Abstract

BackgroundLynch syndrome is an inherited disorder associated with a range of cancers, and found in 2–5 % of colorectal cancers. Lynch syndrome is diagnosed through a combination of significant family and clinical history and pathology. The definitive diagnostic germline test requires formal patient consent after genetic counselling. If diagnosed early, carriers of Lynch syndrome can undergo increased surveillance for cancers, which in turn can prevent late stage cancers, optimise treatment and decrease mortality for themselves and their relatives. However, over the past decade, international studies have reported that only a small proportion of individuals with suspected Lynch syndrome were referred for genetic consultation and possible genetic testing. The aim of this project is to use behaviour change theory and implementation science approaches to increase the number and speed of healthcare professional referrals of colorectal cancer patients with a high-likelihood risk of Lynch syndrome to appropriate genetic counselling services.MethodsThe six-step Theoretical Domains Framework Implementation (TDFI) approach will be used at two large, metropolitan hospitals treating colorectal cancer patients. Steps are: 1) form local multidisciplinary teams to map current referral processes; 2) identify target behaviours that may lead to increased referrals using discussion supported by a retrospective audit; 3) identify barriers to those behaviours using the validated Influences on Patient Safety Behaviours Questionnaire and TDFI guided focus groups; 4) co-design interventions to address barriers using focus groups; 5) co-implement interventions; and 6) evaluate intervention impact. Chi square analysis will be used to test the difference in the proportion of high-likelihood risk Lynch syndrome patients being referred for genetic testing before and after intervention implementation. A paired t-test will be used to assess the mean time from the pathology test results to referral for high-likelihood Lynch syndrome patients pre-post intervention. Run charts will be used to continuously monitor change in referrals over time, based on scheduled monthly audits.DiscussionThis project is based on a tested and refined implementation strategy (TDFI approach). Enhancing the process of identifying and referring people at high-likelihood risk of Lynch syndrome for genetic counselling will improve outcomes for patients and their relatives, and potentially save public money.

Highlights

  • Lynch syndrome is an inherited disorder associated with a range of cancers, and found in 2–5 % of colorectal cancers

  • colorectal cancer (CRC) patients identified as being at high risk of Lynch syndrome (LS) can be referred for genetic counselling to Family Cancer Clinics (FCCs) where a definitive genetic test can be undertaken with the patient’s consent

  • Over the past decade, local and international studies have reported that only a small proportion of individuals with suspected LS were referred for genetic consultation and possible genetic testing [8, 15,16,17,18]

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Summary

Introduction

Lynch syndrome is an inherited disorder associated with a range of cancers, and found in 2–5 % of colorectal cancers. Over the past decade, international studies have reported that only a small proportion of individuals with suspected Lynch syndrome were referred for genetic consultation and possible genetic testing The aim of this project is to use behaviour change theory and implementation science approaches to increase the number and speed of healthcare professional referrals of colorectal cancer patients with a high-likelihood risk of Lynch syndrome to appropriate genetic counselling services. CRC (and other cancer) patients identified as being at high risk of LS can be referred for genetic counselling to Family Cancer Clinics (FCCs) where a definitive genetic test can be undertaken with the patient’s consent. This enables carriers to engage in effective screening protocols, detect and treat cancer early, and educate relatives. LS has been detected in a relatively small proportion of CRC patients (5 %), tens of thousands are believed to carry a LS gene in Australia alone, making LS an extremely underdiagnosed condition [8]

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