Genomic profiling looks at the biology of your condition, not just its type, to identify whether there are targeted treatments that might work. Not everyone is routinely offered this testing. You can ask for it, and this guide explains why that question is worth raising early.
What is genomic and molecular profiling?
Genomic and molecular profiling is testing that analyses the molecular and genetic characteristics of your illness. Your condition is defined not only by where it occurs in the body but by these characteristics. Profiling looks at the biology of the illness, the genetic changes that are driving it, and the markers that are present on or within the cells.
This testing is sometimes called molecular profiling, biomarker testing, genomic sequencing, or next-generation sequencing. Different names are used in different clinical settings, but they all refer to variations of the same concept: understanding the biological makeup of the illness in detail.
The results can identify whether the illness has specific characteristics that targeted therapies are designed to address. They can also determine eligibility for certain clinical trials, which often have specific biomarker requirements. And they can confirm when certain treatment options are unlikely to be effective, sparing a person the burden of a treatment that would not help.
How does genomic testing work?
Profiling usually requires a tissue sample taken from the illness itself, often from a biopsy that was already performed during diagnosis. In some cases, a liquid biopsy can be used, which analyses material shed by the illness into the bloodstream. This can be done with a blood test, making it less invasive than obtaining a tissue sample.
The sample is sent to a specialised laboratory where the analysis is performed. The process takes time. Results typically take two to four weeks, though the timeline varies by laboratory and the complexity of the analysis requested.
Results are usually reported back to your treating specialist, not directly to you. The report can be complex and is intended to be interpreted in the context of your full clinical picture. You are entitled to a copy of the report and to have it explained to you in plain language.
Should I be having genomic profiling?
Not everyone is routinely offered genomic profiling. Whether it is appropriate depends on the type of condition, the stage, what treatments have already been given, and what is available in your area. In major tertiary hospitals, profiling is increasingly part of standard practice for certain conditions. In smaller centres or for less common diagnoses, it may not be offered unless someone asks.
Asking whether genomic profiling has been done or whether it would be appropriate is a reasonable question to raise with your specialist. It is not an unusual question and most clinicians will have a clear answer. If profiling has already been done, ask what the results showed and whether they have any implications for your treatment plan.
In Australia, some genomic profiling is funded through the Medicare Benefits Schedule for certain conditions. For others, there may be out-of-pocket costs, or access may be through a clinical trial. Your specialist or a genetic counsellor can advise on what is available and funded in your situation.
What does a negative result mean?
A negative result, meaning no actionable mutation or targetable marker was found, is not a failure. It is useful information. It tells your medical team that certain targeted therapies are unlikely to help, which allows them to focus on other approaches.
Some people feel deflated by a negative profiling result, as if they missed out on something. The result itself has not closed any doors that were previously open. It has provided clarity about what doors exist. A condition without targetable markers may still respond well to other treatments, including immunotherapy approaches that do not depend on specific biomarkers.
Ask your specialist to explain what the result means in the context of your treatment options. A clear explanation of why certain options are or are not relevant is always reasonable to ask for.
What do I do after receiving my genomic results?
Results can take weeks to arrive and do not always come with proactive communication. In busy clinics, a result can arrive in a system without the patient being called. This is a known gap in the process, and being aware of it means you can follow up rather than wait indefinitely.
If you have been waiting more than four weeks for results, contact the clinic or your specialist's rooms and ask whether the results have been received. You are entitled to know the status of your own test results.
When results arrive, ask your specialist to explain them in plain language. Ask what the results mean for your treatment options and whether the findings should be shared with any other specialists involved in your care. Ask for a copy of the report to keep in your own records.
If a profiling result shows a potentially actionable finding, ask what the next step is and when it will happen. Do not assume your specialist has a plan unless you have heard what the plan is. Healthdirect (healthdirect.gov.au) has plain-language information on genetic testing and how to understand what results mean.
How does genomic profiling connect to clinical trials?
Many clinical trials specifically recruit participants based on biomarker results. If you have profiling results showing a particular finding, you may be eligible for trials that are specifically designed for people with that finding, even if the trial is not otherwise connected to your primary diagnosis.
This is one reason to have profiling done early, before treatment decisions narrow your eligibility for trials. If profiling shows an actionable marker, that finding can inform not just your treatment plan but also your trial options.
See the clinical trials guide for more on how to find and approach trials in Australia.
What questions should I raise with my specialist about genomic testing?
- Has genomic or molecular profiling been done on my condition? If not, would it be appropriate?
- Can this be done from the existing biopsy sample, or would a new sample be needed?
- Is liquid biopsy an option in my case?
- How long will results take, and how will I be notified?
- Can I have a copy of the results report?
- Are there any trial eligibility implications from these results I should know about?
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Pierre started 18December after his partner Mark was given a terminal diagnosis, when they mapped out everything that needed to happen at the kitchen table. He reviews the guides to keep them honest, plain, and genuinely useful. About 18December
Published 12 June 2026
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