sectional study design was used. One-hundred and twenty-six (126) children and youth diagnosed with FASD, aged 8 to 21 years, living in urban and rural communities throughout Canada participated in the study. Participants completed the Health Utilities Index Mark 3 (HUI3). HUI3 measures eight health attributes: vision, hearing, speech, ambulation, dexterity, emotion, cognition, and pain. Utilities were used to measure a single cardinal value between 0 and 1.0 (0 = all-worst health state; 1 = perfect health) to reflect the global HRQL for that child. Mean HRQL scores and range of scores of children and youth with FASD were calculated. A one-sample t-test was used to compare mean HRQL scores of children and youth with FASD to those from the Canadian population. RESULTS: Mean HRQL score of children and youth with FASD was 0.47 (95% CI: 0.42 to 0.52) as compared to a mean score of 0.93 (95% CI: 0.92 to 0.94) in those from the general Canadian population (p < 0.001). Children demonstrated moderate to severe dysfunction on the single-attributes of cognition and emotion. CONCLUSION: Children and youth with FASD have significantly lower HRQL than children and youth from the general Canadian population. This finding has significant implications for practice, policy development, and research.

Adolescent↗
PubMed2006

A qualitative analysis of a dyad approach to health-related quality of life measurement in children with asthma.

The measurement of health-related quality of life (HRQOL) in children often relies on parents as proxy respondents. Yet, several studies have shown poor to moderate correlations between parent and child responses, questioning the validity of the parent as proxy. This qualitative study examined a dyad approach, where parent and child were interviewed together. The objective was to observe and describe the interaction in a dyad interview, wherein both parent and child perspectives are used and where the parent may expand the child's cognitive abilities to create a more meaningful description of the child's HRQOL. Children aged 8-15 years with a clinical diagnosis of asthma and their primary caregivers were recruited from The Hospital for Sick Children, Toronto, Canada. The dyads were administered the Health Utilities Index Mark II/III, the Pediatric Asthma Quality of Life Questionnaire and the PedsQL Pediatric Quality of Life Inventory. Interviews were audio-taped and a second researcher recorded observations. Consistent with Grounded Theory methodology, observations were indexed according to categories and subcategories related to the response process. Data were analysed using open, axial and selective coding and constant comparison. Saturation was achieved at 16 dyad interviews. A cultural review and reflexive role taking were included to minimize interviewer bias and enhance rigour. Findings were grouped in the following 11 themes: recall difficulty, respondent bias, interviewer bias, frustration, coercion/parental influence, inter-relational conflict, psychic discomfort for health states, emotional sensitivity, parent as advocate, parent as enabler and comprehension. The specification of these categories facilitated the creation of an interview guide to accompany the administration of standardized HRQOL questionnaires to parent-child dyads. Such a guide would facilitate discussion between parent and child and enhance the consistency of the interview process.

Adolescent↗
PubMed2006

Evaluation of the ambulatory and home care record: Agreement between self-reports and administrative data.

OBJECTIVES: Although measuring the utilization of ambulatory and home-based healthcare resources is an essential component of economic analyses, very little methodological attention has been devoted to the development and evaluation of resource costing tools. This study evaluated a newly developed tool, the Ambulatory and Home Care Record (AHCR), which comprehensively evaluates costs incurred by the health system and care recipients and their unpaid caregivers. METHODS: The level of agreement between self-reports from 110 cystic fibrosis care recipients and administrative data was assessed for four categories of health services: home-based visits with healthcare professionals, ambulatory visits with healthcare professionals, laboratory and diagnostic tests, and prescription medications. RESULTS: Agreement between care recipients' reports on the AHCR and administrative data ranged from moderate (kappa = 0.41; 95 percent confidence interval, 0.16-0.61) for physician specialist visits to perfect (kappa = 1.0) for physiotherapy visits. CONCLUSIONS: By evaluating and standardizing a resource and costing tool, such as the AHCR, economic evaluations may be improved and comparisons of the resource implications for different services and for diverse populations are possible.

Adult↗
PubMed2006

Antibiotic treatment of wheezing in children with asthma: what is the practice?

OBJECTIVE: Antibiotics are not recommended for the treatment of wheezing in children with asthma, but little is known about their use. This study was undertaken to evaluate trends and determinants of antibiotic use in children with wheezing during the fiscal years 1995 through 2001. METHODS: Using the population-based health care and prescription databases in Manitoba, Canada, this descriptive study examined time trends in antibiotic prescription use for wheezing episodes in a population of children with asthma. The likelihood of receiving an antibiotic prescription according to child and physician characteristics also was determined. Annual population-based rates of antibiotic prescriptions for wheezing episodes were modeled by age and antibiotic class, using general estimating equations. The odds ratio for receiving an antibiotic prescription according to child demographics and physician factors was determined from hierarchical linear modeling. RESULTS: The antibiotic prescription rate for wheezing decreased by 28% from 708 prescriptions per 1000 children with asthma in 1995 to 511 prescriptions in 2001. Fifteen-fold increases in use were observed for broader spectrum macrolides in preschool children. Twenty-three percent of physician visits for wheezing resulted in an immediate antibiotic prescription, but this percentage increased to 64% for antibiotics that were received within 7 days of the episode. General practitioners prescribed antibiotics more often than did pediatricians. Physicians who were not trained in Canada or the United States were 40% more likely to prescribe antibiotics than their counterparts. CONCLUSIONS: Antibiotic use for wheezing in children declined in the 1990s, but the increased use of broader spectrum macrolides has implications for antibiotic resistance. A link between antibiotic prescribing and physician specialty and location of training identifies opportunities for intervention.

Adolescent↗
PubMed2006

Economic burden of ambulatory and home-based care for adults with cystic fibrosis.

OBJECTIVE: The purpose of this study was to measure costs associated with care for adults with cystic fibrosis, from a societal perspective. METHODS: Over a 4-week period, 110 participants completed the Ambulatory and Home Care Record, a self-administered data collection instrument that measures costs to the health system, costs to employers, care recipients' direct out-of-pocket expenditures, and time costs borne by care recipients and their family caregivers. Health system costs were based on the costs incurred through expenditures on physicians, hospital clinics, pharmaceuticals, and home care agencies. Out-of-pocket costs were obtained using self-reports by care recipients, and time losses were valued using the human capital approach. RESULTS: The annual mean societal costs of ambulatory care for cystic fibrosis was $Can29 885 per care recipient (year 2002 value). Time losses incurred by care recipients and their family caregivers accounted for the majority (72%) of these costs, and system costs accounted for the second highest percentage of costs (21%). Although almost all participants (109) recorded out-of-pocket expenditures, these costs accounted for only a small proportion (3%) of total costs. CONCLUSION: Measuring societal costs is necessary for practitioners, managers, and policy decision-makers, to ensure that care recipients and their families receive the necessary resources to provide care.

Adult↗
PubMed2005

Cost-effectiveness analysis of weekday and weeknight or weekend shifts for assessment of appendicitis.

BACKGROUND: Assessment of appendicitis during a weeknight or weekend shift (after-hours period, AHP) might be more costly and less effective than its assessment on a weekday shift (standard hours period, SHP) because of increased costs (staff premium fees) and perforation risk (longer delays and less experience of fellows). OBJECTIVES: The objectives were to compare the costs and effectiveness of assessing children with suspected appendicitis who required a laparotomy and had US or CT after-hours with those of assessing children during standard hours, and to evaluate the importance of diagnostic imaging (DI) within the overall costs. MATERIALS AND METHODS: We retrospectively microcosted resource use within six areas of a tertiary hospital (emergency [ED], diagnostic imaging (DI), surgery, wards, transport, and pathology) in a tertiary hospital. About 41 children (1.8-17 years) in the AHP and 35 (2.9-16 years) in the SHP were evaluated. Work shift effectiveness was measured with a histological score that assessed the severity of appendicitis (non-perforated appendicitis: scores 1-3; perforated appendicitis: score 4). RESULTS: The SHP was less costly and more effective regardless of whether the calculation included US or CT costs only. For a salary-based fee schedule, 733 US dollars were saved per case of perforated appendicitis averted in the SHP. For a fee-for-service payment schedule, 847 dollars were saved. Within the overall budget, the highest costs were those incurred on the ward for both shifts. The average cost per patient in DI ranged from 2 to 5% of the total costs in both shifts. Most perforation cases were found in the AHP (31.7%, AHP vs. 17.1%, SHP), which resulted in higher ward costs for patients in the AHP. CONCLUSION: A higher proportion of severe cases was seen in the AHP, which led to its higher costs. As a result, the SHP dominated the AHP, being less costly and more effective regardless of the fee schedule applied. The DI costs contributed little to the overall cost of the assessment of appendicitis.

Adolescent↗
PubMed2005

Cost-effectiveness analysis of medical documentation alternatives.

OBJECTIVES: The delay between patient discharge and the completion of the final discharge note have prompted hospitals to consider new information technologies. This study compared the relative cost-effectiveness of an automated medical documentation system to the current system in place at a Canadian hospital. There are significant expenditures associated with the choice of medical documentation system, yet the benefit to the patient population has not been studied. METHODS: A systematic review of the literature was carried out. Cost data for the current documentation system were obtained from the study hospital. The costs of purchasing the automated system were obtained from the manufacturer. Other resource cost implications of the automated system were estimated based on information obtained from the Centre for Applied Health Informatics at the study hospital. The outcome was determined to be the average time (days) between patient discharge and note completion. A cost-effectiveness analysis was conducted. Sensitivity analyses were used to determine the robustness of the results. RESULTS: The automated documentation system was associated with higher costs but better outcomes than the current system. The incremental cost-effectiveness ratio used for comparing the automated medical documentation system with the traditional system indicated that the incremental daily cost for decreasing a day in average note completion time per discharge note was 0.331 Canadian $/day over the study period (4 years). CONCLUSIONS: Although the automated documentation system was more expensive than the current system, it also provided qualitative benefits that were not considered in the cost-effectiveness analysis.

Automation↗
PubMed2005

Economic evaluation of ondansetron vs dimenhydrinate for prevention of postoperative vomiting in children undergoing strabismus surgery.

BACKGROUND: Although rarely life-threatening, postoperative vomiting (POV) is a distressing complication. The incidence of POV ranges from 34 to 90% in children undergoing strabismus surgery when antiemetics are not administered prophylactically. METHODS: In this study, a cost-consequence analysis (CCA) is used to estimate the economic benefit of ondansetron and dimenhydrinate as antiemetics administered prophylactically in children undergoing strabismus surgery. This retrospective study was conducted at The Hospital for Sick Children based on a review of 70 charts. RESULTS: Ondansetron was more effective with 45.3 POV-free patients (PFP) in an adjusted cohort of 100, while dimenhydrinate resulted in 38.2 PFP in an adjusted cohort of 100. The costs were significantly different between the two groups, CAD dollars 185.90 (+/-26.37, 95% CI, CAD dollars 173,89; CAD dollars 197.90) and CAD dollars 232.90 (+/-CAD dollars 66.84, 95% CI, CAD dollars 198.53; CAD dollars 267.27) per patient for ondansetron and dimenhydrinate, respectively. The length of stay in the postanesthetic care unit (PACU) represented over 97% of total costs, and the mean lengths of stay in the PACU for ondansetron and dimenhydrinate were significantly different, 3.43 and 4.41 h, respectively. CONCLUSION: This study should serve as a pilot for a large-scale investigation on the correlation between the length of stay in the PACU and the antiemetic agent used.

Antiemetics↗
PubMed2005

Valuing patient and caregiver time: a review of the literature.

As healthcare expenditures continue to rise, financial pressures have resulted in a desire for countries to shift resources away from traditional areas of spending. The consequent devolution and reform have resulted in increased care being provided and received within homes and communities, and in an increased reliance on unpaid caregivers. Recent empirical work indicates that costs incurred by care recipients and unpaid caregivers, including time and productivity costs, often account for significant proportions of total healthcare expenditures. However, many economic evaluations do not include these costs. Moreover, when indirect costs are assessed, the methods of valuation are inconsistent and frequently controversial. This paper provides an overview and critique of existing valuation methods. Current methods such as the human capital method, friction cost method and the Washington Panel approach are presented and critiqued according to criteria such as potential for inaccuracy, ease of application, and ethical and distributional concerns. The review illustrates the depth to which the methods have been theoretically examined, and highlights a paucity of research on costs that accrue to unpaid caregivers and a lack of research on time lost from unpaid labour and leisure. To ensure accurate and concise reporting of all time costs, it is concluded that a broad conceptual approach for time costing should be developed that draws on and then expands upon theoretical work to date.

Caregivers↗
PubMed2005

Quality appraisal of pediatric health economic evaluations.

OBJECTIVES: This study was undertaken to appraise the quality of published pediatric economic evaluations. METHODS: Two independent reviewers appraised 149 randomly selected pediatric health economic studies. Data were collected from full economic evaluations published between 1980 and 1999. Economic evaluations of interventions, programs, and services aimed at neonates to adolescents were included. The Pediatric Quality Appraisal Questionnaire (PQAQ) was used for appraisal. The PQAQ is a 57-item instrument with 13 domains scored from 0 to 1 and one descriptive domain, each corresponding to a key aspect of health economic methodology. The primary outcome was the score for each domain. Additional analyses examined the global rating, the distribution of analytic technique, and the association between domain score and analytic technique. RESULTS: A total of 38 percent of publications were very good to excellent, whereas 43 percent were fair or worse. Although the Discounting, Target Population, Economic Evaluation, Conclusions, and Comparators domains exhibited good quality (0.74 to 0.78), the papers were of poor quality for Conflict of Interest, Incremental Analysis, and Perspective (0.32 to 0.39). Analytic technique was a significant predictor of quality for study design-related domains, with cost-utility analyses demonstrating the highest domain scores. CONCLUSIONS: Domains closely related to the elements of economic evaluation demonstrated medium to high quality. However, domains related to analysis fared poorly and are worthy of further methodological research to improve the use of health economic methods in children.

Adolescent↗
PubMed2004

The impact of SARS on a tertiary care pediatric emergency department.

BACKGROUND: The Greater Toronto Area (GTA) was considered a "hot zone" for severe acute respiratory syndrome (SARS) in 2003. In accordance with mandated city-wide infection control measures, the Hospital for Sick Children (HSC) drastically reduced all services while maintaining a fully operational emergency department. Because of the GTA health service suspensions and the overlap of SARS-like symptoms with many common childhood illnesses, this introduced the potential for a change in the volumes of patients visiting the emergency department of the only regional tertiary care children's hospital. METHODS: We compared HSC emergency department patient volumes, admission rates and length of stay in the emergency department in the baseline years of 2000-2002 (non-SARS years) with those in 2003 (SARS year). The data from the prior years were modeled as a time series. Using an interrupted time series analysis, we compared the 2003 data for the periods before, during and after the SARS periods with the modeled data for significant differences in the 3 aforementioned outcomes of interest. RESULTS: Compared with the 2000-2002 data, we found no differences in visits, admission rates or length of stay in the pre-SARS period in 2003. There were significant decreases in visits and length of stay (p < 0.001) and increases in admission rates (p < 0.001) during the periods in 2003 when there were new and active cases of SARS in the GTA. All 3 outcomes returned to expected estimates coincident with the absence of SARS cases from September to December 2003. INTERPRETATION: During the SARS outbreak in the GTA, the HSC emergency department experienced significantly reduced volumes of patients with low-acuity complaints. This gives insight into utilization rates of a pediatric emergency department during a time when there was additional perceived risk in using emergency department services and provides a foundation for emergency department preparedness policies for SARS-like public health emergencies.

Canada↗
PubMed2003

The Pediatric Economic Database Evaluation (PEDE) Project: establishing a database to study trends in pediatric economic evaluation.

BACKGROUND: While standard methods for conducting economic evaluations have evolved, little attention has been paid to the conduct of these studies in special populations such as children. OBJECTIVES: To build a database of pediatric economic evaluations and to examine trends in publication characteristics over a 20-year period. RESEARCH DESIGN: The database was created through a multisource search strategy, manual review, application of inclusion/exclusion criteria, data extraction, and reliability assessment. Descriptive statistics were used to summarize trends in publication volume, disease category, intervention type, and age group between 1980 and 1999. RESULTS: From an initial cut of 5600 citations identified from 12 journal databases, 787 were included as full pediatric economic evaluations. Volume of publications increased 7-fold between 1980 to 1984 and 1995 to 1999 from 61 to 440 citations per 5-year period. Most studies were performed in children aged 1 to 12 years, and studies in infants displayed an increasing frequency. The most common disease category was infective/parasitic, comprising 24% of studies. Studies of congenital anomalies and complications of pregnancy were also prominent. Although health prevention studies were the most prevalent, health treatment studies demonstrated an equal frequency in 1995 to 1999. Most studies consisted of malaria control and vaccination strategies for hepatitis B, Haemophilus influenzae type B, measles, and varicella. CONCLUSIONS: The number of pediatric economic evaluations is steadily increasing with most publications representing health prevention interventions. The Pediatric Economic Database Evaluation (PEDE) Project database will be valuable to health researchers working in methods research and conducting systematic reviews.

Age Distribution↗
PubMed2002

Assessment of a medication-based asthma index for population research.

Asthma management guidelines recommend the use of preventive medications in sufficient amounts to control asthma symptoms. The validity of a medication use index as a proxy for asthma severity has not been established. We recruited 1,279 Ontario adults with asthma or parents of children with asthma from a community-based surveillance program in 1995-96. Participants completed a telephone questionnaire at baseline, 3 and 6 mo. The questionnaire gathered information about asthma medication use, health care utilization, and symptoms. Asthma was classified as mild in 28%, moderate in 49%, or severe in 23% of patients based on the amount and types of medication used. There were significant differences among groups in health resource use such that adults with higher medication use visited primary care physicians and specialists more frequently, had pulmonary functions tests more frequently, and were admitted to hospital more frequently. The findings among children were similar. There were weak positive correlations between medication use and symptom frequency in adults and children. We conclude that a medication use index may be useful in population-based research where clinical asthma severity data are lacking. Such an index is distinct from but is related to disease control.

Adolescent↗