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
AU - Steffens, Daniel
AU - Toh, James Wei Tatt
AU - Wallace, Marina
AU - Canfell, Karen
AU - Gill, Anthony
AU - Macrae, Finlay
AU - Tucker, Kathy
AU - Taylor, Natalie
N1 - Funding Information:
This study is funded by Cancer Institute NSW (2017/CDF005) and Cancer Australia (1123924). The contents of this publication are solely the responsibility of the authors and do not reflect the views of Cancer Australia.
Publisher Copyright:
© 2022, The Author(s).
PY - 2022/12
Y1 - 2022/12
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
AN - SCOPUS:85129451475
SN - 1731-2302
VL - 20
JO - Hereditary Cancer in Clinical Practice
JF - Hereditary Cancer in Clinical Practice
IS - 1
M1 - 18
ER -
