Why this research matters? 

Polygenic risk scores (PRS) are an emerging genomic tool that estimate an individual’s genetic predisposition to various health conditions. PRS testing has broad clinical implications. Unlike traditional genomic testing, which typically applies to a small subset of the population, PRS can be generated for all individuals and for most complex health conditions. A PRS can be considered a patient’s intrinsic background genomic risk and can be used alongside other risk factors to inform personalised risk estimates. PRS can be used for risk-stratified population screening, refining risk for individuals undergoing genetic testing for monogenic conditions and guiding therapeutic interventions. Genetic healthcare providers (GHPs) acknowledge that PRS testing will become integrated into future practice and anticipate future roles in supporting non-genetics providers to utilise this test. However, GHPs report a lack of knowledge and confidence regarding PRS use in clinical practice. This initiative forms part of a wider PRS implementation study to accelerate incorporation of PRS into cancer care.

Study aims  

This study aims to empower genetic health professionals to use PRS in clinical practice by developing targeted resources. Clinicians want free, modular, accessible resources to support ordering of PRS tests, result interpretation and communication of test and results to patients.  This study aims to deliver a ‘just-in-time’ resource which will provide clinicians with the resources required to discuss and deliver PRS to patients at point of care.

What we have achieved so far 

• A focus group study has identified GHP learning needs and preferences. These have been mapped to the COM-B model of behaviour change to identify target areas for implementation.

• Received ethics approval from the University of Queensland HREC to conduct interviews with GHPs to refine website content and structure.

• Draft website content has been developed and an expert advisory group including clinicians, researchers and consumers established to ensure the website provides high-quality information.

• A website develop has been engaged to create the website prototype.

Current research updates 

• Recruitment is underway for GHP interviews

• A review paper on application of PRS-based risk assessments to current cancer management guidelines

What’s next? Future research areas  

• Once the website prototype has been developed and refined using end-user feedback, an evaluation study will be performed.

• Future iterations of the website will include information about use of PRS in other conditions such as glaucoma and cardiovascular disease.

Staying up to date  

If you’re interested in learning more about this research or getting involved, please contact us via email (preferred) or phone.  

📩 igmgenomics@uq.edu.au

Team members

• Jennifer Berkman

• Tatiane Yanes

Funding

• MRFF grant

• PhD research training stipend (Jenny Berkman)