Background
Identification and referral of patients with a relevant clinical or family history of cancer can save the lives of those affected by hereditary cancers [
1]. Lynch syndrome (LS), an inherited disorder involving many types of cancer, is found in 2–5 % of colorectal cancers (CRCs) [
2,
3]. Globally, there were an estimated 1.36 million new cases of CRC in 2012, with 134,349 in the United States and 40,775 in the United Kingdom [
4]. In Australia there were around 17,000 new CRC cases in 2014 and this figure is projected to rise to around 20,000 by 2020 [
5]. 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. Early diagnosis of LS is therefore critical since surveillance (e.g., colonoscopic) and/or risk reducing surgery for LS patients and at-risk relatives can prevent cancer, optimise medical management and reduce mortality [
6,
7]. Although 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].
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.
Implementation of clinical guidelines which aim to facilitate the translation of research evidence into practice require healthcare professionals to change their behaviour. Whilst behaviour change is complex, [
20] emphasised by a growing field of research dedicated to understanding and improving healthcare, [
21] it is entirely possible [
22]. The application of behaviour change methods to design interventions, such as identifying and addressing key barriers to change, [
23] can transform healthcare organisations and improve patient outcomes [
23,
24]. Whilst some evidence exists for the factors affecting clinical decisions and actions for patients who may benefit from screening to detect LS, [
10] the development and implementation of evidence-based interventions to address health care professionals’ barriers to referring patients with CRC with a high-likelihood of LS for genetic testing is lacking. Using approaches such as intervention co-design with key stakeholders can enhance intervention generalisability across different contexts, and the translation of effective approaches from research into practice [
25].
The validated, six-step Theoretical Domains Framework Implementation (TDFI) approach [
26] uses behaviour change theory and implementation science principles to identify and address key barriers to changing clinical practice. Barriers are represented by 11 domains of behaviour change, e.g., ‘knowledge’, ‘skills’, ‘social influences’, ‘emotion’, ‘environment’, ‘professional role and identity’, ‘memory, attention, decision processes’. These domains are based on theoretical constructs from multiple psychological and organisational behaviour change theories [
24]. Authenticating a bottom-up strategy with senior management support, the TDFI approach takes a team of front-line health care professionals supported by behavioural scientists through a collaborative implementation process. We have successfully used this approach to demonstrate clinical, statistical and cost-effective improvements in guideline implementation (e.g., for anaesthetics, enteral feeding) across UK hospitals [
20,
22,
26]. In this project we will use the validated TDFI approach in two large Australian hospitals to improve the timely identification of LS in patients with CRC. This represents an opportunity to address a known clinical problem and unmet need through the application of a behavioural change approach.
Discussion
This project is based on a refined, tested collaborative implementation strategy that will be applied to identify and overcome key healthcare professional barriers to appropriately referring patients with a high-likelihood risk of hereditary cancer genes for genetic testing. It will introduce regular monitoring of LS referral practices to participating organisations, thereby increasing awareness of LS and the potential for sustained, improved referral practice. By applying and refining the tested TDFI approach, for the first time within the Australian healthcare system and with healthcare professionals to improve cancer care, we expect to improve the current rates of referral for genetic testing in New South Wales (NSW) from 46 % [
19] to ensure those patients with CRC with a high likelihood of LS are rapidly identified and provided with the opportunity to have the definitive genetic test. This is expected to lead to better cancer prevention through the provision of opportunities for more frequent targeted screening, and access to surgical procedures to remove tissues and organs at higher risk of LS related cancers, [
6] resulting in improved patient outcomes, including gains in years of life [
32].
In addition to improved patient outcomes, by increasing the number of high-likelihood LS referrals for genetic testing, the TDFI approach may also save public money. For example, tumour testing for LS (on which referrals are based, alongside other factors such as family history) is cost effective in the UK, with all incremental cost-effectiveness ratios below the National Institute for Health and Care Excellence threshold of <£20 K(Aus$36 K) per quality adjusted life year (QALY) gained [
32]. Other potential outcomes might include: improved service coordination, more effective organisational functioning, improved inter-professional collaboration and communication between health care professionals, improved health care professional job satisfaction with improved patient outcomes, reductions in crisis work with late detection and removal of life threatening cancers. Overall the outcomes of each of these advances will serve to benefit patients through improved evidence-based surveillance and faster treatment.
To disseminate the findings of the project we will develop a strategy for effectively sharing lessons and resources within and between participating organisations, and with other healthcare organisations in Australia and internationally. This might involve, for example, liaising with key local, national, and international cancer networks (e.g., translational research networks, cancer agencies including the Cancer Institute New South Wales and consumer agencies such as Lynch Syndrome Australia) to devise ways for communicating the outcomes of this work into community based and academic settings. These activities will enable interventions developed and lessons learned through this work to be shared with healthcare organisations and the wider community both within and beyond the participating hospital networks to improve referral patterns of patients with CRC with high-likelihood risk of LS.
Ethics approval and consent to participate
Ethical approval and site specific governance has been granted for this study by the South Eastern Sydney Local Health District Human Research Ethics Committee (reference: 15/103). Informed written consent has been obtained from all study participants recruited to date, and informed verbal or written consent will be obtained from all future study participants.
Competing interests
The authors declare that they have no competing interests.
Authors’ contributions
NT conceived and developed the protocol and wrote the manuscript. MC, RW, SON and JB contributed to the development of the study proposal. DD, JL, ES and EE contributed to the selection of measurement indicators. All authors reviewed the paper. All authors read and approved the final manuscript.