Editorial: Is molecular testing cost effective? It depends

BackgroundDespite progress in TB control in low-burden countries like England and Wales, there are still diagnostic delays. Molecular testing and/or whole-genome sequencing (WGS) provide more rapid diagnosis but their cost-effectiveness is relatively unexplored in low-burden settings.MethodsAn integrated transmission-dynamic health economic model is used to assess the cost-effectiveness of using WGS to replace culture-based drug-sensitivity testing, versus using molecular testing versus combined use of WGS and molecular testing, for routine TB diagnosis. The model accounts for the effects of faster appropriate treatment in reducing transmission, benefiting health and reducing future treatment costs. Cost-effectiveness is assessed using incremental net benefit (INB) over a 10-year horizon with a quality-adjusted life-year valued at £20 000, and discounting at 3.5% per year.ResultsWGS shortens the time to drug sensitivity testing and treatment modification where necessary, reducing treatment and hospitalisation costs, with an INB of £7.1 million. Molecular testing shortens the time to TB diagnosis and treatment. Initially, this causes an increase in annual costs of treatment, but averting transmissions and future active TB disease subsequently, resulting in cost savings and health benefits to achieve an INB of £8.6 million (GeneXpert MTB/RIF) or £11.1 million (Xpert-Ultra). Combined use of Xpert-Ultra and WGS is the optimal strategy we consider, with an INB of £16.5 million.ConclusionRoutine use of WGS or molecular testing is cost-effective in a low-burden setting, and combined use is the most cost-effective option. Adoption of these technologies can help low-burden countries meet the WHO End TB Strategy milestones, particularly the UK, which still has relatively high TB rates.

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Is BRCA Mutation Testing Cost Effective for Early Stage Breast Cancer Patients Compared to Routine Clinical Surveillance? The Case of an Upper Middle-Income Country in Asia

Applied Health Economics and Health Policy ◽

10.1007/s40258-018-0384-8 ◽

2018 ◽

Vol 16 (3) ◽

pp. 395-406 ◽

Cited By ~ 3

Author(s):

Ka Keat Lim ◽

Sook Yee Yoon ◽

Nur Aishah Mohd Taib ◽

Fatiha Hana Shabaruddin ◽

Maznah Dahlui ◽

...

Keyword(s):

Breast Cancer ◽

Cancer Patients ◽

Early Stage ◽

Brca Mutation ◽

Cost Effective ◽

Middle Income Country ◽

Breast Cancer Patients ◽

Middle Income ◽

Clinical Surveillance ◽

Testing Cost

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Comprehensive Evaluation of Hepatitis E Serology and Molecular Testing in a Large Cohort

Pathogens ◽

10.3390/pathogens9020137 ◽

2020 ◽

Vol 9 (2) ◽

pp. 137

Author(s):

Olympia E. Anastasiou ◽

Viktoria Thodou ◽

Annemarie Berger ◽

Heiner Wedemeyer ◽

Sandra Ciesek

Keyword(s):

Hepatitis E Virus ◽

Clinical Laboratory ◽

Comprehensive Evaluation ◽

Cost Effective ◽

Hepatitis E ◽

Molecular Testing ◽

Real World Setting ◽

Immunosuppressed Patients ◽

Immunocompromised Hosts ◽

Time Point

Introduction: Reliable and cost-effective diagnostics for hepatitis E virus (HEV) infection are necessary. The aim of our study was to investigate which diagnostic test is most accurate to detect HEV infection in immunocompetent and immunosuppressed patients in a real world setting. Patients and Methods: We performed a retrospective analysis of 1165 patients tested for HEV antibodies and HEV PCR at the same time point. Clinical, laboratory and virological data were taken from patient charts. HEV IgA was measured in a subgroup of 185 patients. Results: HEV RNA was detectable in 61 patients (5.2%); most of them (n = 49, 80.3%/n = 43, 70.5%) were HEV IgM+ and IgG+; however, 12 patients (19.6%) were HEV RNA positive/HEV IgM negative and 17 patients (27.8%) were HEV RNA positive/HEV IgG negative. Ten HEV RNA positive patients (16.4%) had neither HEV IgG nor IgM antibodies. Importantly, all of them were immunosuppressed. HEV IgA testing was less sensitive than HEV IgM for HEV diagnosis. Conclusions: HEV infection can be overlooked in patients without HEV specific antibodies. Performing PCR is necessary to diagnose or exclude HEV infection in immunocompromised hosts. In immunocompetent patients, a screening based on HEV antibodies (IgG/IgM) is sufficient.

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Next-Generation Sequencing Technologies in Blood Group Typing

Transfusion Medicine and Hemotherapy ◽

10.1159/000504765 ◽

2019 ◽

Vol 47 (1) ◽

pp. 4-13 ◽

Cited By ~ 1

Author(s):

Daniel Fürst ◽

Chrysanthi Tsamadou ◽

Christine Neuchel ◽

Hubert Schrezenmeier ◽

Joannis Mytilineos ◽

...

Keyword(s):

Next Generation Sequencing ◽

Blood Group ◽

Large Scale ◽

Cost Effective ◽

Molecular Testing ◽

Blood Group Antigens ◽

Next Generation ◽

Sequencing Technologies ◽

Blood Group Typing ◽

Generation Sequencing

Sequencing of the human genome has led to the definition of the genes for most of the relevant blood group systems, and the polymorphisms responsible for most of the clinically relevant blood group antigens are characterized. Molecular blood group typing is used in situations where erythrocytes are not available or where serological testing was inconclusive or not possible due to the lack of antisera. Also, molecular testing may be more cost-effective in certain situations. Molecular typing approaches are mostly based on either PCR with specific primers, DNA hybridization, or DNA sequencing. Particularly the transition of sequencing techniques from Sanger-based sequencing to next-generation sequencing (NGS) technologies has led to exciting new possibilities in blood group genotyping. We describe briefly the currently available NGS platforms and their specifications, depict the genetic background of blood group polymorphisms, and discuss applications for NGS approaches in immunohematology. As an example, we delineate a protocol for large-scale donor blood group screening established and in use at our institution. Furthermore, we discuss technical challenges and limitations as well as the prospect for future developments, including long-read sequencing technologies.

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Personalized molecular testing for therapeutic guidance in Taiwan.

Journal of Clinical Oncology ◽

10.1200/jco.2013.31.15_suppl.e22067 ◽

2013 ◽

Vol 31 (15_suppl) ◽

pp. e22067-e22067

Author(s):

Kang-Yi Su ◽

Sung-Liang Yu

Keyword(s):

Target Therapy ◽

Cost Effective ◽

Personalized Therapy ◽

Identification System ◽

Molecular Testing ◽

Reference Laboratory ◽

Technical Limitation ◽

Targeting Therapy ◽

Therapeutic Decisions ◽

The Right

e22067 Background: Personalized cancer therapy is based on the precept that detail molecular characterization of tumors as well as tumor microenvironment will enable tailored therapies to improve outcomes and decrease toxicity. The goal of personalized therapy is to target aberrations driving tumor growth and prolongs survival, by administering the right drug combination for the right person. However, several practical and technological challenges including tumor heterogeneity, molecular evolution, costs and morbidity of biopsies as well as technical limitation critical for molecular testing. In addition, development of biomarkers should be considered all aspects of drug development, from discovery through to clinical trials. Methods: In Taiwan, we have established a well-qualified reference laboratory with ISO15189 certification for molecular testing of personalized therapy in clinical practice. Based on our innovation, we utilized DNA mass spectrometry platform to develop high sensitive EGFR mutation identification system. Recently, KRAS, BRAF, HER2 together with EGFR were also combined into multiplex gene testing for biomarker-assessed therapeutic decision. To this end, the National Science Council of Taiwan government had supported this project through NRPB (National Research Program of Biopharmaceutical) at the middle of 2011. This facility performed selected molecular tests for cancer patients from medical centers and regional hospitals. Results: A specific program had also been implemented to anticipate the launch of molecular targeting therapy (MTT) and reduce time-to-assess to MTT drugs and experimental therapies. From Jane 2011 to Dec 2012, more than 2,500 patients with lung cancer in Taiwan benefited from this facility. Conclusions: The Taiwan nationwide initiative for tumor molecular profiling is a tool to fight inequalities in access to molecular testing and target therapy, and demonstrates that molecular stratification of tumor for therapeutic decisions is a cost-effective strategy that can be integrated into the national health-care system.

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