Aims: To identify and synthesise existing guideline recommendations for genetic testing of prostate cancer (PCa) to develop a comprehensive list of possible strategies (i.e., who should be tested and how) for consideration by a multidisciplinary Delphi panel. This is part of a larger program of work to determine the value of genetic testing for PCa in Australia.

Methods: Consistent with the PRISMA-ScR Statement, we conducted a scoping review of guidelines for genetic testing of PCa. A comprehensive search strategy was developed. We searched four electronic databases (PubMed, Embase, CINAHL, PsycInfo) and the grey literature, including websites of key organisations (e.g., NCCN, Philadelphia Consensus, EAU, AUA, ESMO, eviQ). Guidelines published in English over the past 15 years were included.

Results: The search generated 658 citations and after removal of duplicates and title and abstract screening, 24 guidelines remained. After full text review, 21 guidelines were synthesized for inclusion in the scoping review. These represented seven official clinical organisations, were based on a clearly defined process with research evidence to support recommendations and consensus from a panel of experts. Nine reviews of existing guidelines were also included, involving a rigorous methodology and consensus from a panel of experts, modified due to country-specific and/or implementation considerations.

Conclusion: This review of guidelines showed that genetic testing for PCa is generally supported and recommendations are similar across organisations. This is particularly true for men with early onset disease, family history of high-risk disease and metastatic disease. However, recommendations are often based on lower-level evidence or expert opinion and concerns were raised in the literature regarding implementation and a lack of available services, equity of access, psychosocial issues and the need for more research to strengthen the clinical and economic evidence base.