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Genomic screening

Genomic screening: once, for life

Inherited cancer risk, expanded carrier screening and how your genes handle medicines. Tests you do once, read by a doctor and a genetic counsellor, with the result kept in your account for the decisions that follow.

About this stage

Your genome does not change, so these are tests you take once and refer back to for years. They answer a different kind of question from a hormone panel: not how you are today, but what you were born with. Whether you carry a change in BRCA1 or BRCA2 that raises your lifetime risk of breast and ovarian cancer. Whether you and a partner could both pass on the same serious recessive condition. Which antidepressants or hormonal medicines your body clears quickly or slowly.

Two things make genomic screening different from the rest of what KnowLuna offers, and we say them plainly. First, a result can affect relatives as well as you, which is why every positive result is explained by a genetic counsellor before anything else happens, and why we help with cascade testing for family members, which is usually Medicare-rebated. Second, the laboratory is a specialist genomics laboratory rather than a routine pathology laboratory. We name it, its accreditation and where it is on each test page before ordering opens, and you consent to that before you order. It receives your sample and a KnowLuna sample number, never your name, and destroys the sample and the raw sequencing data after reporting.

Where a Medicare-rebated pathway exists for you, we tell you before you pay. Hereditary cancer testing through a familial cancer clinic is rebated when you meet the family history criteria; the three-gene carrier screen is rebated once in a lifetime through a GP request; the DPYD pharmacogenomic test is rebated before certain chemotherapy. Our questionnaire checks these first. Self-pay is for when you do not meet the criteria, do not want to wait, or want the broader panel.

The limits matter here too. Most people tested do not carry a change, and a normal result does not remove the risk from other causes: most breast cancer is not inherited. A panel can return a variant of uncertain significance, which is not a positive result and is usually reclassified as harmless in time. Australian life insurers observe a moratorium on genetic test results below certain cover limits, and the government has committed to legislating a ban; health insurance is not affected. We explain the current position before you order.

Related tests
How ordering works
1

Answer the questionnaire

Family history, ancestry and what you want to know. It checks whether a Medicare-rebated pathway applies to you before anything is ordered.

2

A doctor requests it

A KnowLuna women's health doctor confirms the right test and requests it, or your own specialist's request is used. Pre-test information and consent are part of the order.

3

Saliva kit, then counselling

Most genomic tests start from a saliva kit posted to you. Results are explained by a doctor and, for any positive or uncertain result, by a genetic counsellor, with referral to a familial cancer service where that is the next step.

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Common questions

Should I have hereditary cancer testing?

Testing is most useful where there is breast, ovarian, prostate or pancreatic cancer in close relatives, cancers diagnosed young, several cancers in one person, an Ashkenazi Jewish background, or a known gene change in the family. If you meet the family history criteria, a familial cancer clinic can test you with a Medicare rebate and we tell you so. If you do not meet them but want to know, self-pay testing with counselling is a reasonable choice.

What happens to my DNA and my data?

The laboratory receives your sample and a KnowLuna sample number only. It uses the sample to perform the test you ordered, reports the result to your KnowLuna doctor, and destroys the sample and raw sequencing data after reporting. It never uses either for research or shares them. Your report is held on Australian systems in your KnowLuna account.

Will a result affect my insurance?

Health insurance in Australia cannot use genetic results. Life insurers observe a moratorium on genetic test results below certain cover limits and the government has committed to legislating a ban. We set out the current position on the test page before you order.

Can my relatives be tested if I carry a change?

Yes. Once a specific gene change is known in a family, testing relatives for that change is straightforward and is usually Medicare-rebated through a familial cancer clinic. A genetic counsellor helps you decide who to tell and how.

Sources and further reading

General information only, not medical advice. A genetic test is one input to a doctor's assessment, not a diagnosis on its own. Read our medical disclaimer.

Tested once.
Explained properly.
A doctor and a genetic counsellor, every time it matters.
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