A Systematic Review on the Cost-Effectiveness of Genetic and Electrocardiogram Testing for Long QT Syndrome in Infants and Young Adults

Gonzalez, Fernando Matias; Veneziano, Maria Assunta; Puggina, Anna; Boccia, Stefania

doi:10.1016/j.jval.2015.03.1788

Cited by 12 publications

(10 citation statements)

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“…The prevalence of an allele of interest influences the positive predictive value of the genetic test (Ademi et al 2017; Alagoz et al 2016; D’Andrea et al 2016; Gonzalez et al 2015; Grosse 2015; Ke et al 2017; Lee et al 2014; Moretti et al 2017; Naylor et al 2014; Plothner et al 2016; Ruiz-Iruela et al 2016; Snowsill et al 2017). This, therefore, increases the effectiveness of “cascade” screening programs where, for example, an individual is identified by clinical prescreening as having an increased risk of having the allele/mutation (Ademi et al 2014; Lazaro et al 2017).…”

Section: Resultsmentioning

confidence: 99%

Cost-effectiveness of precision medicine: a scoping review

Kasztura

Richard

Bempong

et al. 2019

Int J Public Health

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ObjectivesPrecision medicine (PM) aims to improve patient outcomes by stratifying or individualizing diagnosis and treatment decisions. Previous reviews found inconclusive evidence as to the cost-effectiveness of PM. The purpose of this scoping review was to describe current research findings on the cost-effectiveness of PM and to identify characteristics of cost-effective interventions. MethodsWe searched PubMed with a combination of terms related to PM and economic evaluations and included studies published between 2014 and 2017. ResultsA total of 83 articles were included, of which two-thirds were published in Europe and the USA. The majority of studies concluded that the PM intervention was at least cost-effective compared to usual care. However, the willingness-to-pay thresholds varied widely. Key factors influencing cost-effectiveness included the prevalence of the genetic condition in the target population, costs of genetic testing and companion treatment and the probability of complications or mortality.ConclusionsThis review may help inform decisions about reimbursement, research and development of PM interventions.Electronic supplementary materialThe online version of this article (10.1007/s00038-019-01298-x) contains supplementary material, which is available to authorized users.

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Section: Resultsmentioning

confidence: 99%

Cost-effectiveness of precision medicine: a scoping review

Kasztura

Richard

Bempong

et al. 2019

Int J Public Health

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“…Several groups have since supported ECG screening in infancy to prevent LQTS-related death [ 7 , 8 , 29 – 32 ]. The estimated prevalence of LQTS is 1:2,000 [ 28 ].…”

Section: Discussionmentioning

confidence: 99%

A Neonate with Susceptibility to Long QT Syndrome Type 6 who Presented with Ventricular Fibrillation and Sudden Unexpected Infant Death

Sauer

Marc-Aurele

2016

Am J Case Rep

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Patient: Female, 19-dayFinal Diagnosis: 19 day old neonate with susceptibility to Long QT syndrome • ventricular fibrillationSymptoms: Cardiac arrest • cardiac arrhythmia • encephalopathyMedication: —Clinical Procedure: CardioversionSpecialty: Pediatrics and NeonatologyObjective:Rare diseaseBackground:This is a case of a neonate with susceptibility to long QT syndrome (LQTS) who presented with a sudden unexpected infant death. Experts continue to debate whether universal electrocardiogram (ECG) screening of all newborns is feasible, practical, and cost-effective.Case Report:A 19-day-old neonate was found unresponsive by her mother. ECG showed ventricular fibrillation and a combination of a lidocaine drip plus multiple defibrillations converted the rhythm to normal sinus. Unfortunately, MRI brain imaging showed multiple infarcts and EEG showed burst suppression pattern with frequent seizures; life supportive treatment was stopped and the infant died. Genetic testing revealed two mutations in the KCNE2 gene consistent with susceptibility to LQTS type 6.Conclusions:We believe this case is the first to demonstrate both a precipitating electrocardiographic and genetic cause of death for an infant with LQTS, showing a cause-and-effect relationship between LQTS mutation, ventricular arrhythmia, and death. We wonder whether universal ECG newborn screening to prevent LQTS death could have saved this baby.

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“…The list consists of 35 items. The weighted version was used in the previous studies [8, 9] and assigns a maximum overall score of 119 (maximum scores of 26 for study design, 48 for analysis and interpretation of results, and 45 for data collection).…”

Section: Methodsmentioning

confidence: 99%

A Systematic Literature Review on the Cost-Effectiveness of Apixaban for Stroke Prevention in Non-valvular Atrial Fibrillation

Pinyol¹,

Cepeda

Roldán

et al. 2016

Cardiol Ther

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IntroductionEconomic evaluations are becoming increasingly important due to limitations in economic resources, the expense of many new treatments, the need to allocate health spending as effectively as possible, and the need to inform decision makers. Based on the data from the apixaban studies (ARISTOTLE and AVERROES), several economic evaluations have been performed in various countries to demonstrate the efficacy of apixaban versus warfarin and aspirin or other new oral anticoagulants (NOACs) for preventing stroke in patients with non-valvular atrial fibrillation (NVAF).The aim of this study was to perform a systematic literature review of published economic evaluations with apixaban in the indication of stroke prevention in patients with NVAF.MethodsA search in PubMed, Cochrane Library, Google Scholar, and Index Medicus Español was conducted in June 2015. Inclusion and exclusion criteria were established. The main characteristics were recorded for all relevant articles after being reviewed. In addition, a weighted version of the Drummond’s checklist was used to further assess the quality of the selected studies.ResultsAfter review, 26 cost-effectiveness analyses through Markov models were included; the identified economic evaluations represent different willingness-to-pay (WTP) thresholds, discount rates, medical costs, and healthcare systems. Apixaban was compared with warfarin/acenocoumarol in 7 of them (27%), with warfarin/NOACs in 14 (54%), with aspirin in 2 (8%), and with warfarin/aspirin in 3 (11%). Models were conducted from Europe (69%), USA (23%), Australia (4%), and Latin America (4%). All models reported cost/quality-adjusted life years (QALYs) gained, 92% reported using a payer perspective, and 8% using a societal perspective; the median quality score of the selected studies was 89 (out of 119), with a range of 55–103. In models performed in Europe, incremental cost-effectiveness ratios (ICERs) of apixaban versus warfarin ranged from €5607/QALY to €57,245/QALY, while ICERs versus aspirin ranged from being dominant to €7334/QALY. In models carried out in the USA, ICERs of apixaban versus warfarin ranged from being dominant to $93,063/QALY.ConclusionDifferent cost-effectiveness analyses suggest that apixaban is a cost-effective therapeutic option according to the WTP thresholds used in countries where cost-effectiveness analyses, were performed.FundingBMS and Pfizer.Electronic supplementary materialThe online version of this article (doi:10.1007/s40119-016-0066-2) contains supplementary material, which is available to authorized users.

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A Systematic Review on the Cost-Effectiveness of Genetic and Electrocardiogram Testing for Long QT Syndrome in Infants and Young Adults

Cited by 12 publications

References 51 publications

Cost-effectiveness of precision medicine: a scoping review

Cost-effectiveness of precision medicine: a scoping review

A Neonate with Susceptibility to Long QT Syndrome Type 6 who Presented with Ventricular Fibrillation and Sudden Unexpected Infant Death

A Systematic Literature Review on the Cost-Effectiveness of Apixaban for Stroke Prevention in Non-valvular Atrial Fibrillation

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