Genetic testing in cancer including BRCA
Germline versus tumour testing, who qualifies under eviQ and the Medicare BRCA items, reading a result (pathogenic, VUS, uninformative), tumour-first pathways that reveal germline variants, ctDNA and clonal haematopoiesis traps, and when a result changes treatment.
Tier 1Medical sciences concept
Written with AI assistance and fact-checked against the sources below. For exam study, not clinical decisions. How notes are made
At a glance
- Two different tests answer two different questions. Germline testing (blood or saliva) asks whether the person inherited a cancer predisposition. Tumour (somatic) testing asks what is driving this cancer and which drug might work.
- About 5 to 10% of cancers arise from a high-penetrance germline variant. The rate is far higher in some groups: about 15% of high-grade serous ovarian cancer (plus 5 to 7% with a somatic BRCA variant), and about 10% of metastatic prostate and pancreatic cancer.
- In Australia, oncologists and surgeons now order mainstream germline testing for eligible patients, with counselling and familial cancer centre follow-up.
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Sources
- eviQ Cancer Genetics: genetic testing for heritable pathogenic variants and referral guidelinesAU/NZCancer Institute NSW, Current documents, checked November 2026
- MBS items 73295, 73296 and 73297 (germline BRCA and breast or ovarian cancer gene testing; cascade testing)AU/NZAustralian Government Department of Health, Disability and Ageing, MBS Online, 73296 and 73297 descriptors updated 1 March 2025; checked November 2026
- MBS items 73301, 73302 and 73304 (tumour BRCA testing in ovarian cancer, germline confirmation after tumour testing, germline BRCA in mCRPC)AU/NZAustralian Government Department of Health, Disability and Ageing, MBS Online, Checked November 2026
- Richards S et al. Standards and guidelines for the interpretation of sequence variants (ACMG/AMP). Genet Med 2015;17:405-24American College of Medical Genetics and Genomics, 2015
- Treasury Laws Amendment (Genetic Testing Protections in Life Insurance and Other Measures) Act 2026AU/NZAustralian Government, 2026 (in force 8 October 2026)
- Kuzbari Z et al. Germline-focused analysis of tumour-detected variants in 49,264 cancer patients: ESMO Precision Medicine Working Group recommendations. Ann Oncol 2023;34:215-27European Society for Medical Oncology, 2023
- NCCN Clinical Practice Guidelines in Oncology. Genetic/familial high-risk assessment (breast, ovarian, pancreatic and prostate; colorectal, endometrial and gastric)National Comprehensive Cancer Network, 2026
- Last updated
- 14 November 2026
What changed
- 14 November 2026 Turnstile bot check on sign-in and signed-out feedback