Lynch syndrome and hereditary cancers

Lynch syndrome is a gene mutation that greatly increases a person’s risk of cancer, particularly colorectal (bowel) cancer and endometrial cancer. This hereditary syndrome is underdiagnosed in Australia and in many cases, a cancer diagnosis is the first sign that a person has Lynch syndrome. The Pathways Lynch group is focused on improving Lynch syndrome detection with a number of current research projects:

Establishing the cost-effectiveness of systematic testing for Lynch syndrome in colorectal cancer patients

Over the past five years, the team has developed a microsimulation model of testing and surveillance of Lynch syndrome called Policy1–Lynch. Policy1–Lynch is a comprehensive health economic model platform to simulate pathways for testing, diagnosis, surveillance and prophylaxis for Lynch syndrome. Using Policy1-Lynch, we have evaluated the cost-effectiveness of systematic testing for Lynch syndrome in incident colorectal cancer cases in the Australian setting. As Australia’s largest nongovernment, not-for-profit cancer research centre, Cancer Council NSW is able to independently study and advocate for this type of reform, using strong economic analysis to help drive change. Working through a series of translational biomedical, health system, economic, policy and patient level phases, the team aims to refine and further improve Policy1-Lynch and use the model to inform health policy decisions, health services planning and clinical management for individuals with Lynch syndrome.

Reducing barriers and improving referrals for Lynch syndrome diagnosis

The group is leading a cluster randomised controlled trial, called the Hide and Seek Project, at eight hospitals across Australia that looks at identifying and overcoming barriers to Lynch syndrome referral. The project aims to result in better screening of at-risk patients, early diagnosis, and will inform policy makers on the best value approaches for implementing clinical guidelines for genetic testing.

Investigating factors affecting the impact of implementation approaches

To complement the Hide and Seek Project, the team is conducting a study in parallel to investigate how changes in the health system occur (or do not occur), why, in what contexts, and at what costs. By conducting an in-depth, mixed methods process evaluation to, the aim of this study is to gain an understanding of the factors influencing the effectiveness of the implementation approaches being tested in the trial.

Assessing the cost-effectiveness of implementation approaches

The team is using Policy1-Lynch to test the cost-effectiveness of implementation packages for enhancing Lynch syndrome testing and referral practices nationally to inform the best approaches for implementing genetic and genomic evidence into the health system in the future.

Understanding the factors affecting decisions behind genetic testing uptake for detecting Lynch syndrome

The cost-effectiveness of systematic Lynch syndrome testing programs is sensitive to uptake rates of genetic testing and surveillance for both carriers and relatives, for that reason, the team is undertaking a semi-structured telephone interview study to explore the factors affecting patient decisions to undergo a genetic test and share the test results with at risk relatives. This interview study involves hypothetical scenarios regarding tumour testing, genetic counselling, sharing test results with at-risk relatives and genetic testing. Findings from this study will refine Policy1-Lynch to improve its cost-effectiveness estimates.