Achieving behaviour change for detection of Lynch syndrome (Australia)

open access

Study protocol 

Achieving behaviour change for detection of Lynch syndrome using the Theoretical Domains Framework Implementation (TDFI) approach: a study protocol

 Whilst clinicians cannot be expected to have detailed knowledge about causative LS genes, current guidelines from Australia, the United States and Europe emphasise their responsibility for recognising the clinical phenotype and family history characteristics of LS, and referring patients to clinical genetics or family cancer clinics if deemed necessary [9–14]. Referral is required as currently in public health, the definitive diagnostic test must be ordered by a specialised FCC and requires formal patient consent after genetic counselling. However, 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, 15–18]. In particular, recent Australian evidence indicates that over half (54 %) of patients with CRC with a high likelihood of LS were not referred for genetic testing, despite indicators recommending referral [19]. Unidentified carriers remain unaware of their greater cancer risk or the need for ongoing screening. Relatives may also miss the opportunity to discover if they have LS. These delays in detecting and managing cancer may lead to significant morbidity and loss of life.....

Background

Lynch 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.....