Accounting for Intergenerational Cascade Testing in Economic Evaluations of Clinical Genomics: A Scoping Review

ObjectivesClinical genomics is emerging as a diagnostic tool in the identification of blood relatives at risk of developing heritable diseases. Our objective was to identify how genetic cascade screening has been incorporated into health economic evaluations.MethodsA scoping review was conducted to identify how multiple generations of a family were included in economic evaluations of clinical genomic sequencing, how many and which relatives were included, and uptake rates. Databases were searched for full economic evaluations of genetic interventions that screened multiple generations of families and were in English language, and no restrictions were made for disease or publication type. Data were synthesized using a narrative approach.ResultsTwenty-five studies were included covering a range of diseases in various countries. Markov cohort models were mostly used with hypothetical populations and unsupported by clinical evidence. Cascade testing was either the primary intervention or secondary to the index cases. The number and type of relatives were based on assumptions or identified through population or family records, clinical registry data, or clinical literature. Studies included only immediate family members and the uptake of testing ranged between 20% and 100%. All interventions were reported as cost-effective, and a higher number of relatives was a key driver.ConclusionsSeveral economic evaluations have considered the impacts of cascade testing interventions within clinical genomics. Ideally, models supported with high-quality clinical data are needed and, in their absence, transparent and justifiable assumptions of uptake rates and choices about including relatives. Consideration of more appropriate modeling types is required.     

基于倾向性匹配法的胆囊结石合并慢性胆囊炎手术DRG控费效果研究

目的 基于倾向性匹配分析疾病诊断相关分组（DRG）对胆囊结石合并慢性胆囊炎手术患者住院费用的控费效果。方法 收集2021年1月至2022年12月安徽医科大学第一附属医院1 010例胆囊结石合并慢性胆囊炎手术患者住院费用数据,按付费方式分为DRG组（n=570）和非DRG组（n=440）。采用描述性统计分析、倾向性评分法、秩和检验,平衡病例间混杂因素后,检验DRG组和非DRG组住院费用情况。结果 共纳入1 010例病例,经倾向性匹配成功852例。胆囊结石合并慢性胆囊炎患者DRG组与非DRG组年龄、住院天数在匹配前差异有统计学意义（P<0.05）。患者住院费用中,耗材费、药费占比较高。经倾向性匹配后,DRG组与非DRG组住院总费用（Z=7.519,P<0.001）、自费金额（Z=13.903,P<0.001）、医保报销费用（Z=11.561,P<0.001）、综合医疗服务费（Z=2.188,P=0.029）、手术费（Z=2.256,P=0.024）、药费（Z=3.202,P=0.001）、耗材费（Z=2.229,P=0.026）、诊断费（Z=8.263,P<0.001）差异均有统计学意义。结论 DRG对胆囊结石合并慢性胆囊炎患者自费金额、综合医疗服务费、手术费、药费、耗材费及诊断费均具有控费效果,且总体对住院费用控费效果较好,但费用结构方面仍存在优化空间。     

上海市单中心儿科门诊特征和医疗服务2009至2018年趋势分析

目的 探索医院信息系统(HIS)医疗大数据处理方法,分析儿童专科医院近10年门诊患儿就诊特征及医疗服务趋势。方法 以复旦大学附属儿科医院(我院)HIS门诊患儿就诊挂号登记表的全样本数据为基础,系统地进行数据清洗(诊断、地址、重复、离群、缺失)、数据集成(数据库链接和匹配)、数据规约、数据脱敏和数据核查,行门诊患儿就诊特征及医疗服务趋势的分析。结果 2009至2018年我院门诊挂号20 775 899人次,依据纳入和剔除标准,18 242 822 人次进入本文分析;男性占57.42%,婴儿占9.57%,幼儿占40.94%,学龄前儿童占24.82%,学龄儿童占24.67%。诊断缺失率为5.92%,地址缺失率为45.31%,接诊医生姓名缺失率为26.81%,行缺失数据人群分析,各年份性别和年龄构成比差别不大。10年间门诊量年平均增长5.22%,2012较2011年增长11.22%,2014较2013年增长10.93%,2015年后环比增长均<2.90%。10年间不同年份各省市门诊量>P₇₅ 和~P₅₀的省市,从华东向西南、西北、华南、中部、东北扩大。10年间门诊医生平均日接诊51人次,初、中和高级职称医生门诊日均接诊分别63、54和45人次;专科门诊从2009年的46个发展为2018年的180个,2018年专科就诊比例达68.12%,专病门诊从2009年的16个发展为2018年的142个。结论 基于国家儿童医学中心之一的我院的门诊数据表明,10年间门诊量先快速增长后平稳增长,患儿来源地区快速从华东地区辐射至全国,门诊医生平均日接诊数量低于全国平均水平,专科门诊和专病门诊成为重要的发展趋势。     

Fulfilling the psychological and information need of the family members of critically ill patients using interactive mobile technology: A randomised controlled trial

BackgroundIntensive care nurses may have an important role in empowering families by providing psychological support and fulfilling the family's pivotal need for information.AimTo determine whether ‘education of families by tab’ about the patient’s condition was more associated with improved anxiety, stress, and depression levels than the ‘education of families by routine’.Research designA randomized control trial of 74 main family caregivers (intervention: 39; control: 35).SettingAn adult intensive care unit.Main outcome measuresDepression Anxiety Stress Scale, and Communication and Physical Comfort Scale.ResultsAlthough information need satisfaction was not significantly different between intervention and control groups, the former reported significantly better depression score on Depression Anxiety Stress Scale comparing to the control group (p < 0.01; η² = 0.09) with a medium effect size. Reduction of anxiety in the intervention group were clinically significant.ConclusionThe results suggest that use of ‘education of family by tab’ is promising for intensive care nurses to provide psychological support for family members. More studies are needed to investigate this aspect of family care for better psychological support and information need satisfaction that contributes to the evidence-based practice of intensive care nursing.     

In vivo and in vitro methods for evaluating soil arsenic bioavailability: relevant to human health risk assessment

Arsenic (As) is the most frequently occurring contaminant on the priority list of hazardous substances, which lists substances of greatest public health concern to people living at or near U.S. National Priorities List site. Accurate assessment of human health risks from exposure to As-contaminated soils depends on estimating its bioavailability, defined as the fraction of ingested As absorbed across the gastrointestinal barrier and available for systemic distribution and metabolism. Arsenic bioavailability varies among soils and is influenced by site-specific soil physical and chemical characteristics and internal biological factors. This review describes the state-of-the science that supports our understanding of oral bioavailability of soil As, the methods that are currently being explored for estimating soil As relative bioavailability (RBA), and future research areas that could improve our prediction of the oral RBA of soil As in humans. The following topics are addressed: (1) As soil geochemistry; (2) As toxicology; (3) in vivo models for estimating As RBA; (4) in vitro bioaccessibility methods; and (5) conclusions and research needs.     

Febrile convulsions increase risk of Tourette syndrome

PurposeFebrile convulsion (FC) and Tourette syndrome (TS) are both common neurological disorders in infants and children. Both disorders share clinical similarities, such as paroxysmal symptoms with normal neurodevelopment and expected remission over time. This population-based study investigated the association between FC with TS during childhood neurodevelopment.MethodWe used the Taiwan National Health Insurance Research Database to conduct a retrospective cohort analysis on 1586 FC patients. A reference cohort of 6344 non-FC patients, matched for age, sex, urbanization level, parental occupation, and index year, was used for comparison. The risk of the occurrence of TS in FC patients was assessed using a Cox proportional hazard regression model.ResultsThe overall incidence of TS was higher in the FC cohort than in the non-FC cohort (28.5 vs 13.9 per 10,000 person-years; adjusted hazard ratio = 1.91, 95% confidence interval = 1.32–2.75). The associated risk factors for FC patients to develop TS were boys, children living in rural areas, and children whose parents held blue-collar positions. Moreover, the risk of TS in FC patients rose from 0.89 to 16.0 (trend test P < 0.0001) when the frequency of FC-related medical visits increased from 1 to 2 times to more than 4 times. The adjusted hazard ratio for TS in related to FC-related medical visits was 1.02 (95% CI = 1.02–1.03) per one frequency increment.ConclusionFC may increase the risk of subsequent TS occurrence in children. Children who had frequent medical visits for FC were particularly vulnerable.