- Title
- Lynch syndrome testing of colorectal cancer patients in a high-income country with universal healthcare: a retrospective study of current practice and gaps in seven australian hospitals
- Creator
- Steinberg, Julia; Chan, Priscilla; Pearn, Amy; Nichols, Cassandra; McKay, Skye; Hayward, Anne; Egoroff, Natasha; Engel, Alexander; Gibbs, Peter; Goodwin, Annabel; Harris, Marion; Kench, James G.; Hogden, Emily; Pachter, Nicholas; Parkinson, B; Pockney, Peter; Ragunathan, A; Smyth, C; Solomon, M; Steffens, D; Toh, JWT; Wallace, M; Canfell, K; Tiernan, Gabriella; Gill, A; Macrae, F; Tucker, K; Taylor, N; Morrow, April; Kang, Yoon-Jung; He, Emily; Venchiarutti, Rebecca; Titterton, Leanna; Sankey, Lucien
- Relation
- Herediatry Cancer in Clinical Practice Vol. 20, Issue 4 May 2022, no. 18
- Publisher Link
- http://dx.doi.org/10.1186/s13053-022-00225-1
- Publisher
- BioMed Central (BMC)
- Resource Type
- journal article
- Date
- 2022
- Description
- Background: To inform effective genomic medicine strategies, it is important to examine current approaches and gaps in well-established applications. Lynch syndrome (LS) causes 3-5% of colorectal cancers (CRCs). While guidelines commonly recommend LS tumour testing of all CRC patients, implementation in health systems is known to be highly variable. To provide insights on the heterogeneity in practice and current bottlenecks in a high-income country with universal healthcare, we characterise the approaches and gaps in LS testing and referral in seven Australian hospitals across three states. Methods: We obtained surgery, pathology, and genetics services data for 1,624 patients who underwent CRC resections from 01/01/2017 to 31/12/2018 in the included hospitals. Results: Tumour testing approaches differed between hospitals, with 0-19% of patients missing mismatch repair deficiency test results (total 211/1,624 patients). Tumour tests to exclude somatic MLH1 loss were incomplete at five hospitals (42/187 patients). Of 74 patients with tumour tests completed appropriately and indicating high risk of LS, 36 (49%) were missing a record of referral to genetics services for diagnostic testing, with higher missingness for older patients (0% of patients aged ≤ 40 years, 76% of patients aged > 70 years). Of 38 patients with high-risk tumour test results and genetics services referral, diagnostic testing was carried out for 25 (89%) and identified a LS pathogenic/likely pathogenic variant for 11 patients (44% of 25; 0.7% of 1,624 patients). Conclusions: Given the LS testing and referral gaps, further work is needed to identify strategies for successful integration of LS testing into clinical care, and provide a model for hereditary cancers and broader genomic medicine. Standardised reporting may help clinicians interpret tumour test results and initiate further actions.
- Subject
- Lynch syndrome; mismatch repair; tumour testing; genetics services referrral; bottleneck; gap; SDG 3; SDG 10; Sustainable Development Goals
- Identifier
- http://hdl.handle.net/1959.13/1486046
- Identifier
- uon:51759
- Identifier
- ISSN:1731-2302
- Rights
- © The Author(s). 2022 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
- Language
- eng
- Full Text
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