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

Diabetes Care ◽  
2019 ◽  
Vol 42 (12) ◽  
pp. 2247-2255 ◽  
Author(s):  
Matthew S. GoodSmith ◽  
M. Reza Skandari ◽  
Elbert S. Huang ◽  
Rochelle N. Naylor
2019 ◽  
Vol 3 (Supplement_1) ◽  
Author(s):  
Matthew GoodSmith ◽  
M Skandari ◽  
Elbert Huang ◽  
Rochelle Naylor

2016 ◽  
Author(s):  
Moira Verbelen ◽  
Michael E Weale ◽  
Cathryn M Lewis

AbstractPharmacogenetics (PGx) has the potential to personalize pharmaceutical treatments. Many relevant gene-drug associations have been discovered, but PGx guided treatment needs to be cost-effective as well as clinically beneficial to be incorporated into standard healthcare. Progress in this area can be assessed by reviewing economic evaluations to determine the cost-effectiveness of PGx testing versus standard treatment. We performed a review of economic evaluations for PGx associations listed in the US Food and Drug Administration (FDA) Table of Pharmacogenomic Biomarkers in Drug Labeling (http://www.fda.gov/Drugs/ScienceResearch/ResearchAreas/Pharmacogenetics/ucm083378.htm). We determined the proportion of evaluations that found PGx guided treatment to be cost-effective or dominant over the alternative strategies, and we estimated the impact on this proportion of removing the cost of genetic testing. Of the 130 PGx associations in the FDA table, 44 economic evaluations, relating to 10 drugs, were identified. Of these evaluations, 57% drew conclusions in favour of PGx testing, of which 30% were cost-effective and 27% were dominant (cost-saving). If genetic information was freely available, 75% of economic evaluations would support PGx guided treatment, of which 25% would be cost-effective and 50% would be dominant. Thus, PGx guided treatment can be a cost-effective and even cost-saving strategy. Having genetic information readily available in the clinical health record is a realistic future prospect, and would make more genetic tests economically worthwhile. However, few drugs with PGx associations have been studied and more economic evaluations are needed to underpin the uptake of genetic testing in clinical practice.


Author(s):  
V.V. Verna

The article provides a rationale for methodological approaches to assessing the effectiveness of outsourcing in organizations of the construction industry using the example of outsourcing schemes to perform personnel functions. The conditional example shows the impact of the use of outsourcing on reducing the costs of a construction organization. The main prerequisites for the use of outsourcing in the activities of enterprises in the construction industry are identified, methodological approaches to assessing the cost-effectiveness of personnel outsourcing in the construction industry enterprises are substantiated.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Obinna Ikechukwu Ekwunife ◽  
Chinelo Janefrances Ofomata ◽  
Charles Ebuka Okafor ◽  
Maureen Ugonwa Anetoh ◽  
Stephen Okorafor Kalu ◽  
...  

Abstract Background In sub-Saharan Africa, there is increasing mortality and morbidity of adolescents due to poor linkage, retention in HIV care and adherence to antiretroviral therapy (ART). This is a result of limited adolescent-centred service delivery interventions. This cost-effectiveness and feasibility study were piggybacked on a cluster-randomized trial that assessed the impact of an adolescent-centred service delivery intervention. The service delivery intervention examined the impact of an incentive scheme consisting of conditional economic incentives and motivational interviewing on the health outcomes of adolescents living with HIV in Nigeria. Method A cost-effectiveness analysis from the healthcare provider’s perspective was performed to assess the cost per additional patient achieving undetected viral load through the proposed intervention. The cost-effectiveness of the incentive scheme over routine care was estimated using the incremental cost-effectiveness ratio (ICER), expressed as cost/patient who achieved an undetectable viral load. We performed a univariate sensitivity analysis to examine the effect of key parameters on the ICER. An in-depth interview was conducted on the healthcare personnel in the intervention arm to explore the feasibility of implementing the service delivery intervention in HIV treatment hospitals in Nigeria. Result The ICER of the Incentive Scheme intervention compared to routine care was US$1419 per additional patient with undetectable viral load. Going by the cost-effectiveness threshold of US$1137 per quality-adjusted life-years suggested by Woods et al., 2016, the intervention was not cost-effective. The sensitivity test showed that the intervention will be cost-effective if the frequency of CD4 count and viral load tests are reduced from quarterly to triannually. Healthcare professionals reported that patients’ acceptance of the intervention was very high. Conclusion The conditional economic incentives and motivational interviewing was not cost-effective, but can become cost-effective if the frequency of HIV quality of life indicator tests are performed 1–3 times per annum. Patients’ acceptance of the intervention was very high. However, healthcare professionals believed that sustaining the intervention may be difficult unless factors such as government commitment and healthcare provider diligence are duly addressed. Trial registration This trial is registered in the WHO International Clinical Trials Registry through the WHO International Registry Network (PACTR201806003040425).


2021 ◽  
Vol 4 (1) ◽  
pp. 9
Author(s):  
Esther Oceja ◽  
Paula Rodríguez ◽  
María Jurado ◽  
Maria Luz Alonso ◽  
Genoveva del Río ◽  
...  

Obstructive sleep apnea (OSA) in children is a prevalent, albeit largely undiagnosed disease associated with a large spectrum of morbidities. Overnight in-lab polysomnography remains the gold standard diagnostic approach, but is time-consuming, inconvenient, and expensive, and not readily available in many places. Simplified Home Respiratory Polygraphy (HRP) approaches have been proposed to reduce costs and facilitate the diagnostic process. However, evidence supporting the validity of HRP is still scarce, hampering its implementation in routine clinical use. The objectives were: Primary; to establish the diagnostic and therapeutic decision validity of a simplified HRP approach compared to PSG among children at risk of OSA. Secondary: (a) Analyze the cost-effectiveness of the HRP versus in-lab PSG in evaluation and treatment of pediatric OSA; (b) Evaluate the impact of therapeutic interventions based on HRP versus PSG findings six months after treatment using sleep and health parameters and quality of life instruments; (c) Discovery and validity of the urine biomarkers to establish the diagnosis of OSA and changes after treatment.


Author(s):  
Abdul Rahman Ramdzan ◽  
Mohd Rizal Abdul Manaf ◽  
Azimatun Noor Aizuddin ◽  
Zarina A. Latiff ◽  
Keng Wee Teik ◽  
...  

Colorectal cancer (CRC) remains the second leading cause of cancer-related deaths worldwide. Approximately 3–5% of CRCs are associated with hereditary cancer syndromes. Individuals who harbor germline mutations are at an increased risk of developing early onset CRC, as well as extracolonic tumors. Genetic testing can identify genes that cause these syndromes. Early detection could facilitate the initiation of targeted prevention strategies and surveillance for CRC patients and their families. The aim of this study was to determine the cost-effectiveness of CRC genetic testing. We utilized a cross-sectional design to determine the cost-effectiveness of CRC genetic testing as compared to the usual screening method (iFOBT) from the provider’s perspective. Data on costs and health-related quality of life (HRQoL) of 200 CRC patients from three specialist general hospitals were collected. A mixed-methods approach of activity-based costing, top-down costing, and extracted information from a clinical pathway was used to estimate provider costs. Patients and family members’ HRQoL were measured using the EQ-5D-5L questionnaire. Data from the Malaysian Study on Cancer Survival (MySCan) were used to calculate patient survival. Cost-effectiveness was measured as cost per life-year (LY) and cost per quality-adjusted life-year (QALY). The provider cost for CRC genetic testing was high as compared to that for the current screening method. The current practice for screening is cost-saving as compared to genetic testing. Using a 10-year survival analysis, the estimated number of LYs gained for CRC patients through genetic testing was 0.92 years, and the number of QALYs gained was 1.53 years. The cost per LY gained and cost per QALY gained were calculated. The incremental cost-effectiveness ratio (ICER) showed that genetic testing dominates iFOBT testing. CRC genetic testing is cost-effective and could be considered as routine CRC screening for clinical practice.


2019 ◽  
Vol 70 (1) ◽  
pp. 26-29 ◽  
Author(s):  
Tinevimbo Shiri ◽  
Angela Loyse ◽  
Lawrence Mwenge ◽  
Tao Chen ◽  
Shabir Lakhi ◽  
...  

Abstract Background Mortality from cryptococcal meningitis remains very high in Africa. In the Advancing Cryptococcal Meningitis Treatment for Africa (ACTA) trial, 2 weeks of fluconazole (FLU) plus flucytosine (5FC) was as effective and less costly than 2 weeks of amphotericin-based regimens. However, many African settings treat with FLU monotherapy, and the cost-effectiveness of adding 5FC to FLU is uncertain. Methods The effectiveness and costs of FLU+5FC were taken from ACTA, which included a costing analysis at the Zambian site. The effectiveness of FLU was derived from cohorts of consecutively enrolled patients, managed in respects other than drug therapy, as were participants in ACTA. FLU costs were derived from costs of FLU+5FC in ACTA, by subtracting 5FC drug and monitoring costs. The cost-effectiveness of FLU+5FC vs FLU alone was measured as the incremental cost-effectiveness ratio (ICER). A probabilistic sensitivity analysis assessed uncertainties and a bivariate deterministic sensitivity analysis examined the impact of varying mortality and 5FC drug costs on the ICER. Results The mean costs per patient were US $847 (95% confidence interval [CI] $776–927) for FLU+5FC, and US $628 (95% CI $557–709) for FLU. The 10-week mortality rate was 35.1% (95% CI 28.9–41.7%) with FLU+5FC and 53.8% (95% CI 43.1–64.1%) with FLU. At the current 5FC price of US $1.30 per 500 mg tablet, the ICER of 5FC+FLU versus FLU alone was US $65 (95% CI $28–208) per life-year saved. Reducing the 5FC cost to between US $0.80 and US $0.40 per 500 mg resulted in an ICER between US $44 and US $28 per life-year saved. Conclusions The addition of 5FC to FLU is cost-effective for cryptococcal meningitis treatment in Africa and, if made available widely, could substantially reduce mortality rates among human immunodeficiency virus–infected persons in Africa.


2021 ◽  
Vol 13 (6) ◽  
pp. 3054
Author(s):  
Renata Tubelo ◽  
Lucelia Rodrigues ◽  
Mark Gillott ◽  
May Zune

In Brazil, the delivery of homes for low-inc ome households is dictated by costs rather than performance. Issues such as the impact of climate change, affordability of operational energy use, and lack of energy security are not taken into account, even though they can severely impact the occupants. In this work, the authors evaluated the thermal performance of two affordable houses as-built and after the integration of envelope improvements. A new replicable method to evaluate the cost-effectiveness of these improvements was proposed. The case study houses comprise the most common affordable housing type delivered widely across Brazil and a proposition of a better affordable housing solution, built in Porto Alegre, southern Brazil, integrating passive design strategies to increase thermal comfort. The findings reveal a potential for improving indoor thermal conditions by up to 76% and 73%, respectively, if costs are not a concern, and 40% and 45% with a cost increase of 12% and 9% if a comfort criterion of 20–25 °C was considered. Equations to estimate costs of improvements in affordable housing were developed. The authors concluded that there is a great scope for building envelope optimisation, and that this is still possible without significant impact on budget.


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