Incremental cost-effectiveness of algorithm-driven genetic testing versus no testing for Maturity Onset Diabetes of the Young (MODY) in Singapore

Nguyen, Hai; Finkelstein, Eric A.; Mital, Shweta; Gardner, Daphne Su‐Lyn

doi:10.1136/jmedgenet-2017-104670

Cited by 13 publications

(11 citation statements)

References 27 publications

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“…However, Nguyen et al's CEA of a similar testing strategy did not find the strategy costeffective (16). Major differences in study design explain the differences between these results.…”

Section: Sensitivity Analysesmentioning

confidence: 86%

“…Several studies have explored biomarker screening, including negative islet cell autoantibodies and positive C-peptide, to identify patients more likely to test positive for MODY (1,4,14,15). A CEA of MODY genetic testing based in Singapore found that the addition of biomarker screening prior to genetic testing lowered costs associated with screening but still resulted in an ICER above $50,000/QALY ($93,663) (16). More recently, a CEA applying massively parallel sequencing (MPS) to an Australian pediatric population of patients with presumed type 1 diabetes was found to be costsaving when compared to testing based on clinical suspicion (17).…”

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confidence: 99%

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The Impact of Biomarker Screening and Cascade Genetic Testing on the Cost-Effectiveness of MODY Genetic Testing

et al. 2019

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In the US, genetic testing for MODY is frequently delayed due to difficulty with insurance coverage. Understanding the economic implications of clinical genetic testing is imperative to advance precision medicine for diabetes. The objective of this paper is to assess the cost-effectiveness of genetic testing, preceded by biomarker screening and followed by cascade genetic testing of first-degree relatives, for subtypes of MODY in US pediatric patients with diabetes. Research Design and Methods: We used simulation models of distinct forms of diabetes to forecast the clinical and economic consequences of a systematic genetic testing strategy compared to usual care over a 30-year time horizon. In the genetic testing arm, patients with MODY received treatment changes (sulfonylureas for HNF1A-/HNF4A-MODY associated with a 1.0% reduction in HbA1c; no treatment for GCK-MODY). Study outcomes included costs, life expectancy (LE), and quality-adjusted life years (QALY). Results: The strategy of biomarker screening and genetic testing was cost-saving as it increased average quality of life (+0.0052 QALY) and decreased costs (-$191) per simulated patient relative to the control arm. Adding cascade genetic testing increased quality of life benefits (+0.0081 QALY) and lowered costs further (-$735). Conclusions: A combined strategy of biomarker screening and genetic testing for MODY in the US pediatric diabetes population is cost-saving compared to usual care, and the addition of cascade genetic testing accentuates the strategy's benefits. Widespread implementation of this strategy could improve the lives of patients with MODY while saving the health system money, illustrating the potential population health benefits of personalized medicine.

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“…However, Nguyen et al's CEA of a similar testing strategy did not find the strategy costeffective (16). Major differences in study design explain the differences between these results.…”

Section: Sensitivity Analysesmentioning

confidence: 86%

mentioning

confidence: 99%

The Impact of Biomarker Screening and Cascade Genetic Testing on the Cost-Effectiveness of MODY Genetic Testing

et al. 2019

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“…Treatment targeted to the genetic cause has been shown to result in improvements in glycemic control, fewer diabetes-related complications, and decreased cost and burden of treatment [20–23]. Studies have suggested that genetic testing for monogenic diabetes in appropriate populations is cost-effective [24, 25, 26••, 27]. Distinguishing between monogenic diabetes and type 1 or type 2 diabetes also has important implications with regard to surveillance of complications and associated extra-pancreatic disorders and identification of affected and at-risk family members [28–30].…”

Section: Therapeutic Implications Of Diagnosing Monogenic Diabetes Inmentioning

confidence: 99%

Monogenic Diabetes in Children and Adolescents: Recognition and Treatment Options

2018

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Monogenic forms of diabetes account for approximately 1-2% of diabetes in children and adolescents, and its incidence has increased in recent years due to greater awareness and wider availability of genetic testing. Monogenic diabetes is due to single gene defects that primarily affect beta cell function with more than 30 different genes reported. Children with antibody-negative, C-peptide-positive diabetes should be evaluated and genetically tested for monogenic diabetes. Accurate genetic diagnosis impacts treatment in the most common types of monogenic diabetes, including the use of sulfonylureas in place of insulin or other glucose-lowering agents or discontinuing pharmacologic treatment altogether. Diagnosis of monogenic diabetes can significantly improve patient care by enabling prediction of the disease course and guiding appropriate management and treatment.

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“…Another factor identified in our review as a barrier to cost-effectiveness of PM interventions is the high cost of some genetic tests (Ademi et al 2017; Alagoz et al 2016; Chong et al 2014; Green et al 2014; Grosse 2015; Martes-Martinez et al 2017; Naylor et al 2014; Nguyen et al 2017; Plothner et al 2016; Rubio-Terres et al 2015; Wang et al 2017). However, it has been observed that the cost of genetic testing has been decreasing and is expected to continue to do so in the future (National Institute of Health NIH 2016).…”

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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Incremental cost-effectiveness of algorithm-driven genetic testing versus no testing for Maturity Onset Diabetes of the Young (MODY) in Singapore

Abstract: Our proposed algorithm-driven testing strategy for MODY is not yet cost-effective based on established benchmarks. However, as genetic testing prices continue to fall, this strategy is likely to become cost-effective in the near future.

Cited by 13 publications

References 27 publications

The Impact of Biomarker Screening and Cascade Genetic Testing on the Cost-Effectiveness of MODY Genetic Testing

The Impact of Biomarker Screening and Cascade Genetic Testing on the Cost-Effectiveness of MODY Genetic Testing

Monogenic Diabetes in Children and Adolescents: Recognition and Treatment Options

Cost-effectiveness of precision medicine: a scoping review

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