scholarly journals Economic Evaluation of Universal Lynch Syndrome Screening Protocols among Newly Diagnosed Patients with Colorectal Cancer

2021 ◽  
Vol 11 (12) ◽  
pp. 1284
Author(s):  
Jing Hao ◽  
Dina Hassen ◽  
James M. Gudgeon ◽  
Susan R. Snyder ◽  
Heather Hampel ◽  
...  

We conducted an updated economic evaluation, from a healthcare system perspective, to compare the relative effectiveness and efficiency of eight Lynch syndrome (LS) screening protocols among newly diagnosed colorectal cancer (CRC) patients. We developed decision analytic models for a hypothetical cohort of 1000 patients. Model assumptions and parameter values were based on literature and expert opinion. All costs were in 2018 USD. For identifying LS cases, the direct germline sequencing (DGS) protocol provided the best performance (sensitivity 99.90%, 99.57–99.93%; specificity 99.50%, 97.28–99.85%), followed by the tumor sequencing to germline sequencing (TSGS) protocol (sensitivity, 99.42%, 96.55–99.63%; specificity, 96.58%, 96.46–96.60%). The immunohistochemistry (IHC) protocol was most efficient at $20,082 per LS case identified, compared to microsatellite instability (MSI) ($22,988), DGS ($31,365), and TSGS ($104,394) protocols. Adding double-somatic testing to IHC and MSI protocols did not change sensitivity and specificity, increased costs by 6% and 3.5%, respectively, but reduced unexplained cases by 70% and 50%, respectively. DGS would be as efficient as the IHC protocol when the cost of germline sequencing declines under $368 indicating DGS could be an efficient option in the near future. Until then, IHC and MSI protocols with double-somatic testing would be the optimal choices.

2021 ◽  
Vol 14 (4) ◽  
Author(s):  
Hananeh Azardoost ◽  
Farimah Rahimi ◽  
Mehrdad Zeinalian ◽  
Reza Rezayatmand

Background: Identifying Lynch syndrome (LS) in patients with colorectal cancer (CRC) and monitoring their relatives can increase the life expectancy of these patients. Objectives: The aim of this study was to analyze the cost-effectiveness of 5 molecular testing strategies to screen LS among patients with newly diagnosed CRC and to conduct preventive surveillance in their first-degree relatives. Methods: A decision tree model was designed to identify the number of LS mutations and the related costs in the CRC patients. Five strategies were modeled, i.e., Amsterdam II criteria, microsatellite instability (MSI) testing, immunohistochemistry (IHC), and next-generation sequencing (NGS). A Marko model was also used to estimate the long-term outcome of monitoring (including colonoscopy and taking aspirin) among relatives of those patients with CRC who carried LS. Results: All strategies were cost-effective compared with no testing condition. The 2 most cost-effective strategies were strategy 2 (IHC testing followed by NGS testing) and strategy 4 (MSI testing followed by NGS testing), with the ICER of 4,604$ and 4,748$ per quality-adjusted life year (QALY), respectively. Based on one-way sensitivity analysis of IHC sensitivity, the Cost of colonoscopy, MSI sensitivity, and the number of families who inherited LS had the most effect on the results. Conclusions: The findings suggested that from an Iranian health care system perspective, IHC testing followed by NGS testing could be regarded as the most cost-effective strategy compared to the other strategies. These results can be useful in offering to screen LS in newly diagnosed CRC patients.


2021 ◽  
Vol 24 ◽  
pp. S25
Author(s):  
J. Hao ◽  
D. Hassen ◽  
J.M. Gudgeon ◽  
S. Snyder ◽  
H. Hampel ◽  
...  

2011 ◽  
Vol 14 (1) ◽  
pp. 152-162 ◽  
Author(s):  
Cecelia A. Bellcross ◽  
Sara R. Bedrosian ◽  
Elvan Daniels ◽  
Debra Duquette ◽  
Heather Hampel ◽  
...  

2012 ◽  
Vol 30 (34_suppl) ◽  
pp. 98-98
Author(s):  
Minggui Pan ◽  
Elizabeth Hoodfar ◽  
JoAnn Bergoffen ◽  
Regan Fulton ◽  
Laura Hofmeister ◽  
...  

98 Background: Identifying patients with Lynch syndrome has profound impact on the clinical care of patients and their families. Previous guidelines based on family history alone have shown low sensitivity. In our medical center, the detection rate of Lynch syndrome was <1% among colorectal cancer cases. Methods: We have developed a system-based algorithm using centralized testing by immunohistochemistry (IHC) for four mismatched repair (MMR) proteins (MLH1, MSH2, MSH6, and PMS2) as a screening method for all newly diagnosed colorectal cancer patients, followed by step wise testing of BRAF mutation, MLH1 promoter hypermethylation, +/- microsatellite instability, and germline mutation. Results: From April 1, 2011, to July 11, 2012, we have screened 116 patients. IHC detected absent expression of at least one of the MMR proteins in 18 cases. Three cases showed missing expression of MSH2/MSH6 and the presence of a germline mutation in MSH6 was confirmed in two cases. The newest case is still being investigated for germline mutation. Of the remaining 15 cases, 10 showed the presence of BRAF V600E mutation, two showed hypermethylation of the MLH1 promoter, and one showed germline MLH1 mutation. Two cases showed no BRAF V600E mutation, no MLH1 promoter hypermethylation or germline gene mutation. Overall, of 116 cases, three cases have confirmed Lynch syndrome with the detection of a germline mutation, two cases most likely have Lynch syndrome but without any detectable germline mutation of MLH1 or PMS2 using the current detecting methods. Conclusions: Our system-based screening algorithm using reflex immunohistochemistry of four MMR proteins has resulted in excellent detection rate of approximately 4% to 5% (5 out of 116 cases), consistent with the expected Lynch syndrome prevalence rate in the population. This represents a marked improvement over our previous family history-based approach in Lynch syndrome screening.


2000 ◽  
Vol 7 (1) ◽  
pp. 31-34 ◽  
Author(s):  
G. Robert ◽  
J. Brown ◽  
L. Garvican

Objective To estimate the costs of a quality management (QM) system as proposed by the Quality Management for Screening report for a future national colorectal cancer screening programme. Methods Estimates of the costs of the QM system, including the associated costs of education and training and information provision, were based on expert opinion, the existing literature, and the experience of the current National Health Service (NHS) breast cancer screening programme (BSP) and the NHS cervical cancer screening programme (CSP). Results The cost of a QM system to support a national colorectal cancer programme in the UK was estimated as approximately £3.8 million a year. Further annual costs related to QM will include £500 000 for education and training and £200 000 for information provision. Adding these additional costs to a previously published UK economic evaluation of colorectal cancer screening increases the cost-utility ratio to approximately £6500 per quality adjusted life year gained (over an eight year follow up period). Conclusions Any new screening programme, or an existing one, must have QM to ensure that the quality of screening is high and to maintain the right balance between benefit and harm. The significant costs of such a QM system should be included in any economic evaluation of a screening programme.


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