Question 1

What does a genomic diagnosis actually change?

Accepted Answer

A confirmed diagnosis can resolve diagnostic uncertainty, guide genotype-specific management, inform transplant planning — particularly where the donor is a blood relative — clarify risk for family members, and support family planning. Those are the indications these pathways are built around, and most of them apply whether or not a treatment exists.

Question 2

My patient has had years of investigations. Why add this?

Accepted Answer

Genomic testing has a high diagnostic yield, particularly for children with intellectual disability or complex syndromes, and it reduces time to diagnosis compared with traditional investigation pathways. A molecular explanation also reduces the need for further procedures — and for families on a long diagnostic journey, an answer has value of its own.

Question 3

Is it worth testing when there is no cure?

Accepted Answer

Often, yes. In cystic kidney disease a molecular diagnosis can inform prognosis, surveillance and emerging targeted therapies. In haematuria and suspected Alport syndrome it has direct implications for management and for cascade testing in relatives. A diagnosis does not have to change the treatment to change the care around it.

Question 4

Why does one patient's result matter to their family?

Accepted Answer

A pathogenic variant found in your patient is actionable information for their relatives. It enables cascade testing and clarifies risk for family members, and targeted testing of first-degree relatives is funded under MBS item 73404. Where reproductive plans are in question, it also supports informed family planning.

Question 5

Why order it myself rather than refer to genetics?

Accepted Answer

For some presentations you do not need to refer. Cystic kidney disease, haematuria or Alport syndrome, and tubulopathy have well-established pathways appropriate for nephrologists to initiate directly, given the competency to manage results — the Melbourne Genomics traffic-light tool identifies which patients those are. In paediatrics, items 73358 and 73359 are ordered by a paediatrician or clinical geneticist, with patient-specific geneticist approval.

Question 6

When is genomic testing not the right call?

Accepted Answer

Worth weighing openly. A diagnosis can be difficult for some families to receive, a very rare result may come with limited natural history to guide prognosis, and variants of uncertain significance can raise more questions than answers. Incidental findings are uncommon — in the order of 1–3% — but need a plan before you order.

Genomic Testing Made Simple for Clinicians

Why Genomic Testing