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

Julia Steinberg; Priscilla Chan; Emily Hogden; Gabriella Tiernan; April Morrow; Yoon-Jung Kang; Emily He; Rebecca Venchiarutti; Leanna Titterton; Lucien Sankey; Amy Pearn; Cassandra Nichols; Skye McKay; Anne Hayward; Natasha Egoroff; Alexander Engel; Peter Gibbs; Annabel Goodwin; Marion Harris; James G. Kench; Nicholas Pachter; Bonny Parkinson; Peter Pockney; Abiramy Ragunathan; Courtney Smyth; Michael J. Solomon; Daniel Steffens; James Wei Tatt Toh; Marina Wallace; Karen Canfell; Anthony Gill; Finlay Macrae; Kathy Tucker; Natalie Taylor

doi:10.1186/s13053-022-00225-1

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

Julia Steinberg, Priscilla Chan, Emily Hogden, Gabriella Tiernan, April Morrow, Yoon-Jung Kang, Emily He, Rebecca Venchiarutti, Leanna Titterton, Lucien Sankey, Amy Pearn, Cassandra Nichols, Skye McKay, Anne Hayward, Natasha Egoroff, Alexander Engel, Peter Gibbs, Annabel Goodwin, Marion Harris, James G. KenchNicholas Pachter, Bonny Parkinson, Peter Pockney, Abiramy Ragunathan, Courtney Smyth, Michael J. Solomon, Daniel Steffens, James Wei Tatt Toh, Marina Wallace, Karen Canfell, Anthony Gill, Finlay Macrae, Kathy Tucker, Natalie Taylor

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Abstract

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.

Original language	English
Article number	18
Pages (from-to)	1-8
Number of pages	8
Journal	Hereditary Cancer in Clinical Practice
Volume	20
Issue number	1
DOIs	https://doi.org/10.1186/s13053-022-00225-1
Publication status	Published - 4 May 2022

Bibliographical note

Keywords

Bottleneck
Gap
Genetics services referral
Heterogeneity in practice
Lynch syndrome
Medical records
Mismatch repair
Tumour testing

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10.1186/s13053-022-00225-1Licence: CC BY

Publisher version (open access)Final published version, 879 KBLicence: CC BY

Cite this

Steinberg, J., Chan, P., Hogden, E., Tiernan, G., Morrow, A., Kang, Y.-J., He, E., Venchiarutti, R., Titterton, L., Sankey, L., Pearn, A., Nichols, C., McKay, S., Hayward, A., Egoroff, N., Engel, A., Gibbs, P., Goodwin, A., Harris, M., ... Taylor, N. (2022). 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. Hereditary Cancer in Clinical Practice, 20(1), 1-8. Article 18. https://doi.org/10.1186/s13053-022-00225-1

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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",

abstract = "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.",

keywords = "Bottleneck, Gap, Genetics services referral, Heterogeneity in practice, Lynch syndrome, Medical records, Mismatch repair, Tumour testing",

author = "Julia Steinberg and Priscilla Chan and Emily Hogden and Gabriella Tiernan and April Morrow and Yoon-Jung Kang and Emily He and Rebecca Venchiarutti and Leanna Titterton and Lucien Sankey and Amy Pearn and Cassandra Nichols and Skye McKay and Anne Hayward and Natasha Egoroff and Alexander Engel and Peter Gibbs and Annabel Goodwin and Marion Harris and Kench, {James G.} and Nicholas Pachter and Bonny Parkinson and Peter Pockney and Abiramy Ragunathan and Courtney Smyth and Solomon, {Michael J.} and Daniel Steffens and {Wei Tatt Toh}, James and Marina Wallace and Karen Canfell and Anthony Gill and Finlay Macrae and Kathy Tucker and Natalie Taylor",

note = "{\textcopyright} The Author(s) 2022. Version archived for private and non-commercial use with the permission of the author/s and according to publisher conditions. For further rights please contact the publisher.",

year = "2022",

month = may,

day = "4",

doi = "10.1186/s13053-022-00225-1",

language = "English",

volume = "20",

pages = "1--8",

journal = "Hereditary Cancer in Clinical Practice",

issn = "1731-2302",

publisher = "Springer, Springer Nature",

number = "1",

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Steinberg, J, Chan, P, Hogden, E, Tiernan, G, Morrow, A, Kang, Y-J, He, E, Venchiarutti, R, Titterton, L, Sankey, L, Pearn, A, Nichols, C, McKay, S, Hayward, A, Egoroff, N, Engel, A, Gibbs, P, Goodwin, A, Harris, M, Kench, JG, Pachter, N, Parkinson, B, Pockney, P, Ragunathan, A, Smyth, C, Solomon, MJ, Steffens, D, Wei Tatt Toh, J, Wallace, M, Canfell, K, Gill, A, Macrae, F, Tucker, K & Taylor, N 2022, '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', Hereditary Cancer in Clinical Practice, vol. 20, no. 1, 18, pp. 1-8. https://doi.org/10.1186/s13053-022-00225-1

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. / Steinberg, Julia; Chan, Priscilla; Hogden, Emily et al.
In: Hereditary Cancer in Clinical Practice, Vol. 20, No. 1, 18, 04.05.2022, p. 1-8.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - Lynch syndrome testing of colorectal cancer patients in a high-income country with universal healthcare

T2 - a retrospective study of current practice and gaps in seven Australian hospitals

AU - Steinberg, Julia

AU - Chan, Priscilla

AU - Hogden, Emily

AU - Tiernan, Gabriella

AU - Morrow, April

AU - Kang, Yoon-Jung

AU - He, Emily

AU - Venchiarutti, Rebecca

AU - Titterton, Leanna

AU - Sankey, Lucien

AU - Pearn, Amy

AU - Nichols, Cassandra

AU - McKay, Skye

AU - Hayward, Anne

AU - Egoroff, Natasha

AU - Engel, Alexander

AU - Gibbs, Peter

AU - Goodwin, Annabel

AU - Harris, Marion

AU - Kench, James G.

AU - Pachter, Nicholas

AU - Parkinson, Bonny

AU - Pockney, Peter

AU - Ragunathan, Abiramy

AU - Smyth, Courtney

AU - Solomon, Michael J.

AU - Steffens, Daniel

AU - Wei Tatt Toh, James

AU - Wallace, Marina

AU - Canfell, Karen

AU - Gill, Anthony

AU - Macrae, Finlay

AU - Tucker, Kathy

AU - Taylor, Natalie

N1 - © The Author(s) 2022. Version archived for private and non-commercial use with the permission of the author/s and according to publisher conditions. For further rights please contact the publisher.

PY - 2022/5/4

Y1 - 2022/5/4

N2 - 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.

AB - 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.

KW - Bottleneck

KW - Gap

KW - Genetics services referral

KW - Heterogeneity in practice

KW - Lynch syndrome

KW - Medical records

KW - Mismatch repair

KW - Tumour testing

UR - http://www.scopus.com/inward/record.url?scp=85129451475&partnerID=8YFLogxK

U2 - 10.1186/s13053-022-00225-1

DO - 10.1186/s13053-022-00225-1

M3 - Article

C2 - 35509103

SN - 1731-2302

VL - 20

SP - 1

EP - 8

JO - Hereditary Cancer in Clinical Practice

JF - Hereditary Cancer in Clinical Practice

IS - 1

M1 - 18

ER -

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

Abstract

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Hide and seek with hereditary cancer: Improving detection of colorectal cancer patients with a high risk of Lynch syndrome

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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

Abstract

Bibliographical note

Keywords

Access to Document

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Hide and seek with hereditary cancer: Improving detection of colorectal cancer patients with a high risk of Lynch syndrome

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