Guidelines for genetic testing in prostate cancer: a scoping review.
Journal
Prostate cancer and prostatic diseases
ISSN: 1476-5608
Titre abrégé: Prostate Cancer Prostatic Dis
Pays: England
ID NLM: 9815755
Informations de publication
Date de publication:
18 May 2023
18 May 2023
Historique:
received:
20
01
2023
accepted:
27
04
2023
revised:
11
04
2023
medline:
19
5
2023
pubmed:
19
5
2023
entrez:
18
5
2023
Statut:
aheadofprint
Résumé
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. 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. 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. 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.
Sections du résumé
BACKGROUND
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
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
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
CONCLUSIONS
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.
Identifiants
pubmed: 37202470
doi: 10.1038/s41391-023-00676-0
pii: 10.1038/s41391-023-00676-0
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Prostate Cancer Foundation of Australia (PCFA)
ID : PIRA FLECR-3421
Informations de copyright
© 2023. The Author(s).
Références
Sung HFJ, Siegel RL, Laversanne M, Soerjomatara I, Jemal A, Bray F. Global Cancer Statistics 2020: GLOBOCAN Estimates of Incidence and Mortality Worldwide for 36 Cancers in 185 Countries. CA Cancer J Clinicians. 2021;71:209–49.
doi: 10.3322/caac.21660
Roehrborn C, Black L. The economic burden of prostate cancer. BJUI Int. 2011;108:806–13.
doi: 10.1111/j.1464-410X.2011.10365.x
Kucera R, Pecen L, Topolcan O, Dahal A, Costigliola V, Girodano F, et al. Prostate cancer management: long-term beliefs, epidemic developments in the early twenty-first century and 3PM dimensional solutions. EPMA J. 2020;11:399–418.
pubmed: 32843909
pmcid: 7429585
doi: 10.1007/s13167-020-00214-1
Australian Institute of Health and Welfare. Cancer data in Australia. Canberra: AIHW; 2022.
Australian Institute of Health and Welfare. Health system expenditure on cancer and other neoplasms in Australia, 2015–16. Canberra: AIHW; 2021.
Gordon LG, Tuffaha HW, James R, Keller AT, Lowe A, Scuffham PA, et al. Estimating the healthcare costs of treating prostate cancer in Australia: A Markov modelling analysis. Urol Oncol 2018;36:91.e7–.e15.
pubmed: 29169847
doi: 10.1016/j.urolonc.2017.10.024
Ellison J, Alajati A, Kubatka P, Giordano F, Ritter M, Costigliola V, et al. Prostate cancer trteatment costs increase more rapidly than for any other cancer - how to reverse the trend? EPMA J. 2022;13:1–7.
doi: 10.1007/s13167-022-00276-3
Crumbaker M, Wong J, Joshua AM, Spigelman AD. Outcomes of universal germline testing for men with prostate cancer in an Australian tertiary center. Asia Pac J Clin Oncol. 2019;15:257–61.
pubmed: 31012270
Marino F, Totaro A, Gandi C, Bientinesi R, Moretto S, Gavi F, et al. Germline mutations in prostate cancer: a systematic review of the evidence for personalised medicine. Prostate Cancer Prostatic Dis. 2022 https://doi.org/10.1038/s41391-022-00609-3 .
Nicolosi P, Ledet E, Yang S, Michalski S, Freschi B, O’Leary E, et al. Prevalence of germline variants in prostate cancer and implications for current genetic testing guidelines. JAMA Oncol. 2019;5:523–8.
pubmed: 30730552
pmcid: 6459112
doi: 10.1001/jamaoncol.2018.6760
Pritchard C, Mateo J, Walsh M, De Sarkar N, Abida W, Beltran H, et al. Inherited DNA-repair gene mutations in men with metastatic prostate cancer. N. Engl J Med. 2016;375:443–53.
pubmed: 27433846
pmcid: 4986616
doi: 10.1056/NEJMoa1603144
Finch A, Clark R, Vesprini D, Lorentz J, Kim R, Thain E, et al. An appraisal of genetic testing for prostate cancer susceptibility. NPJ Precision Oncol. 2022;6:43.
doi: 10.1038/s41698-022-00282-8
Vietri MT, D’elia G, Caliendo G, Resse M, Casamassimi A, Passariello L, et al. Hereditary prostate cancer: Genes related, target therapy and prevention. Int J Mol Sci. 2021;22:3753.
pubmed: 33916521
pmcid: 8038462
doi: 10.3390/ijms22073753
Castro E, Lang SH, Swift SL, Leadley RM, Chalker A, Noake C, et al. Comparing the characteristics of advanced Prostate Cancer (PC) patients with and without DNA Damage Repair mutations (DDRm): A systematic review. European Urology Open. Science 2020;21:S154.
doi: 10.1016/S2666-1683(20)36211-X
Cheng H, Powers J, Schaffer K, Sartor O. Practical Methods for Integrating Genetic Testing Into Clinical Practice for Advanced Prostate Cancer. Am Soc Clin Oncol Educ Book. 2018;38:372–81.
pubmed: 30231311
doi: 10.1200/EDBK_205441
Giri VN, Knudsen KE, Kelly WK, Abida W, Andriole GL, Bangma CH, et al. Role of Genetic Testing for Inherited Prostate Cancer Risk: Philadelphia Prostate Cancer Consensus Conference 2017. J Clin Oncol. 2018;36:414–24.
pubmed: 29236593
doi: 10.1200/JCO.2017.74.1173
de Bono J, Mateo J, Fizazi K, Saad F, Shore N, Sandhu S, et al. Olaparib for Metastatic Castration-Resistant Prostate Cancer. N. Engl J Med. 2020;382:2091–102.
pubmed: 32343890
doi: 10.1056/NEJMoa1911440
Abida W, Patnaik A, Campbell D, Shapiro J, Bryce A, McDermott R, et al. Rucaparib in men with metastatic castration-resistant prostate cancer harboring a BRCA1 or BRCA2 gene alteration. J Clin Oncol. 2020;38:3763–72.
pubmed: 32795228
pmcid: 7655021
doi: 10.1200/JCO.20.01035
Page E, Bancroft E, Brook M, Assel M, Hassan Al Battat M, Thomas S, et al. Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers. Eur Urol. 2019;76:831–42.
pubmed: 31537406
pmcid: 6880781
doi: 10.1016/j.eururo.2019.08.019
Le DT, Uram JN, Wang H, Bartlett BR, Kemberling H, Eyring AD, et al. PD-1 blockade in tumors with mismatch-repair deficiency. N. Engl J Med. 2015;372:2509–020.
pubmed: 26028255
pmcid: 4481136
doi: 10.1056/NEJMoa1500596
National Comprehensive Cancer Network. Prostate Cancer (Version 4.2022). 2022. https://www.nccn.org/guidelines/guidelines-detail?category=1&id=1459 . Accessed November 10, 2022.
Mottet N, van den Bergh RCN, Briers E, Van den Broeck T, Cumberbatch MG, De Santis M, et al. EAU-EANM-ESTRO-ESUR-SIOG Guidelines on Prostate Cancer-2020 Update. Part 1: Screening, Diagnosis, and Local Treatment with Curative Intent. Eur Urol. 2021;79:243–62.
pubmed: 33172724
doi: 10.1016/j.eururo.2020.09.042
Parker C, Castro E, Fizazi K, Heidenreich A, Ost P, Procopio G, et al. Prostate cancer: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2020;31:1119–34.
pubmed: 32593798
doi: 10.1016/j.annonc.2020.06.011
Arksey H, O’Malley L. Scoping Studies: Towards a Methodological Framework. Int J Soc Res Methodol. 2005;8:19–32.
doi: 10.1080/1364557032000119616
Peters M, Marnie C, Tricco A, Pollock D, Munn Z, Alexander L, et al. Updated methodological guidance for the conduct of scoping reviews. JBI Evid Synth. 2020;18:2119–26.
pubmed: 33038124
doi: 10.11124/JBIES-20-00167
Tricco A, Lillie E, Zarin W, O’Brien K, Colquhoun H, Levac D, et al. PRISMA Extension for Scoping Reviews (PRISMA-ScR): Checklist and Explanation. Ann Intern Med. 2018;169:467–73.
pubmed: 30178033
doi: 10.7326/M18-0850
Hsu C-C, Sandford B. The Delphi Technique: Making sense of consensus. Pract Assess Res Eval. 2007;12:1–8.
Agency for Healthcare Research and Quality. National Guideline Clearinghouse Inclusion Criteria Rockville, Maryland. US Department of Health and Human Services; 2018. https://www.ahrq.gov/gam/summaries/inclusion-criteria/index.html#ref1
National Health and Medical Research Council. NHMRC levels of evidence and grades for recommendations for developers of guidelines. https://www.nhmrc.gov.au/sites/default/files/images/NHMRC%20Levels%20and%20Grades%20(2009).pdf . Acessed November 11, 2022.
National Comprehensive Cancer Network (NCCN). NCCN Clinical Practice Guidelines in Oncology. Colon Cancer, Version 1.2022. 2022.
National Comprehensive Cancer Network. Genetic/familial high-risk assessment: breast, ovarian, and pancreatic (Version 2.2022). 2022. https://www.nccn.org/guidelines/guidelines-detail?category=2&id=1503 . Accessed November 10, 2022.
Lowrance W, Breau R, Chou R, Chapin B, Crispino T, Dreicer R, et al. Advanced prostate cancer: AUA/ASTRO/SUO Guideline PART I. J Urol. 2021;205:14–21.
pubmed: 32960679
doi: 10.1097/JU.0000000000001375
Lowrance WT, Breau RH, Chou R, Chapin BF, Crispino T, Dreicer R, et al. Advanced Prostate Cancer: AUA/ASTRO/SUO Guideline PART II. J Urol. 2021;205:22–9.
pubmed: 32960678
doi: 10.1097/JU.0000000000001376
Eastham J, Auffenberg G, Barocas D, Chou R, Crispino T, Davis J, et al. Clinically Localized Prostate Cancer: AUA/ASTRO Guideline, Part I: Introduction, Risk Assessment, Staging, and Risk-Based Management. J Urol. 2022;208:10–8.
pubmed: 35536144
doi: 10.1097/JU.0000000000002757
Giri VN, Knudsen KE, Kelly WK, Cheng HH, Cooney KA, Cookson MS, et al. Implementation of Germline Testing for Prostate Cancer: Philadelphia Prostate Cancer Consensus Conference 2019. J Clin Oncol. 2020;38:2798–811.
pubmed: 32516092
pmcid: 7430215
doi: 10.1200/JCO.20.00046
Gillessen S, Attard G, Beer TM, Beltran H, Bjartell A, Bossi A, et al. Management of Patients with Advanced Prostate Cancer: Report of the Advanced Prostate Cancer Consensus Conference 2019. Eur Urol. 2020;77:508–47.
pubmed: 32001144
doi: 10.1016/j.eururo.2020.01.012
Gillessen S, Attard G, Beer TM, Beltran H, Bossi A, Bristow R, et al. Management of Patients with Advanced Prostate Cancer: The Report of the Advanced Prostate Cancer Consensus Conference APCCC 2017. Eur Urol. 2018;73:178–211.
pubmed: 28655541
doi: 10.1016/j.eururo.2017.06.002
Cancer Institute NSW. Prostate Cancer—Panel testing 3648 v.3 2020. https://www.eviq.org.au/cancer-genetics/adult/risk-management/656-brca1-or-brca2-risk-management-male .
Russo A, Incorvaia L, Capoluongo E, Tagliaferri P, Gori S, Cortesi L, et al. Implementation of preventive and predictive BRCA testing in patients with breast, ovarian, pancreatic, and prostate cancer: a position paper of Italian Scientific Societies. ESMO Open. 2022;7:100459.
pubmed: 35597177
pmcid: 9126927
doi: 10.1016/j.esmoop.2022.100459
Rozet F, Mongiat-Artus P, Hennequin C, Beauval JB, Beuzeboc P, Cormier L, et al. [French ccAFU guidelines - update 2020-2022: prostate cancer]. Prog Urol. 2020;30:S136–s251.
pubmed: 33349424
doi: 10.1016/S1166-7087(20)30752-1
González del Alba A, Méndez-Vidal MJ, Vazquez S, Castro E, Climent MA, Gallardo E, et al. SEOM clinical guidelines for the treatment of advanced prostate cancer (2020). Clin Transl Oncol. 2021;23:969–79.
pubmed: 33625671
pmcid: 8057980
doi: 10.1007/s12094-021-02561-5
Saad F, Canil C, Finelli A, Hotte SJ, Malone S, Shayegan B, et al. Controversial issues in the management of patients with advanced prostate cancer: Results from a Canadian consensus forum. Can Urol Assoc J 2020;14:E137–e49.
pubmed: 31702544
Selvarajah S, Schrader K, Kolinsky M, Rendon R, Hallani S, Fleshner N, et al. Recommendations for the implementation of genetic testing for metastatic prostate cancer patients in Canada. Can Urol Assoc J. 2022;16:321–32.
pubmed: 36240332
pmcid: 9565071
doi: 10.5489/cuaj.7954
Stoll S, Unger S, Azzarello-Burri S, Chappuis P, Graffeo R, Pichert G, et al. Update Swiss guideline for counselling and testing for predisposition to breast, ovarian, pancreatic and prostate cancer. Swiss Med Wkly. 2021;151:w30038.
pubmed: 34519462
doi: 10.4414/SMW.2021.w30038
Shore ND, Drake CG, Lin DW, Ryan CJ, Stratton KL, Dunshee C, et al. Optimizing the management of castration-resistant prostate cancer patients: A practical guide for clinicians. Prostate 2020;80:1159–76.
pubmed: 32779781
doi: 10.1002/pros.24053
Bratt O, Carlsson S, Fransson P, Thellenberg Karlsson C, Stranne J, Kindblom J. The Swedish national guidelines on prostate cancer, part 1: early detection, diagnostics, staging, patient support and primary management of non-metastatic disease. Scand J Urol. 2022:56:265–73.
pubmed: 35811480
doi: 10.1080/21681805.2022.2094462
Bratt O, Carlsson S, Fransson P, Thellenberg Karlsson C, Stranne J, Kindblom J. The Swedish national guidelines on prostate cancer, part 2: recurrent, metastatic and castrate resistant disease. Scand J Urol. 2022;56:278–84.
pubmed: 35798533
doi: 10.1080/21681805.2022.2093396
Chiu PKF, Lee EKC, Chan MTY, Chan WHC, Cheung MH, Lam MHC, et al. Genetic Testing and Its Clinical Application in Prostate Cancer Management: Consensus Statements from the Hong Kong Urological Association and Hong Kong Society of Uro-Oncology. Front Oncol. 2022;12:962958.
pubmed: 35924163
pmcid: 9339641
doi: 10.3389/fonc.2022.962958
Saad F, Dorff T, Attard G, Agawarl N. Incorporating PARP inhibitors into prostate cancer clinical practice: COR2ED. https://cor2ed.com/gu-connect/programmes/expert-knowledge-share-incorporating-parp-inhibitors-into-prostate-cancer-clinical-practice/ . Accessed November 10, 2022.
Szymaniak BM, Facchini LA, Giri VN, Antonarakis ES, Beer TM, Carlo MI, et al. Practical considerations and challenges for germline genetic testing in patients with prostate cancer: Recommendations from the germline genetics working group of the PCCTC. JCO Oncol Pract. 2020;16:811–9.
pubmed: 32986533
pmcid: 7735040
doi: 10.1200/OP.20.00431
Scheinberg T, Goodwin A, Ip E, Linton A, Mak B, Smith D, et al. Evaluation of a Mainstream Model of Genetic Testing for Men with Prostate Cancer. J Clin Oncol. 2020;17:e204–16.
Dunn J, Green A, Ralph N, Newton R, Kneebone A, Frydenberg M, et al. Prostate cancer survivorship essentials framework: guidelines for practitioners. BJUI Int. 2020;128:18–29.
doi: 10.1111/bju.15159
Scott RJ, Mehta A, Macedo GS, Borisov PS, Kanesvaran R, El, et al. Genetic testing for homologous recombination repair (HRR) in metastatic castration-resistant prostate cancer (mCRPC): challenges and solutions. Oncotarget 2021;12:1600–14.
pubmed: 34381565
pmcid: 8351605
doi: 10.18632/oncotarget.28015
Meshkani Z, Aboutorabi A, Moradi N, Langarizadeh M, Ghanbari Motlagh A. Population or family history based BRCA gene tests of breast cancer? A systematic review of economic evaluations. Hered Cancer Clin Pract. 2021;19:35.
pubmed: 34454549
pmcid: 8399845
doi: 10.1186/s13053-021-00191-0
Teppala S, Brent Hodgkinson B, Hayes S, Scuffham P, Tuffaha H. A review of the cost-effectiveness of genetic testing for germline variants in familial cancer. Journal of Medical Economics. 2022 https://doi.org/10.1080/13696998.2022.2152233 .