Hla-B*57

Ruiz-Iruela, Cristina; Padullés-Zamora, Núria; Podzamczer-Palter, Daniel; Alonso-Pastor, Arnald; Candás-Estébanez, Beatriz; Alía-Ramos, Pedro; Padró-Miquel, Ariadna

doi:10.1097/fpc.0000000000000229

Cited by 14 publications

(4 citation statements)

References 20 publications

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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%

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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%

“…The cost of treatment, if the treatment is a “companion” treatment, also influences the cost-effectiveness of PM (Buchanan et al 2017; Horster et al 2017; Jahn et al 2015; Lim et al 2016; Ruiz-Iruela et al 2016). A companion treatment is marketed together with a specific genetic test.…”

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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“…Following randomized control trials, it was shown that expression of HLA-B∗57:01 has a 100% negative predictive value and a 47.9% positive predictive value for the development of abacavir hypersensitivity [22]. Genotype screening for HLA-B∗57:01 was therefore approved clinically by regulatory authorities after findings demonstrated that screening for this allele could effectively eliminate the incidence of hypersensitivity reactions [23,24]. Likewise, the food and drug administration has recommended screening for HLA-B∗15:02 in south east Asian patients where carbamazepine treatment is indicated due to an association with the development of SJS/TEN [12,25,26].…”

Section: The Heterogenous Nature Of Drug Hypersensitivity Reactionsmentioning

confidence: 99%

Pathology of T-cell-mediated drug hypersensitivity reactions and impact of tolerance mechanisms on patient susceptibility

Line

Thomson

Naisbitt

2022

Current Opinion in Allergy &Amp; Clinical Immunology

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Purpose of reviewT-cell-mediated drug hypersensitivity is responsible for significant morbidity and mortality, and represents a substantial clinical concern. The purpose of this article is to focus on T-cell reactions and discuss recent advances in disease pathogenesis by exploring the impact of tolerance mechanisms in determining susceptibility in genetically predisposed patients. Recent findingsCertain drugs preferentially activate pathogenic T cells that have defined pathways of effector function. Thus, a critical question is what extenuating factors influence the direction of immune activation. A large effort has been given towards identifying phenotypic (e.g., infection) or genotypic (e.g., human leukocyte antigen) associations which predispose individuals to drug hypersensitivity. However, many individuals expressing known risk factors safely tolerate drug administration. Thus, mechanistic insight is needed to determine what confers this tolerance. Herein, we discuss recent clinical/mechanistic findings which indicate that the direction in which the immune system is driven relies upon a complex interplay between co-stimulatory/co-regulatory pathways which themselves depend upon environmental inputs from the innate immune system.

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“…[77,78] One example of a PGx test with wide support is the HLA-B*57 for patients to be prescribed the drug abacavir. [79] While evidence is accumulating regarding clinical benefit for several types of genomic applications, the paucity of studies is a major factor influencing coverage decisions. [80] The cost-effectiveness of PGx testing for some patients has not been demonstrated [81] or in some cases, testing may only be cost-effective in high-risk patient populations.…”

Section: Barriers To Test Utilizationmentioning

confidence: 99%

Integrating pharmacogenetic testing into primary care

Haga

2017

Expert Review of Precision Medicine and Drug Development

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Introduction Pharmacogenetic (PGx) testing has greatly expanded due to enhanced understanding of the role of genes in drug response and advances in DNA-based testing technology development. As many primary care visits result in a prescription, the use of PGx testing may be particularly beneficial in this setting. However, integration of PGx testing may be limited as no uniform approach to delivery of tests has been established and providers are ill-prepared to integrate PGx testing into routine care. Areas covered In this paper, the readiness of primary care practitioners are reviewed as well as strategies to address these barriers based on published research and ongoing activities on education and implementation of PGx testing. Expert Commentary Widespread integration of PGx testing will warrant continued education and point-of-care decisional support. Primary care providers may also benefit from consultation services or team-based care with laboratory medicine specialists, pharmacists, and genetic counselors.

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Hla-B*57

Abstract: Retrospective data from 5 years of experience have confirmed the cost-effectiveness of the systematic genotyping in candidate patients for ABC therapy, and have shown that cost-effectiveness is a dynamic parameter closely linked to allele prevalence and pharmacological therapy costs.

Cited by 14 publications

References 20 publications

Cost-effectiveness of precision medicine: a scoping review

Cost-effectiveness of precision medicine: a scoping review

Pathology of T-cell-mediated drug hypersensitivity reactions and impact of tolerance mechanisms on patient susceptibility

Integrating pharmacogenetic testing into primary care

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