Cost-effectiveness of routine screening for Lynch syndrome in endometrial cancer patients up to 70 years of age

Goverde, Angelique J.; Spaander, Manon C.W.; Doorn, Helena C. van; Dubbink, Hendrikus J.; Ouweland, Ans Mw van den; Tops, Sophie; Waard, Judith de; Hoedemaeker, Robert F.; Bruno, Marco J.; Hofstra, Robert M.W.; Bekker‐Grob, Esther W. de; Dinjens, Winand N.M.; Wagner, Anja

doi:10.1016/j.ygyno.2016.10.008

Cited by 44 publications

(72 citation statements)

References 42 publications

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“…In tumor-first GC models, genetic screening is first performed on a sample of tumor tissue, often as part of a pathology workflow, with GC offered based on the tumor results. A total of 26 publications from six countries that reviewed patient outcomes of tumor testing were identified ( Table 7 ) [ 78 , 79 , 80 , 81 , 82 , 83 , 84 , 85 , 86 , 87 , 88 , 89 , 90 , 91 , 92 , 93 , 94 , 95 , 96 , 97 , 98 , 99 , 100 , 101 , 102 , 103 ]. In total, 23 publications [ 78 , 79 , 80 , 81 , 82 , 83 , 84 , 85 , 86 , 87 , 88 , 89 , 90 , 91 , 92 , 93 , 94 , 95 , 96 , 97 , 98 , 99 , 100 ], including four abstracts [ 90 , ...…”

Section: Resultsmentioning

confidence: 99%

“…In total, 23 publications [ 78 , 79 , 80 , 81 , 82 , 83 , 84 , 85 , 86 , 87 , 88 , 89 , 90 , 91 , 92 , 93 , 94 , 95 , 96 , 97 , 98 , 99 , 100 ], including four abstracts [ 90 , 92 , 93 , 96 ], assessed patient outcomes of immunohistochemistry and/or the microsatellite instability testing of tumor tissue as an initial screening test for Lynch syndrome. Ten out of 15 studies reporting the rate of GC referral following abnormal tumor screening for Lynch syndrome reported a 100% GC referral rate [ 79 , 80 , 85 , 86 , 88 , 90 , 94 , 96 , 99 , 100 ]; however, one study reported an 18% referral rate [ 82 ]. Referral rates increased when a genetic counselor or navigator was directly involved in the screening protocol, and when patients had additional features suggestive of Lynch syndrome [ 79 , 82 , 86 , 100 ].…”

Section: Resultsmentioning

confidence: 99%

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Next-Generation Service Delivery: A Scoping Review of Patient Outcomes Associated with Alternative Models of Genetic Counseling and Genetic Testing for Hereditary Cancer

McCuaig

Armel

Care

et al. 2018

Cancers

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The combination of increased referral for genetic testing and the current shortage of genetic counselors has necessitated the development and implementation of alternative models of genetic counseling and testing for hereditary cancer assessment. The purpose of this scoping review is to provide an overview of the patient outcomes that are associated with alternative models of genetic testing and genetic counseling for hereditary cancer, including germline-only and tumor testing models. Seven databases were searched, selecting studies that were: (1) full-text articles published ≥2007 or conference abstracts published ≥2015, and (2) assessing patient outcomes of an alternative model of genetic counseling or testing. A total of 79 publications were included for review and synthesis. Data-charting was completed using a data-charting form that was developed by the study team for this review. Seven alternative models were identified, including four models that involved a genetic counselor: telephone, telegenic, group, and embedded genetic counseling models; and three models that did not: mainstreaming, direct, and tumor-first genetic testing models. Overall, these models may be an acceptable alternative to traditional models on knowledge, patient satisfaction, psychosocial measures, and the uptake of genetic testing; however, particular populations may be better served by traditional in-person genetic counseling. As precision medicine initiatives continue to advance, institutions should consider the implementation of new models of genetic service delivery, utilizing a model that will best serve the needs of their unique patient populations.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Next-Generation Service Delivery: A Scoping Review of Patient Outcomes Associated with Alternative Models of Genetic Counseling and Genetic Testing for Hereditary Cancer

McCuaig

Armel

Care

et al. 2018

Cancers

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“…2,34,36 Later, universal screening using MMR IHC 7,45 and/or MSI analysis 36,46 (±age limitation) prevailed over these demographic selections. The earlier screening strategy desensitized the LS detection ratio when compared to universal screening (eg, the revised Bethesda guideline gave a rate of 0%-50% 5,7,47 and the Society of Gynecologic Oncology criteria gave a rate of 43% 15 in the setting of 100% sensitivity by universal screening). These data were compatible with the current result of no difference in the ratio of colorectal cancer cases meeting the revised Bethesda guideline among the three variant levels.…”

Section: Discussionmentioning

confidence: 99%

Germline mismatch repair gene variants analyzed by universal sequencing in Japanese cancer patients

et al. 2019

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Background Lynch syndrome (LS) is the commonest inherited cancer syndrome caused by pathogenic variants of germline DNA mismatch repair (g.MMR) genes. Genome‐wide sequencing is now increasingly applied for tumor characterization, but not for g.MMR. The aim of this study was to evaluate the incidence and pathogenicity of g.MMR variants in Japanese cancer patients. Methods Four g.MMR genes (MLH1, MSH2, MSH6, and PMS2) were analyzed by next generation sequencing in 1058 cancer patients (614 male, 444 female; mean age 65.6 years) without past diagnosis of LS. The g.MMR variant pathogenicity was classified based on the ClinVar 2015 database. Tumor MMR immunohistochemistry, microsatellite instability (MSI), and BRAF sequencing were also investigated in specific cases. Results Overall, 46 g.MMR variants were detected in 167 (15.8%) patients, 17 likely benign variants in 119 patients, 24 variants of uncertain significance (VUSs) in 68 patients, two likely pathogenic variants in two patients, and three pathogenic variants in three (0.3%) patients. The three pathogenic variants included two colorectal cancers with MLH1 loss and high MSI and one endometrial cancer with MSH6 loss and microsatellite stability. Two likely pathogenic variants were shifted to VUSs by ClinVar (2018). One colon cancer with a likely benign variant demonstrated MLH1 loss and BRAF mutation, but other nonpathogenic variants showed sustained MMR and microsatellite stability. Conclusions Universal sequencing of g.MMR genes demonstrated sundry benign variants, but only a small proportion of cancer patients had pathogenic variants. Pathogenicity evaluation using the ClinVar database agreed with MSI, MMR immunohistochemistry, and BRAF sequencing.

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“…Universal strategy with molecular analyses in unselected CRC or EC adds diagnostic sensitivity for LS over clinical criteria, with a favorable cost-effectiveness profile [22][23][24][25]. This information has prognostic and therapeutic value for Table 1 Evidence levels and strength of recommendation Evidence levels A: High.…”

Section: Ls Diagnosismentioning

confidence: 99%

SEOM clinical guideline on hereditary colorectal cancer (2019)

et al. 2020

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In the last 2 decades, clinical genetics on hereditary colorectal syndromes has shifted from just a molecular characterization of the different syndromes to the estimation of the individual risk of cancer and appropriate risk reduction strategies. In the last years, new specific therapies for some subgroups of patients have emerged as very effective alternatives. At the same time, germline multigene panel testing by next-generation sequencing (NGS) technology has become the new gold standard for molecular genetics.

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Cost-effectiveness of routine screening for Lynch syndrome in endometrial cancer patients up to 70 years of age

Cited by 44 publications

References 42 publications

Next-Generation Service Delivery: A Scoping Review of Patient Outcomes Associated with Alternative Models of Genetic Counseling and Genetic Testing for Hereditary Cancer

Next-Generation Service Delivery: A Scoping Review of Patient Outcomes Associated with Alternative Models of Genetic Counseling and Genetic Testing for Hereditary Cancer

Germline mismatch repair gene variants analyzed by universal sequencing in Japanese cancer patients

SEOM clinical guideline on hereditary colorectal cancer (2019)

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