Guidelines for genetic testing in prostate cancer: a scoping review

Haitham Tuffaha; Kim Edmunds; David Fairbairn; Matthew J Roberts; Suzanne Chambers; David P Smith; Lisa Horvath; Shiksha Arora; Paul Scuffham

doi:10.1038/s41391-023-00676-0

Guidelines for genetic testing in prostate cancer: a scoping review

Prostate Cancer Prostatic Dis. 2023 May 18. doi: 10.1038/s41391-023-00676-0. Online ahead of print.

Authors

Haitham Tuffaha¹, Kim Edmunds², David Fairbairn³, Matthew J Roberts^{4

5}, Suzanne Chambers⁶, David P Smith⁷, Lisa Horvath^{8

9

10}, Shiksha Arora², Paul Scuffham¹¹

Affiliations

¹ Centre for the Business and Economics of Health, University of Queensland, Brisbane, QLD, Australia. h.tuffaha@uq.edu.au.
² Centre for the Business and Economics of Health, University of Queensland, Brisbane, QLD, Australia.
³ Pathology Queensland, The Royal Brisbane Women's Hospital, Brisbane, QLD, Australia.
⁴ UQ Centre for Clinical Research, University of Queensland, Brisbane, QLD, Australia.
⁵ Department of Urology, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia.
⁶ The Faculty of Health Sciences, Australian Catholic University, Brisbane, NSW, Australia.
⁷ The Daffodil Centre, The University of Sydney, A Joint Venture with Cancer Council NSW, Sydney, NSW, Australia.
⁸ Medical Oncology, Chris O'Brien Lifehouse, Camperdown, NSW, Australia.
⁹ Clinical Prostate Cancer Group, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.
¹⁰ Faculty of Medicine and Health, University of Sydney, Camperdown, NSW, Australia.
¹¹ Menzies Health Institute Queensland, Griffith University, Gold Coast, QLD, Australia.

PMID: 37202470
DOI: 10.1038/s41391-023-00676-0

Abstract

Background: Genetic testing, to identify pathogenic or likely pathogenic variants in prostate cancer, is valuable in guiding treatment decisions for men with prostate cancer and to inform cancer prevention and early detection options for their immediate blood relatives. There are various guidelines and consensus statements for genetic testing in prostate cancer. Our aim is to review genetic testing recommendations across current guidelines and consensus statements and the level of evidence supporting those recommendations.

Methods: A scoping review was conducted following the Preferred Reporting Items for Systematic Reviews and Meta-analyses extension for scoping review (PRISMA-ScR) guidelines. Electronic database searches and manual searches of grey literature, including websites of key organisations were conducted. Using the Population, Concept, Context (PCC) framework, this scoping review included: men with prostate cancer or men at high risk of prostate cancer and their biological families; existing guidelines and consensus statements with supporting evidence for genetic testing of men with prostate cancer from any geographical location worldwide.

Results: Of the 660 citations identified, 23 guidelines and consensus statements met the inclusion criteria for the scoping review. Based on different levels of evidence about who should be tested and how, a diverse range of recommendations were identified. There was general consensus among the guidelines and consensus statements that men with metastatic disease be offered genetic testing; however, there was less consensus in relation to genetic testing in localised prostate cancer. While there was some consensus in relation to which genes to test, recommendations varied regarding who to test, testing methods and implementation.

Conclusion: While genetic testing in prostate cancer is routinely recommended and numerous guidelines exist, there is still considerable lack of consensus regarding who should be tested and how they should be tested. Further evidence is needed to inform value-based genetic testing strategies for implementation in practice.

Publication types

Review

Grants and funding

PIRA FLECR-3421/Prostate Cancer Foundation of Australia (PCFA)