Question 1

My patient has already had extensive testing. Why would genomic testing add anything new?

Accepted Answer

Standard diagnostic workups test for what you already suspect. Genomic testing does something fundamentally different — it sequences thousands of genes at once, without needing a hypothesis first. For patients who've exhausted the conventional pathway, it's not more of the same. It's a completely different lens. And with 80% of rare diseases having a genetic basis, the answer is often there, waiting to be found.

Question 2

Isn't genomic testing only relevant for rare disease specialists?

Accepted Answer

That's changing rapidly. As genomic testing becomes mainstream, GPs and general clinicians are increasingly the first — and sometimes only — point of contact for patients who need it. Recognising the patterns that suggest a patient may have an underlying genetic condition, and knowing when to refer or order, is now part of modern general practice. Your patients shouldn't have to find their way to a geneticist before someone considers this option.

Question 3

My patient has been undiagnosed for years. Is it too late to test?

Accepted Answer

It's never too late — and in fact, patients with a long diagnostic odyssey are exactly who genomic testing was built for. Years of inconclusive results, misdiagnoses, and symptom management don't disqualify someone from testing. If anything, they make the case stronger. A diagnosis — even a late one — can change treatment decisions, inform family planning, and give patients and families something they may have waited years for: an answer.

Question 4

What's the real clinical value of a genomic diagnosis if there's no cure?

Accepted Answer

More than you might expect. A confirmed genomic diagnosis can guide precision management, identify comorbidities before they emerge, unlock access to clinical trials or targeted therapies, and allow cascade testing of at-risk family members. It also ends the cycle of repeat investigations — which has its own clinical and financial cost. A diagnosis doesn't need to come with a cure to meaningfully change a patient's care.

Question 5

How do I know if a patient is a good candidate for genomic testing?

Accepted Answer

Consider it when a patient presents with symptoms that span multiple systems without a unifying explanation, when standard testing keeps coming back inconclusive, or when there's a strong suspicion of an inherited condition. Children with developmental delay, adults with complex multi-system presentations, and anyone with a family history that doesn't fit a clean pattern are all worth considering. If you're unsure, that uncertainty itself is often a signal.

Question 6

Is Medicare funding actually accessible, or is it too hard to navigate?

Accepted Answer

Medicare does fund genomic testing across several disease areas — and while the pathway involves some steps, it's more navigable than many clinicians realise. Knowing which MBS items apply, when a clinical geneticist approval is needed, and how to document eligibility criteria correctly makes the difference. That's exactly what this service helps with — so the clinical decision stays yours, and the administrative complexity doesn't become a barrier for your patient.

Genomic Testing Made Simple for Clinicians

Why Genomic Testing

Resources

How to Use the NSW Health Pathology Test Catalogue for Genomic Orders

Finding an Accredited Genomics Laboratory in Australia: A Guide to the NATA Directory

A Paediatrician's Guide to Ordering Whole Exome Sequencing (WES) Under Medicare