GENETIC TESTING FOR BREAST CANCER
Around 5-10% of breast cancers are caused by an inherited genetic change (mutation). The most well-known genes are BRCA1 and BRCA2, but other genes such as PALB2, CHEK2 and ATM can also increase risk.
Genetic testing analyses your DNA to look for these inherited changes. It helps determine whether your breast cancer has a hereditary cause and can provide information to guide treatment, plan future screening and inform care for your family.
Dr Ling offers mainstream genetic testing, meaning eligibile patients can have testing arranged directly rather than waiting for a separate familial cancer care clinic appointment.
When is genetic testing recommended?
Genetic testing may be recommended if:
- You were diagnosed with breast cancer under the age of 40
- You have triple negative breast cancer diagnosed under age 60
- You are male with breast cancer
- You have several close relatives with breast, ovarian, pancreatic or prostate cancer
- A known genetic mutation exists in your family
Your personal and family history will be reviewed to determine whether testing is appropriate.
Why is genetic testing important?
Genetic information can:
- Guide surgical decisions (e.g. whether to consider bilateral mastectomy)
- Identify eligibility for targeted treatment (e.g. PARP inhibitors)
- Inform screening & prevention strategies for cancers (e.g. ovarian cancer)
- Provide valuable information for family members who may also be at risk
What does the test involve?
Testing is usually performed on a blood sample, with results typically available within 4 to 6 weeks.
What do the results mean?
There are 3 possible outcomes:
- Pathogenic variant found: a change known to increase cancer risk
- No variant found: no inherited cause is identified, though family history may still be relevant
- Variant of uncertain significance (VUS): a gene change is detected, but its impact is not yet clear
What is the cost of genetic testing?
The cost of testing is covered by Medicare if you meet eligibility criteria. If you do not meet the criteria, testing can be self-funded for approximately $450.
What is mainstream genetic testing?
Mainstreaming allows genetic testing to be offered and co-ordinated directly by your breast cancer specialist as part of your standard care.
Dr Ling is trained in this approach and can arrange testing for eligible patients. This ensures results are available promptly - often in time to guide surgical or treatment planning.
Why has this changed?
- Genetic results can now influence immediate treatment decisions.
- Mainstreaming improves access and reduces waiting times.
- Care remains co-ordinated through your existing medical team.
If a genetic change is identified, Dr Ling will work closely with a familial cancer centre to ensure you and your family receive comprehensive follow-up care and counselling.
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