- Courtney K. Wallingford, Chloe Mighton, Tamara Dawson, Anne Cust, H. Peter Soyer, Yvonne Bombard, Tatiane Yanes, Aideen McInerney-Leo
Correspondence: c.wallingford@uq.edu.au
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Abstract
Melanoma represents a significant burden on the Australian healthcare system and early detection is crucial to improve patient and health system outcomes. Experts suggest that targeted screening for high-risk individuals could lead to more efficient use of healthcare resources. Integrated risk scores combine polygenic risk scores (PRS) and non-genetic risk factors to offer the best performance for melanoma risk stratification. However, the feasibility of using integrated risk scores on a population basis to identify those at highest risk has yet to be evaluated. This narrative review aimed to identify evidence gaps and key issues to be addressed to support implementation of melanoma integrated risk scores on a population-based scale in Australia. Findings highlighted the following research and infrastructure needs: understand the progression rate of melanoma in situ to invasive disease; define who should be offered integrated risk scores; address performance issues across ancestries; develop clearly defined risk thresholds and corresponding clinical advice; and investigate clinical utility and impact of receiving integrated risk scores. Furthermore, screening programmes will require: equitable access to post-screening care; guidelines and quality standards for generating PRS and integrated risk scores; healthcare rebates for PRS testing; infrastructure for computational and data storage needs; workforce training and clinical decision support resources; clearer protections around PRS use in risk-rated insurances; and clear plans for programme quality and performance management. In conclusion, integrated risk scores have potential to facilitate targeted high-risk melanoma screening in Australia. However, there are significant evidence and infrastructure gaps that must be addressed before programme implementation.