Background: Comprehensive genomic profiling (CGP) of advanced cancer can incidentally reveal potential germline pathogenic variants in cancer predisposition genes. This information offers a valuable opportunity to guide personalised cancer risk management and prevention for families. Equitable access to Precision Oncology's benefits is essential to optimize outcomes. We report the germline validation experience of Precision Care Initiative’s centralised clinic established to improve national access.
Methods: Individuals were counselled by genetics clinicians via telehealth or face-face. Germline validation testing was offered for variants in high-to-moderate actionability genes identified through CGP.
Results: Between September 2023-May 2026, 103 individuals (60 male, 58%) with 117 variants across 27 genes were reviewed. Median age at tumour diagnosis was 59 years (range 16–88). Most patients were of European ancestry (87/103, 84%), had a family history of cancer (88/103, 85%), and 25 (24%) independently met clinical criteria for germline testing. Referrals came from NSW (48, 47%), QLD (17, 17%), VIC (15, 15%), TAS (14, 14%), SA (4, 4%), WA (3, 3%), NT (1, 1%), and ACT (1, 1%), with 56 (54%) from non-metropolitan areas. Of 85 tested patients (18 untested), 37 variants (43%) validated,11 in females (30%, all Breast/Ovarian CPGs, 3 with concordant family history) and 26 in males (70%; 22 in breast/ovarian CPGs , 3 mismatch repair CPGs,10 with concordant family history). Median referral-to-review time was 19 days, with 39% seen within 15 days. Cascade testing has occurred in at least 24 families (23%). Of the 103 tests offered, only 32 (31%) tests were Medicare-eligible (31%); 57 (55%) relied on Omico support.
Conclusion: This centralised model has achieved a strong national and non-metropolitan uptake with high validation rates. However, limited Medicare eligibility (31%) threatens the long-term sustainability and national accessibility of germline validation services.