Costs and outcomes of Lynch syndrome screening in the Australian colorectal cancer population

Cenin, Dayna R.; Naber, Steffie K.; Lansdorp–Vogelaar, Iris; Jenkins, Mark A.; Buchanan, Daniel D.; Preen, David B.; Ee, Hooi C.; O’Leary, Peter

doi:10.1111/jgh.14154

Cited by 13 publications

(11 citation statements)

References 33 publications

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“…57 Cenin and colleagues evaluated and compared the cost and benefit of offering Lynch syndrome testing in cases of colorectal cancer diagnosed at ages <50, <60 or <70 years, and at any age. 60 Findings indicated that Lynch syndrome testing in colorectal cancer cases diagnosed at <70 years would detect more Lynch syndrome cases at a reasonable cost; testing in older ages would not identify more Lynch syndrome cases at a much higher cost. 60 from age 50 to age 69, and offered further investigation if total PSA is greater than 3.0 ng/mL'.…”

Section: Lynch Syndromementioning

confidence: 99%

“…60 Findings indicated that Lynch syndrome testing in colorectal cancer cases diagnosed at <70 years would detect more Lynch syndrome cases at a reasonable cost; testing in older ages would not identify more Lynch syndrome cases at a much higher cost. 60 from age 50 to age 69, and offered further investigation if total PSA is greater than 3.0 ng/mL'. 48 An Australian study used a single-cohort Markov model to evaluate the cost-effectiveness of 4-yearly PSA testing versus no testing for men at average risk, high risk (two times the average risk) and very high risk (five times the average risk) for prostate cancer.…”

Section: Lynch Syndromementioning

confidence: 99%

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Benefits, harms and cost-effectiveness of cancer screening in Australia: an overview of modelling estimates

Lew¹,

Feletto²,

Wade³

et al. 2019

Public Health Res Pract

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Introduction: There are three government-funded population-based screening programs in Australia-the national breast cancer screening program (BreastScreen Australia), the National Cervical Screening Program (NCSP), and the National Bowel Cancer Screening Program (NBCSP). Options for early detection of other cancers (e.g. hepatocellular carcinoma and melanoma) are under investigation. This study provides an overview of the health benefits, harms and cost-effectiveness of population-level breast, cervical and colorectal cancer screening, targeted-risk screening for lung cancer and Lynch syndrome, and prostate specific antigen (PSA) testing in Australia. Methods: The study reviewed and, where possible, updated the estimated health benefits, harms and cost-effectiveness of screening approaches from modelling studies for four cancer types, PSA testing and Lynch syndrome testing in Australia. Costs are presented in 2018 Australian dollars. Results: The renewed NCSP (for women not HPV-vaccinated) and the NBCSP were estimated to be cost-effective versus no screening; the cost-effectiveness ratio (CER)

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Section: Lynch Syndromementioning

confidence: 99%

Section: Lynch Syndromementioning

confidence: 99%

Benefits, harms and cost-effectiveness of cancer screening in Australia: an overview of modelling estimates

Lew¹,

Feletto²,

Wade³

et al. 2019

Public Health Res Pract

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“…The Royal College of Pathologists of Australasia recently submitted an application to the Medical Services Advisory Committee requesting funding of germline gene panel testing for heritable mutations associated with increased risk of CRC and endometrial cancer; the panel of 11 genes includes the four MMR genes and the epithelial cell adhesion molecule gene ( EPCAM ) . Two recent economic evaluations in Australia found that routine LS testing of people with incident CRC can be cost‐effective . However, no published assessment of systematic LS testing in Australia has taken into account all feasible combinations of relevant testing and triage options, including those for somatic mutation testing after dMMR immunohistochemistry or microsatellite instability testing.…”

mentioning

confidence: 99%

The predicted impact and cost‐effectiveness of systematic testing of people with incident colorectal cancer for Lynch syndrome

Kang

Killen

Caruana

et al. 2019

Medical Journal of Australia

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Objectives:To evaluate the health impact and cost-effectiveness of systematic testing for Lynch syndrome (LS) in people with incident colorectal cancer (CRC) in Australia.Design, setting, participants: We investigated the impact of LS testing strategies in a micro-simulation model (Policy1-Lynch), explicitly modelling the cost of testing all patients diagnosed with incident CRC during 2017, with detailed modelling of outcomes for patients identified as LS carriers (probands) and their at-risk relatives throughout their lifetimes. For people with confirmed LS, we modelled ongoing colonoscopic surveillance. Main outcome measures:Cost-effectiveness of six universal tumour testing strategies (testing for DNA mismatch repair deficiencies) and of universal germline gene panel testing of patients with incident CRC; impact on cost-effectiveness of restricting testing by age at CRC diagnosis (all ages, under 50/60/70 years) and of colonoscopic surveillance interval (one, two years). Results:The cost-effectiveness ratio of universal tumour testing strategies (annual colonoscopic surveillance, no testing age limit) compared with no testing ranged from $28 915 to $31 904/life-year saved (LYS) (indicative willingness-to-pay threshold: $30 000-$50 000/LYS). These strategies could avert 184-189 CRC deaths with an additional 30 597-31 084 colonoscopies over the lifetimes of 1000 patients with incident CRC with LS and 1420 confirmed LS carrier relatives (164-166 additional colonoscopies/death averted). The most cost-effective strategy was immunohistochemistry and BRAF V600E testing (incremental cost-effectiveness ratio [ICER], $28 915/LYS). Universal germline gene panel testing was not costeffective compared with universal tumour testing strategies (ICER, $2.4 million/LYS). Immunohistochemistry and BRAF V600E testing was cost-effective at all age limits when paired with 2-yearly colonoscopic surveillance (ICER, $11 525-$32 153/LYS), and required 4778-15 860 additional colonoscopies to avert 46-181 CRC deaths (88-103 additional colonoscopies/death averted). Conclusions:Universal tumour testing strategies for guiding germline genetic testing of people with incident CRC for LS in Australia are likely to be cost-effective compared with no testing. Universal germline gene panel testing would not currently be cost-effective.The known: Testing people with colorectal cancer for Lynch syndrome has been found to be cost-effective in some developed countries.The new: In the first Australian cost-effectiveness evaluation of systematic testing for Lynch syndrome in people with incident colorectal cancer that included all feasible combinations of relevant testing and triage options, the cost-effectiveness ratios for universal tumour testing strategies for identifying mismatch repair deficiency (dMMR), compared with not testing, were similar. Universal gene panel testing was not cost-effective compared with universal tumour testing strategies.The implications: Our analysis supports routine dMMR tumour testing of people with incident colorectal ...

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“…The performance and efficiency of different diagnostic strategies for LS have been analyzed by several systematic reviews and cost‐effectiveness studies 27‐31 . Although accounting for patients' age as a parameter, these studies primarily focused on the upper age limit of testing tumors for MSI.…”

Section: Discussionmentioning

confidence: 99%

Age‐dependent performance of BRAF mutation testing in Lynch syndrome diagnostics

Bläker

Haupt

Morak

et al. 2020

Intl Journal of Cancer

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BRAF V600E mutations have been reported as a marker of sporadic microsatellite instability (MSI) colorectal cancer (CRC). Current international diagnostic guidelines recommend BRAF mutation testing in MSI CRC patients to predict low risk of Lynch syndrome (LS). We evaluated the age-specific performance of BRAF testing in LS diagnostics. We systematically compared the prevalence of BRAF mutations in LS-associated CRCs and unselected MSI CRCs in different age groups as available from published studies, databases and population-based patient cohorts. Sensitivity/specificity analysis of BRAF testing for exclusion of LS and cost calculations were performed. Among 969 MSI CRCs from LS carriers in the literature and German HNPCC Consortium, 15 (1.6%) harbored BRAF mutations. Six of seven LS patients with BRAF-mutant CRC and reported age were <50 years. Among 339 of 756 (44.8%) of BRAF mutations detected in unselected MSI CRC, only 2 of 339 (0.6%) BRAF mutations were detected in patients <50 years. The inclusion of BRAF testing led to high risk of missing LS patients and increased costs at age <50 years. BRAF testing in patients <50 years carries a high risk of missing a hereditary cancer predisposition and is cost-inefficient. We suggest direct referral of MSI CRC patients <50 years to genetic counseling without BRAF testing.

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Costs and outcomes of Lynch syndrome screening in the Australian colorectal cancer population

Cited by 13 publications

References 33 publications

Benefits, harms and cost-effectiveness of cancer screening in Australia: an overview of modelling estimates

Benefits, harms and cost-effectiveness of cancer screening in Australia: an overview of modelling estimates

The predicted impact and cost‐effectiveness of systematic testing of people with incident colorectal cancer for Lynch syndrome

Age‐dependent performance of BRAF mutation testing in Lynch syndrome diagnostics

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