Your DNA, explained.

Whole genome sequencing (WGS) reads almost all of your DNA. It is the most comprehensive option and is best suited to searching for an unknown cause, rare conditions, or a lifelong genetic baseline.

Targeted clinical panels read only the genes relevant to a defined clinical question, such as pharmacogenomics, hereditary cancer surveillance, cardiovascular risk, or carrier screening. Panels are typically faster, more focused, and aligned to a specific clinical pathway.

Your GP, specialist or genetic counsellor will help you choose the right option for your goals.

Genetic testing is considered when there is a clinical question to answer: a personal or family history of cancer, cardiovascular disease or an inherited condition, couples planning a family, people whose medicines are not working as expected, or patients with a cancer diagnosis where tumour profiling could guide treatment.

The right starting point is usually a conversation with your GP, who can refer you to a genetics service or genetic counsellor. Testing without a clinical question can create more confusion than clarity.

Hereditary (germline) changes are present from birth in every cell, inherited from a parent, and can run in families. They are relevant to relatives and to family planning.

Somatic (acquired) changes happen during life in a single cell or tissue and are not passed to children. Most cancers are driven by somatic changes, and tumour profiling studies these to guide treatment.

Good services deliver results through three lenses. You receive a plain-language summary you can read at home. Your pharmacist receives a scope-aligned view that supports safer dispensing. Your GP, specialist or genetic counsellor receives the full clinical-grade interpretation with variant references and evidence levels.

Only the people you consent to share your results with can see them. In Australia, genetic data must not be disclosed to insurers in the way other health information sometimes is, and reputable services never sell it.

In Australia, life insurers cannot use the results of predictive genetic tests against applicants for cover up to $500,000 (death cover), $500,000 (total permanent disability), and $200,000 (trauma cover), under the Financial Services Council moratorium. You are not required to disclose results to your insurer below those thresholds.

Your results stay private to you and the clinicians you choose to share them with.

A variant of uncertain significance (VUS) is a gene change that science cannot yet classify as harmful or harmless. It is common, it is usually not a cause for alarm, and it should not drive medical decisions on its own.

As laboratories share more data, many VUS are reclassified over time, sometimes years later. Good services re-review results as knowledge grows and contact you if the classification changes.

Turnaround depends on the test. Targeted panels typically return within 3 to 4 weeks of sample collection. Whole genome sequencing typically takes 6 to 8 weeks or longer. Oncology tumour profiling runs on a faster schedule appropriate to clinical urgency.

Your treating team will confirm timing when the test is ordered.

Some tests are covered by Medicare for qualified patients under specific clinical indications, for example certain hereditary cancer panels for patients meeting eligibility criteria, and several oncology profiling tests when ordered by a treating specialist.

Other tests sit outside the Medicare schedule and incur out-of-pocket costs that vary by laboratory, panel scope and clinical context. Pharmacogenomics, broader screening panels and whole genome sequencing typically fall into this category.

Ask your GP, specialist or genetic counsellor what applies to your situation before you commit to anything.

Most genetic testing uses a simple cheek (buccal) swab or a small blood draw, arranged through your clinic or pathology provider. Oncology tumour profiling may additionally require a tissue or liquid biopsy, coordinated through your treating oncologist.

No sample is taken without your informed consent.