# Delphi panel consensus on genetic testing for prostate cancer in Australia: Whom to test and how?

**Authors:** Kim Edmunds, Shiksha Arora, Sri Teppala, Paul Scuffham, David Fairbairn, Matthew J. Roberts, Lisa Horvath, David P. Smith, Haitham Tuffaha

PMC · DOI: 10.1007/s10689-025-00528-x · Familial Cancer · 2026-01-24

## TL;DR

This study gathered expert and patient consensus on genetic testing for prostate cancer in Australia, highlighting who should be tested and identifying knowledge and resource gaps.

## Contribution

The first Australian consensus study on genetic testing for prostate cancer, identifying key testing groups and implementation challenges.

## Key findings

- Consensus was reached on testing men with a family history of high-risk hereditary genes or specific syndromes.
- BRCA2, BRCA1, and DNA MMR genes were prioritized for testing in men with metastatic prostate cancer.
- Thematic analysis revealed gaps in knowledge, information, and capacity for genetic testing and counseling.

## Abstract

The purpose of this study was to estimate the consensus of Australian Health Professionals and/or Researchers (HP/Rs) and Consumers (patients/family/carers) (Cs) on international genetic testing recommendations. Modified Delphi Panel study with seven domains of interest. Fifty-five statements were devised for an online survey administered in REDCap. HP/Rs and Cs were recruited from professional networks and associations for participation in the study. Statements were rated using a Likert scale and analysed using descriptive statistics. Free text comments were allowed within each domain and analysed using thematic analysis. Thirty-six HP/Rs and 27 Cs participated. There was consensus on testing men with a family history of a high-risk hereditary gene; men with PCa and a family history of Hereditary Breast and Ovarian Cancer (HBOC) syndrome or Lynch syndrome; and men with metastatic PCa. There was consensus on testing BRCA2, BRCA1 and DNA MMR genes for men with metastatic PCa. Thematic analysis of HP/R comments revealed three main topics: the lack of information to make a decision, insufficient knowledge of genetic testing, and capacity to provide genetic testing and counselling. This is the first Australian study on genetic testing recommendations in PCa to inform who should be tested and how. Our study showed apparent deficits in knowledge and implementation, exacerbated by workforce issues around the provision of genetic counselling and testing. Future work should focus on evaluating these recommendations for implementation in Australian practice.

The online version contains supplementary material available at 10.1007/s10689-025-00528-x.

## Linked entities

- **Genes:** BRCA2 (BRCA2 DNA repair associated) [NCBI Gene 675], BRCA1 (BRCA1 DNA repair associated) [NCBI Gene 672]
- **Diseases:** prostate cancer (MONDO:0005159), Hereditary Breast and Ovarian Cancer (MONDO:0003582), Lynch syndrome (MONDO:0005835)

## Full-text entities

- **Genes:** PMS2 (PMS1 homolog 2, mismatch repair system component) [NCBI Gene 5395] {aka HNPCC4, LYNCH4, MLH4, MMRCS4, PMS-2, PMSL2}, CHEK2 (checkpoint kinase 2) [NCBI Gene 11200] {aka CDS1, CHK2, HuCds1, LFS2, PP1425, RAD53}, MLH1 (mutL homolog 1) [NCBI Gene 4292] {aka COCA2, FCC2, HNPCC, HNPCC2, LYNCH2, MLH-1}, PARP1 (poly(ADP-ribose) polymerase 1) [NCBI Gene 142] {aka ADPRT, ADPRT 1, ADPRT1, ARTD1, PARP, PARP-1}, KLK3 (kallikrein related peptidase 3) [NCBI Gene 354] {aka APS, KLK2A1, PSA, hK3}, BRCA2 (BRCA2 DNA repair associated) [NCBI Gene 675] {aka BRCC2, BROVCA2, FACD, FAD, FAD1, FANCD}, EPCAM (epithelial cell adhesion molecule) [NCBI Gene 4072] {aka Ber-Ep4, BerEp4, DIAR5, EGP-2, EGP314, EGP40}, BRCA1 (BRCA1 DNA repair associated) [NCBI Gene 672] {aka BRCAI, BRCC1, BROVCA1, FANCS, IRIS, PNCA4}, MSH2 (mutS homolog 2) [NCBI Gene 4436] {aka COCA1, FCC1, HNPCC, HNPCC1, LCFS2, LYNCH1}, MSH6 (mutS homolog 6) [NCBI Gene 2956] {aka GTBP, GTMBP, HNPCC5, HSAP, LYNCH5, MMRCS3}, ATM (ATM serine/threonine kinase) [NCBI Gene 472] {aka AT1, ATA, ATC, ATD, ATDC, ATE}
- **Diseases:** Cancer (MESH:D009369), Lynch syndrome (MESH:D003123), HBOC (MESH:D061325), metastatic disease (MESH:D000092182), castration (MESH:D064129), PCa (MESH:D011471)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12831670/full.md

## References

2 references — full list in the complete paper: https://tomesphere.com/paper/PMC12831670/full.md

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Source: https://tomesphere.com/paper/PMC12831670