scholarly journals Can polygenic risk scores contribute to cost-effective cancer screening? A systematic review

Author(s):  
Padraig Dixon ◽  
Edna Keeney ◽  
Jenny C Taylor ◽  
Sarah Wordsworth ◽  
Richard Martin

Polygenic risk is known to influence susceptibility to cancer. The use of data on polygenic risk, in conjunction with other predictors of future disease status, may offer significant potential for preventative care through risk-stratified screening programmes. An important element in the evaluation of screening programmes is their cost-effectiveness. We undertook a systematic review of papers evaluating the cost-effectiveness of screening interventions informed by polygenic risk scores compared to more conventional screening modalities. We included papers reporting cost-effectiveness outcomes in the English language published as articles or uploaded onto preprint servers with no restriction on date, type of cancer or form of polygenic risk modelled. We excluded papers evaluating screening interventions that did not report cost-effectiveness outcomes or which had a focus on monogenic risk. We evaluated studies using the Quality of Health Economic Studies checklist. Ten studies were included in the review, which investigated three cancers: prostate (n=5), colorectal (n=3) and breast (n=2). All study designs were cost-utility papers implemented as Markov models (n=6) or microsimulations (n=4). Nine of ten papers scored highly (score >75 on a 0-100) scale) when assessed using the Quality of Health Economic Studies checklist. Eight of ten studies concluded that polygenic risk informed cancer screening was likely to be more cost-effective than alternatives. However, the included studies lacked robust external data on the cost of polygenic risk stratification, did not account for how very large volumes of polygenic risk data on individuals would be collected and used, did not consider ancestry-related differences in polygenic risk, and did not fully account for downstream economic sequalae stemming from the use of polygenic risk data in these ways. These topics merit attention in future research on how polygenic risk data might contribute to cost-effective cancer screening.

Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 4678-4678
Author(s):  
Chris Knight ◽  
Anne Møller Danø ◽  
Tessa Kennedy-Martin

Abstract Objectives: Although haemophilia patients with inhibitors are rare, the clinical, humanistic and economic consequences associated with this disorder are considerable. The primary treatment for such patients is either rFVIIa or aPCC. The aim of this study was to identify, review and evaluate the quality of the published literature on the relative cost-effectiveness of rFVIIa and aPCC in treating haemophilia patients with inhibitors. Methods: The review concentrates on the model type, the model design, model assumptions, and results. Results: The results of this study suggest that rFVIIa may be the cost-effective alternative to treatment with aPCC due to the superior efficacy of rFVIIa and hence the avoidance of subsequent lines of treatment. In 7 of the 9 studies, rFVIIa had the lower average treatment cost. The adapted modelling framework is similar in all the economic models reviewed, suggesting clinical acceptability of the approach used. The estimates of efficacy varied between the models, especially for aPCC. The efficacy for aPCC derived from retrospective studies was lower than reported in the literature. Sensitivity analysis had been undertaken in the majority of the economic analyses and the results were found to be robust to realistic parameter variations. Only one of the studies was a cost-utility study, showing the lack of measuring health status within this area. The results showed the large impact appropriate treatment can have on the quality of life for haemophilia patients with inhibitors. Conclusions: Ideally, there should be a systematic approach to identifying the relevant data and the lack of data from relevant randomized head-to-head trials is a contributing factor to the variation in efficacy rates and average dosages assumed. However, this systematic review has shown that despite differences in the estimates of efficacy, average dosage required, and unit costs the overall results are robust and appear to favour rFVIIa as the cost-effectiveness treatment for haemophilia patients with inhibitors.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Jerry Zeng Yang Wong ◽  
Jia Hui Chai ◽  
Yen Shing Yeoh ◽  
Nur Khaliesah Mohamed Riza ◽  
Jenny Liu ◽  
...  

Abstract Background This study aimed to evaluate the cost-effectiveness of a breast cancer screening programme that incorporates genetic testing using breast cancer associated single nucleotide polymorphisms (SNPs), against the current biennial mammogram-only screening programme to aid in its implementation into the current programme in Singapore. Methods A Markov model was used to compare the costs and health outcomes of the current screening programme, against a polygenic risk-tailored screening programme, which can advise a long-term screening strategy depending on the individual’s polygenic risk. The model took the perspective of the healthcare system, with a time horizon of 40 years, following women from the age of 35 to 74. Epidemiological and cost data were taken from Asian studies, and an annual discount rate of 3% was used. The model outcome was the incremental cost-effectiveness ratio (ICER), calculated from the difference in costs per quality-adjusted life year (QALY). Scenarios with varying risk thresholds for each polygenic risk group were examined. One-way and probabilistic sensitivity analyses were performed to assess parameter uncertainty. Results The ICER for a polygenic risk-tailored breast cancer screening programme, compared with the current biennial mammogram-only screening programme, was − 3713.80 SGD/QALY, with incremental costs < 0 and incremental effects > 0. The scenario analysis of different polygenic risk cutoffs showed that the ICERs remain negative, with all ICERs falling within the south-east quadrant of the cost-effectiveness plane, indicating that tailored screening is more cost effective than mammogram-only screening, with lower costs and higher QALYs to be gained. This suggests that a polygenic risk-tailored breast cancer screening programme is cost effective, entailing lower cost than the current mammogram-only programme, while causing no additional harm to women. Conclusion Results from this cost-effectiveness analysis show that polygenic risk-tailored screening is cost effective with an ICER of − 3713.80 SGD/QALY. Tailored screening remains cost effective even across varying percentile cutoffs for each risk group. While the results look promising for incorporating polygenic risk into the current breast cancer screening programme, further studies should be conducted to address various limitations.


2018 ◽  
Vol 11 (6) ◽  
pp. 548-552 ◽  
Author(s):  
Aditya V. Karhade ◽  
John Y. Kwon

Background. While investigations have been performed examining the quality of US-based cost-utility analyses for other orthopaedic subspecialties and have provided important insights, a similar analysis has not been performed examining the foot and ankle literature. Methods. A systematic review of foot and ankle studies was conducted to identify cost-utility analyses published between 2000 and 2017. Of 687 studies screened by abstract, 4 cost-utility studies were identified and scored by the Quality of Health Economic Studies instrument. Results. Of these 4 studies, 3 examined end-stage arthritis and 1 examined unstable ankle fractures. Cost-effective interventions identified by these studies included the performance of total ankle arthroplasty over ankle arthrodesis or nonoperative treatment for end-stage arthritis and suture button fixation over syndesmotic screws for unstable supination–external rotation ankle fractures. The mean Quality of Health Economic Studies scores for these studies was 87.5. Conclusion. Despite the increasing focus on value-based care delivery in the United States, there are few foot and ankle cost-utility analyses. Nonetheless, the quality of existing analyses is high. Certain interventions have been identified as cost-effective as highlighted above and the findings of this review can be used to help design future analyses in order to best demonstrate the cost-effectiveness of foot and ankle interventions. Levels of Evidence: Level III: Systematic Review of level III studies


Author(s):  
Filipa Sampaio ◽  
Inna Feldman ◽  
Tara A. Lavelle ◽  
Norbert Skokauskas

AbstractEconomic evaluations can help decision makers identify what services for children with neurodevelopmental disorders provide best value-for-money. The aim of this paper is to review the best available economic evidence to support decision making for attention deficit-hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) in children and adolescents. We conducted a systematic review of economic evaluations of ADHD and ASD interventions including studies published 2010–2020, identified through Econlit, Medline, PsychINFO, and ERIC databases. Only full economic evaluations comparing two or more options, considering both costs and consequences were included. The quality of the studies was assessed using the Drummond checklist. We identified ten studies of moderate-to-good quality on the cost-effectiveness of treatments for ADHD and two studies of good quality of interventions for ASD. The majority of ADHD studies evaluated pharmacotherapy (n = 8), and two investigated the economic value of psychosocial/behavioral interventions. Both economic evaluations for ASD investigated early and communication interventions. Included studies support the cost-effectiveness of behavioral parenting interventions for younger children with ADHD. Among pharmacotherapies for ADHD, different combinations of stimulant/non-stimulant medications for children were cost-effective at willingness-to-pay thresholds reported in the original papers. Early intervention for children with suspected ASD was cost-effective, but communication-focused therapy for preschool children with ASD was not. Prioritizing more studies in this area would allow decision makers to promote cost-effective and clinically effective interventions for this target group.


2019 ◽  
Vol 11 (1) ◽  
pp. e2019036 ◽  
Author(s):  
Jialian Li

Background:Deferoxamine (DFO) or Deferiprone (DFP) or Deferasirox (DFX) monotherapy and DFO and DFP combination therapy were four commonly implemented now chelation regimens for the iron overloaded of β-thalassemia major. This systematic review aims to determine the cost-effectiveness of four chelation regimens and provide evidence for the rational use of chelation regimens for β-thalassemia major therapy in clinic.Methods:A systematic literature search in PubMed, EMBASE (Ovid), CENTRAL (Cochrane library), HTAD (Cochrane library), NHS EED (Cochrane library), CBM, CNKI, VIP, and Wanfang was conducted in April 2018. In addition, a manual search was performed. Two researchers, working independently, selected the papers, extracted the data and assessed the methodological quality of the included papers. Each included paper was evaluated using a checklist developed by Drummond et al. Results:The initial number of records was 968, and eight papers met the final eligibility criteria. All the included eight papers were cost-utility analyses. And the methodological quality of these papers was good. Nineteen studies were included in eight papers. Nine studies of DFX versus DFO had contradictory results. Out of the nineteen studies, three studies of DFX versus DFP established that using DFP was cost-effective. Three studies of DFP versus DFO established that using DFP was cost-effective. One study of DFP and DFO combination therapy versus DFO found that using DFO was cost-effective. One study of DFP and DFO combination therapy versus DFP found that using DFP was cost-effective. And there were two studies of DFP and DFO combination therapy versus DFX, but we cannot be sure which one of two chelation regimens was cost-effective. Conclusion:In brief, DFP is the best choice, followed by DFO or DFX, when an iron chelator is to be used alone for β-thalassemia major therapy. All studies that compared DFO and DFP combination therapy with DFO (or DFP or DFX) monotherapy established that the combination therapy with DFO and DFP was not cost-effective. However, due to the low number of related studies, more extensive, high-quality research is required for further analysis and confirmation of our findings. Moreover, the cost effectiveness is not an absolute issue when in different countries(regions) the results are opposite for other countries(regions). The specific region had a substantial influence on the economy of drugs. Key words: β-thalassemia major, Deferoxamine, Deferiprone, Deferasirox, cost-effectiveness, systematic review


2017 ◽  
Vol 21 (80) ◽  
pp. 1-280 ◽  
Author(s):  
Ros Wade ◽  
Stephen Rice ◽  
Alexis Llewellyn ◽  
Eoin Moloney ◽  
Julie Jones-Diette ◽  
...  

BackgroundHyperhidrosis is uncontrollable excessive sweating that occurs at rest, regardless of temperature. The symptoms of hyperhidrosis can significantly affect quality of life. The management of hyperhidrosis is uncertain and variable.ObjectiveTo establish the expected value of undertaking additional research to determine the most effective interventions for the management of refractory primary hyperhidrosis in secondary care.MethodsA systematic review and economic model, including a value-of-information (VOI) analysis. Treatments to be prescribed by dermatologists and minor surgical treatments for hyperhidrosis of the hands, feet and axillae were reviewed; as endoscopic thoracic sympathectomy (ETS) is incontestably an end-of-line treatment, it was not reviewed further. Fifteen databases (e.g. CENTRAL, PubMed and PsycINFO), conference proceedings and trial registers were searched from inception to July 2016. Systematic review methods were followed. Pairwise meta-analyses were conducted for comparisons between botulinum toxin (BTX) injections and placebo for axillary hyperhidrosis, but otherwise, owing to evidence limitations, data were synthesised narratively. A decision-analytic model assessed the cost-effectiveness and VOI of five treatments (iontophoresis, medication, BTX, curettage, ETS) in 64 different sequences for axillary hyperhidrosis only.Results and conclusionsFifty studies were included in the effectiveness review: 32 randomised controlled trials (RCTs), 17 non-RCTs and one large prospective case series. Most studies were small, rated as having a high risk of bias and poorly reported. The interventions assessed in the review were iontophoresis, BTX, anticholinergic medications, curettage and newer energy-based technologies that damage the sweat gland (e.g. laser, microwave). There is moderate-quality evidence of a large statistically significant effect of BTX on axillary hyperhidrosis symptoms, compared with placebo. There was weak but consistent evidence for iontophoresis for palmar hyperhidrosis. Evidence for other interventions was of low or very low quality. For axillary hyperhidrosis cost-effectiveness results indicated that iontophoresis, BTX, medication, curettage and ETS was the most cost-effective sequence (probability 0.8), with an incremental cost-effectiveness ratio of £9304 per quality-adjusted life-year. Uncertainty associated with study bias was not reflected in the economic results. Patients and clinicians attending an end-of-project workshop were satisfied with the sequence of treatments for axillary hyperhidrosis identified as being cost-effective. All patient advisors considered that the Hyperhidrosis Quality of Life Index was superior to other tools commonly used in hyperhidrosis research for assessing quality of life.LimitationsThe evidence for the clinical effectiveness and safety of second-line treatments for primary hyperhidrosis is limited. This meant that there was insufficient evidence to draw conclusions for most interventions assessed and the cost-effectiveness analysis was restricted to hyperhidrosis of the axilla.Future workBased on anecdotal evidence and inference from evidence for the axillae, participants agreed that a trial of BTX (with anaesthesia) compared with iontophoresis for palmar hyperhidrosis would be most useful. The VOI analysis indicates that further research into the effectiveness of existing medications might be worthwhile, but it is unclear that such trials are of clinical importance. Research that established a robust estimate of the annual incidence of axillary hyperhidrosis in the UK population would reduce the uncertainty in future VOI analyses.Study registrationThis study is registered as PROSPERO CRD42015027803.FundingThe National Institute for Health Research Health Technology Assessment programme.


2020 ◽  
Author(s):  
Talha Tahir ◽  
Melanie Mitsui Wong ◽  
Rabia Tahir ◽  
Michael Mitsui Wong

AbstractIntroductionMammography-based breast cancer screening is an important aspect of female breast cancer prevention within the Canadian healthcare system. The current literature on female breast cancer screening is largely focused on the health outcomes that result from screening. There is comparatively little data on the cost-effectiveness of the screening. Therefore, this paper sought to conduct a systematic review of the literature on the cost effectiveness of mammography-based breast cancer screening within female Canadian populations.Materials and methodsA systematic review was performed in the PubMed database to identify all studies published within the last 10 years that addressed breast cancer screening and evaluate cost-effectiveness in a Canadian population.ResultsThe search yielded five studies for inclusion, only three of which were applicable to average-risk Canadian women. The benefits of mortality reduction rose approximately linearly with costs, while costs were linearly dependent on the number of lifetime screens per woman. Moreover, triennial screening for average-risk women aged 50-69 years was found to be the most cost-effective in terms of cost per quality adjusted life year. The use of MRI in conjunction with mammography for women with the BRCA 1/2 mutation was found to be cost-effective while annual mammography-based screening for women with dense breasts was found to be cost-ineffective.ConclusionIn spite of the growing interest to enhance breast cancer screening programs, analyses of the cost-effectiveness of mammography-based screening within Canadian populations are scarcely reported and have heterogeneous methodologies. The existing data suggests that Canada’s current breast cancer screening policy to screen average-risk women aged 50-74, biennially or triennially is cost-effective. These findings could be of interest to health policy makers when making decisions regarding resource allocation; however, further studies in this field are required in order to make stronger recommendations regarding cost-effectiveness.


2020 ◽  
Vol 8 (5) ◽  
pp. 232596712091712
Author(s):  
Thomas Tischer ◽  
Robert Lenz ◽  
Jochen Breinlinger-O’Reilly ◽  
Christoph Lutter

Background: Cost analysis studies in medicine were uncommon in the past, but with the rising importance of financial considerations, it has become increasingly important to use available resources most efficiently. Purpose: To analyze the current state of cost-effectiveness analyses in shoulder surgery. Study Design: Systematic review; Level of evidence, 4. Methods: A systematic review of the current literature was performed following PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. All full economic analyses published since January 1, 2010 and including the terms “cost analysis” and “shoulder” were checked for usability. The methodological quality of the studies was assessed using the Oxford Centre for Evidence-Based Medicine levels of evidence and established health economic criteria (Quality of Health Economic Studies [QHES] instrument). Results: A total of 34 studies fulfilled the inclusion criteria. Compared with older studies, recent studies were of better quality: one level 1 study and eight level 2 studies were included. The mean QHES score was 87 of 100. The thematic focus of most studies (n = 13) was rotator cuff tears, with the main findings as follows: (1) magnetic resonance imaging is a cost-effective imaging strategy, (2) primary (arthroscopic) rotator cuff repair (RCR) with conversion to reverse total shoulder arthroplasty in case of failure is the most cost-effective strategy, (3) the platelet-rich plasma augmentation of RCR seems not to be cost-effective, and (4) the cost-effectiveness of double-row RCR remains unclear. Other studies included shoulder instability (n = 3), glenohumeral osteoarthritis (n = 3), proximal humeral fractures (n = 4), subacromial impingement (n = 4), and other shoulder conditions (n = 7). Conclusion: Compared with prior studies, the quality of recently available studies has improved significantly. Current studies could help decision makers to appropriately and adequately allocate resources. The optimal use of financial resources will be of increasing importance to improve medical care for patients. However, further studies are still necessary.


2021 ◽  
Author(s):  
Jerry Zeng Yang Wong ◽  
Jia Hui Chai ◽  
Yen Shing Yeoh ◽  
Nur Khaliesah Mohamed Riza ◽  
Jenny Liu ◽  
...  

Abstract BackgroundThis study aimed to evaluate the cost effectiveness of a breast cancer screening programme that incorporates genetic testing using breast cancer associated single nucleotide polymorphisms (SNPs) in Singapore, against the current biennial mammogram only screening programme.MethodsA Markov model was used to compare the costs and health outcomes of the current screening programme, against a polygenic risk tailored screening programme that advises long term screening depending polygenic risk. The model took the perspective of the healthcare system, with a time horizon of 40 years, following women from the age of 35 to 74. Epidemiological and cost data was taken from Asian studies. An annual discount rate of 3% was used. The model outcome was the incremental cost-effectiveness ratio (ICER), calculated from the difference in costs per quality adjusted life year (QALY). Scenarios with varying risk thresholds for each polygenic risk group were examined. One-way and probabilistic sensitivity analyses were performed to assess parameter uncertainty.ResultsThe ICER for a polygenic risk tailored breast cancer screening programme, compared to the current biennial mammogram only screening programme, was -3,713.80, with incremental costs <0 and incremental effects >0. Scenario analysis of different polygenic risk cutoffs showed that the ICERs remain negative, with all ICERs falling within the south east quadrant of the cost effectiveness plane, indicating that tailored screening dominates mammogram only screening with lower costs and higher QALYs. This suggests that a polygenic risk tailored breast cancer screening programme is cost effective, being cheaper than the current mammogram only programme while bringing no additional harm to women.ConclusionResults from this cost effectiveness analysis show that polygenic risk tailored screening is cost effective with an ICER of –3,713.80 SGD/QALY. Tailored screening remains cost effective even when varying percentile cutoffs for each risk group. While the results look promising for incorporating polygenic risk into the current breast cancer screening programme, further studies should be conducted due to various limitations.


2009 ◽  
Vol 89 (8) ◽  
pp. 733-755 ◽  
Author(s):  
Laura E. Peterson ◽  
Clifford Goodman ◽  
Erin K. Karnes ◽  
Charlene J. Chen ◽  
J. Amanda Schwartz

Background Policy makers, payers, and other stakeholders increasingly call for greater evidence of the cost-effectiveness of health care interventions. Objective The purposes of this study were to identify and rate the quality of cost analysis literature in physical therapy and to report summary information on the findings from the reviewed studies. Design This study was a targeted literature review and rating of relevant studies published in the last decade using a quality evaluation tool for economic studies. Measurements The Quality of Health Economic Studies (QHES) instrument was used to obtain quality scores. Results Ninety-five in-scope studies were identified and rated using the QHES instrument. The average quality score was 82.2 (SD=15.8), and 81 of the studies received a score of 70 or higher, placing them in the “good” to “excellent” quality range. Investigators in nearly two thirds of the studies found the physical therapy intervention under investigation to be cost-effective. Limitations The small number of studies meeting the inclusion criteria was a limitation of the study. Conclusions The quality of the literature regarding the cost-effectiveness of physical therapy is very good, although the magnitude of this body of literature is small. Greater awareness of the strengths and limitations of cost analyses in physical therapy should provide guidance for conducting high-quality cost-effectiveness studies as demand increases for demonstrations of the value of physical therapy.


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