Match!

A review of economic evaluations of genetic testing services and interventions (2004-2009).

Published on Feb 1, 2011in Genetics in Medicine8.683
· DOI :10.1097/GIM.0B013E3182003294
S. Djalalov5
Estimated H-index: 5
(Cancer Care Ontario),
Zahra Musa2
Estimated H-index: 2
(Cancer Care Ontario)
+ 2 AuthorsJeffrey S. Hoch34
Estimated H-index: 34
(Cancer Care Ontario)
Abstract
To review economic evaluations of genetic interventions published between 2004 and 2009 and assess the quality of the identified studies, we searched for economic evaluations of genetic testing and interventions published between 2004 and 2009. Studies that met inclusion criteria were reviewed and their quality then assessed using a validated instrument—the Quality of Health Economic Studies. Of 54 articles identified, 26 met study criteria and were included in the review. These studies span a number of clinical indications, genetic tests, and interventions, but the majority (92%) focuses on genetic interventions for preventive screening and increasing treatment efficacy. The mean quality score for the reviewed studies was 89.8. Comparison of the quality of different study types revealed that cost-utility studies and studies that used a combined decision tree and Markov model had the highest mean quality scores. Clear statements regarding bias, funding source, and study perspective were commonly lacking in the reviewed studies. Although the reviewed studies were of fairly high quality, we found Quality of Health Economic Studies methodology for grading the quality of economic evaluations challenging and observed no statistically significant improvement in quality of studies between the periods of 1995–2004 and 2004–2009.
  • References (39)
  • Citations (22)
📖 Papers frequently viewed together
85 Citations
57 Citations
74 Citations
78% of Scinapse members use related papers. After signing in, all features are FREE.
References39
Newest
Objective . Genetic tests for hereditary hemochromatosis (HH) are currently included in the German ambulatory care reimbursement scheme but only for symptomatic individuals and the offspring of HH patients. This study synthesizes the most current evidence to examine whether screening in the broader population is cost-effective and to identify the best choice of initial and follow-up screening tests.Methods. A probabilistic decision-analytic model was constructed to calculate cost per life year g...
36 CitationsSource
#1Mark H. Eckman (UC: University of Cincinnati)H-Index: 34
#2Jonathan RosandH-Index: 72
Last. Brian F. GageH-Index: 52
view all 4 authors...
Abstract Variants in genes involved in warfarin metabolism and sensitivity affect individual warfarin requirements and the risk for bleeding. Testing for these variant alleles might allow more personalized dosing of warfarin during the induction phase. In 2007, the U.S. Food and Drug Administration changed the labeling for warfarin (Coumadin, Bristol-Myers Squibb, Princeton, New Jersey), suggesting that clinicians consider genetic testing before initiating therapy. To examine the cost-effectiven...
256 CitationsSource
#1Jennifer E. Mersereau (UCSF: University of California, San Francisco)H-Index: 16
#2Beth A. Plunkett (NU: Northwestern University)H-Index: 11
Last. Marcelle I. Cedars (UCSF: University of California, San Francisco)H-Index: 45
view all 3 authors...
Objective To compare the strategy of traditional IVF with prenatal diagnosis versus IVF with preimplantation genetic screening (IVF/PGS) to prevent aneuploid births in women with advanced maternal age. Design A decision tree analytic model was created to compare IVF alone versus IVF/PGS to evaluate which strategy is the least costly per healthy (euploid) infant. Setting Outpatient IVF practices. Patient(s) Infertile women, 38–40 and >40 years old. Intervention(s) IVF or IVF/PGS. Main Outcome Mea...
16 CitationsSource
#1Daniel F. Heitjan (UPenn: University of Pennsylvania)H-Index: 57
#2David A. AschH-Index: 69
Last. Caryn LermanH-Index: 95
view all 6 authors...
We evaluated the cost-effectiveness of a range of smoking cessation drug treatments, including varenicline, transdermal nicotine (TN), bupropion and the use of a genetic test to choose between TN and bupropion. We performed Monte Carlo simulation with sensitivity analysis, informing analyses with published estimates of model parameters and current prices for genetic testing and smoking-cessation therapy. The primary outcomes were discounted life-years (LY) and lifetime tobacco-cessation treatmen...
26 CitationsSource
#1Keith Cooper (UCL: University College London)H-Index: 20
#2J. Bryant (UCL: University College London)H-Index: 1
Last. Christine Patch (UCL: University College London)H-Index: 18
view all 7 authors...
Background: New techniques for diagnosing hereditary haemochromatosis (HHC) have become available alongside traditional tests such as liver biopsy and serum iron studies. Aim: To evaluate DNA tests in people suspected of having haemochromatosis at clinical presentation compared to liver biopsy, and in family members of those diagnosed with haemochromatosis compared to phenotypic iron studies in UK. Methods: Decision analytic models were constructed to compare the costs and consequences of the di...
5 CitationsSource
#1Nicky J Welton (UoB: University of Bristol)H-Index: 48
#2Elaine C. JohnstoneH-Index: 38
Last. Marcus R. MunafòH-Index: 73
view all 4 authors...
We conducted a cost-effectiveness analysis of genetic testing for smoking cessation, based on data available from the published pharmacogenetic studies of nicotine replacement therapy and bupropion, and a previous cost-effectiveness analysis of smoking cessation treatments. We use multiparameter evidence synthesis methods to combine evidence on cessation by genotype with evidence on cessation irrespective of genotype (which can be written as a function of genotype-specific parameters). Our inten...
37 CitationsSource
#1Stefan Vegter (UG: University of Groningen)H-Index: 18
#2Cornelis Boersma (UG: University of Groningen)H-Index: 15
Last. Maarten J. Postma (UG: University of Groningen)H-Index: 47
view all 6 authors...
The fields of pharmacogenetics and pharmacogenomics have become important practical tools to progress goals in medical and pharmaceutical research and development. As more screening tests are being developed, with some already used in clinical practice, consideration of cost-effectiveness implications is important. A systematic review was performed on the content of and adherence to pharmacoeconomic guidelines of recent pharmacoeconomic analyses performed in the field of pharmacogenetics and pha...
74 CitationsSource
#1David L. VeenstraH-Index: 39
#2Julie HarrisH-Index: 8
Last. Carolyn Watts (UW: University of Washington)H-Index: 12
view all 6 authors...
Background: Aminoglycosides are commonly used in cystic fibrosis patients to treat Pseudomonas aeruginosa respiratory infections. Aminoglycoside-induced hearing loss may occur in 1%–15% of patients with cystic fibrosis, ranging from mild to severe. Recently, a genetic test to identify patients with a mitochondrial mutation (A1555G) that may predispose patients to this adverse event has become available. Although the A1555G variant is very rare, it seems to confer a high risk of severe hearing lo...
36 CitationsSource
#1L. Adrienne Cupples (BU: Boston University)H-Index: 127
#2Heather T ArrudaH-Index: 1
Last. Larry D. Atwood (BU: Boston University)H-Index: 31
view all 36 authors...
Background The Framingham Heart Study (FHS), founded in 1948 to examine the epidemiology of cardiovascular disease, is among the most comprehensively characterized multi-generational studies in the world. Many collected phenotypes have substantial genetic contributors; yet most genetic determinants remain to be identified. Using single nucleotide polymorphisms (SNPs) from a 100K genome-wide scan, we examine the associations of common polymorphisms with phenotypic variation in this community-base...
189 CitationsSource
#1Maartje Nielsen (LUMC: Leiden University Medical Center)H-Index: 26
#2Frederik J. Hes (LUMC: Leiden University Medical Center)H-Index: 37
Last. Wilbert B. van den Hout (LUMC: Leiden University Medical Center)H-Index: 31
view all 4 authors...
Background MUTYH associated polyposis (MAP) is an autosomal recessive inherited disorder. Carriers of bi-allelic MUTYH germline mutations have a risk of approximately 60% to develop colorectal carcinoma (CRC). In the general population about 1.5% is a heterozygous MUTYH mutation carrier. Children of MAP patients have an increased risk of inheriting two MUTYH mutations compared to the general population, implicating an increased risk for developing CRC.
14 CitationsSource
Cited By22
Newest
#1Ye Zhu (Mayo Clinic)H-Index: 1
#2Kristi M. Swanson (Mayo Clinic)H-Index: 5
Last. Bijan J. Borah (Mayo Clinic)H-Index: 21
view all 11 authors...
To examine the evidence on the cost-effectiveness of implementing pharmacogenomics (PGx) in cardiovascular disease (CVD) care. We conducted a systematic review using multiple databases from inception to 2018. The titles and abstracts of cost-effectiveness studies on PGx-guided treatment in CVD care were screened, and full texts were extracted. We screened 909 studies and included 46 to synthesize. Acute coronary syndrome and atrial fibrillation were the predominantly studied conditions (59%). Mo...
7 CitationsSource
#1Sandjar Djalalov (Westminster International University in Tashkent)
#1S. Djalalov (Westminster International University in Tashkent)H-Index: 5
Last. Jeffrey S. Hoch (UC Davis: University of California, Davis)H-Index: 34
view all 5 authors...
Abstract Background There is an increasing number of Russian economic evaluation studies in oncology, the scope and quality of which are unknown. Objectives This study aimed to assess the scope and quality of economic evaluations in oncology, with the goal of elucidating implications for improving their use in Russia. Methods Online databases were searched for oncologic economic evaluations written in Russian. Data were extracted and assessed with the Quality of Health Economic Studies (QHES) in...
Source
#1Lara Petelin (University of Melbourne)H-Index: 4
#2Alison H. Trainer (University of Melbourne)H-Index: 21
Last. Paul A. James (University of Melbourne)H-Index: 35
view all 5 authors...
To review the evidence for the effectiveness and cost-effectiveness of cancer risk management interventions for BRCA carriers. Comparative effectiveness and cost-effectiveness analyses were identified by searching scientific and health economic databases. Eligible studies modeled the impact of a cancer risk management intervention in BRCA carriers on life expectancy (LE), cancer incidence, or quality-adjusted life years (QALYs), with or without costs. Twenty-six economic evaluations and eight co...
7 CitationsSource
#1Annamaria Guglielmo (Magna Græcia University)H-Index: 5
#2Nicoletta Staropoli (Magna Græcia University)H-Index: 10
Last. Marianna Mauro (Magna Græcia University)H-Index: 5
view all 4 authors...
Background Due to its epidemiological relevance, several studies have been performed to assess the cost-effectiveness of diagnostic tests and treatments in colorectal cancer (CRC) patients.
11 CitationsSource
#1Eldon Spackman (U of C: University of Calgary)H-Index: 16
#1SpackmanEldonH-Index: 1
Last. Mark Sculpher (Ebor: University of York)H-Index: 77
view all 5 authors...
Aims: New sequencing technologies allow increased opportunities to use genomic-based diagnostic tests (genomic tests) in routine clinical practice, which will impact healthcare budgets and patients' outcomes. This article aims to generate a list of recommendations on how the principles and methods of cost-effectiveness analysis (CEA) can be used to quantify the costs and benefits of genomic tests. Methods: A systematic literature search identified publications describing the use of CEA to evalua...
6 CitationsSource
#1Katherine Payne (University of Manchester)H-Index: 35
#2M Eden (University of Manchester)H-Index: 11
Last. Egbert Bakker (LUMC: Leiden University Medical Center)H-Index: 51
view all 4 authors...
Whole-genome sequencing (WGS) is being applied within research settings across Europe to develop genomic WGS-based diagnostic tests. The focus of this perspective paper is to describe if, and how, current approaches of health technology assessment could be applied to WGS-based diagnostic tests. This perspective draws on the collective view from a trans-European multidisciplinary consortium of methodologists, clinicians and scientists. Specific challenges can be described by using the PICO (popul...
6 CitationsSource
Background: Autism Spectrum Disorder (ASD) is a highly heritable neural development disorder characterized by social impairment. The earlier the diagnosis is made, the higher are the chances of obtaining relief of symptoms. A very early diagnosis uses molecular genetic tests, which are also offered commercially. Objective: Systematic review of the economic impact of genetic tests in ASD. Methods: We performed a systematic search of databases Pubmed, Medline, Cochrane, Econlit and the NHS Center ...
3 CitationsSource
#1Elvira D’Andrea (Sapienza University of Rome)H-Index: 10
#2Carolina Marzuillo (Sapienza University of Rome)H-Index: 15
Last. Paolo Villari (Sapienza University of Rome)H-Index: 34
view all 7 authors...
Which BRCA genetic testing programs are ready for implementation in health care? A systematic review of economic evaluations
32 CitationsSource
#1Elizabeth J J Berm (UG: University of Groningen)H-Index: 5
#2Margot de Looff (UG: University of Groningen)H-Index: 2
Last. Maarten J. Postma (UG: University of Groningen)H-Index: 47
view all 8 authors...
Objective Due to extended application of pharmacogenetic and pharmacogenomic screening (PGx) tests it is important to assess whether they provide good value for money. This review provides an update of the literature. Methods A literature search was performed in PubMed and papers published between August 2010 and September 2014, investigating the cost-effectiveness of PGx screening tests, were included. Papers from 2000 until July 2010 were included via two previous systematic reviews. Studies' ...
45 CitationsSource
#1Sarah Wordsworth (University of Oxford)H-Index: 20
#2James Buchanan (University of Oxford)H-Index: 38
Last. Adrian TowseH-Index: 1
view all 3 authors...
Abstract This chapter begins by outlining why health economics is an important discipline in discussions concerning the use of genomic information in health care. It then provides the reader with an overview of some of the key concepts addressed by health economics and describes one of the main methods used by health economists to evaluate healthcare interventions: economic evaluation. The chapter then moves on to provide examples of where health economics has been applied to genomics, including...
1 CitationsSource