Antonietta D’Angelo

One newborn in a Victorian study appeared healthy and passed all current screening tests. Their parents had no idea anything was wrong. They would have gone home and carried on with the sleepless nights and first smiles, not knowing their child's immune system was silently preparing to turn on itself.

Instead, that baby received early treatment and a bone marrow transplant at four months old. Today, they're alive because of a study that happened to offer something the standard heel-prick test couldn't.

If you're pregnant or planning to be, this is worth knowing. The current screening every Australian newborn receives catches only a fraction of the genetic conditions that could be treated if caught early. New research from Melbourne suggests a different approach could change that.

What the study did

The BabyScreen+ study, led by the Murdoch Children's Research Institute, offered Victorian families a choice: alongside the standard heel-prick test, would they like their baby's DNA analysed for 605 genes linked to serious but treatable childhood conditions?

One thousand families said yes. Sixteen of their babies turned out to carry genetic variants that put them at risk. Standard screening would have caught just one of them. Fifteen families would have gone home not knowing.

Real-world impact

Not every diagnosis meant an immediate crisis. For nine babies, the findings were about prevention—their families now know to avoid specific anaesthetics or antibiotics that could trigger dangerous reactions. For five, it meant starting regular monitoring: heart scans, hearing tests, MRIs to catch problems before they become emergencies.

Two babies needed treatment straight away. One was about to have heart surgery for an unrelated condition when the genomic test revealed a hidden metabolic disorder. Without that knowledge, routine surgical fasting could have caused dangerously low blood sugar. The medical team adjusted their approach.

The other was the baby with the immune disorder. Clinically well at the time of diagnosis, but already showing early signs of trouble in blood tests. Early therapy, then a transplant at four months. A different outcome than if the family had found out during a medical emergency months or years later.

The ripple effects extended beyond the babies themselves. Twenty family members—twelve parents and eight siblings—were subsequently diagnosed with conditions no one had suspected. Some, looking back, realised they'd had symptoms all along.

What parents think

You might assume this kind of testing would be anxiety-inducing. The opposite was true.

Parents in the study reported no increased anxiety and minimal regret about their decision. Most described choosing the test as easy. The main reason they gave? They wanted to know what to expect for their baby's future.

Those who received high-chance results said access to prompt genetic counselling and clear information helped them adapt. Nearly every parent in the study believed genomic screening should be available to all families, and almost all supported public funding for it.

Results came back in about two weeks on average—not months of waiting.

The equity challenge

This is where it gets complicated. The families who participated weren't a perfect cross-section of Australia. Parents under 30 were underrepresented. So were those from regional areas, those with two or more children already, and those who don't speak English at home. University-educated parents were overrepresented.

If this kind of screening becomes routine, it needs to reach everyone—not just families who look like the study participants. That means translation services, outreach beyond major cities, and ensuring that once results come back, every family has equal access to treatment, genetic counselling, and specialist care. The researchers were clear: without targeted effort, the families who might benefit most could be the ones left out.

The road ahead

This test isn't available to you yet. Standard newborn screening remains the norm across Australia.

But the research is building. Similar studies in the US and Belgium are showing comparable results. The questions now are practical: how much would it cost to screen 300,000 Australian newborns a year? How do you train enough people to return over 4,500 high-chance results sensitively, in different communities, in different languages? How do you make sure the system doesn't produce too many false alarms or miss conditions it should catch?

These are solvable problems. They're also the reason this won't happen overnight.

What this means for you

For now, if you're having a baby, you'll be offered the heel-prick test, and that's it. But research like BabyScreen+ is shaping what might come next—and what questions you might one day be asked during your third trimester.

Somewhere in Victoria, there's a child whose parents thought they were bringing home a perfectly healthy baby. They were wrong, but they found out in time. That's what this research is trying to make possible for everyone.

The study was published in Nature Medicine and funded by the Australian Government's Medical Research Future Fund, as part of the Genomics Health Futures Mission. https://doi.org/10.1038/s41591-025-03986-z

One test found what standard newborn screening missed—15 times over

Antonietta D’Angelo

One newborn in a Victorian study appeared healthy and passed all current screening tests. Their parents had no idea anything was wrong. They would have gone home and carried on with the sleepless nights and first smiles, not knowing their child's immune system was silently preparing to turn on itself.

Instead, that baby received early treatment and a bone marrow transplant at four months old. Today, they're alive because of a study that happened to offer something the standard heel-prick test couldn't.

If you're pregnant or planning to be, this is worth knowing. The current screening every Australian newborn receives catches only a fraction of the genetic conditions that could be treated if caught early. New research from Melbourne suggests a different approach could change that.

What the study did

The BabyScreen+ study, led by the Murdoch Children's Research Institute, offered Victorian families a choice: alongside the standard heel-prick test, would they like their baby's DNA analysed for 605 genes linked to serious but treatable childhood conditions?

One thousand families said yes. Sixteen of their babies turned out to carry genetic variants that put them at risk. Standard screening would have caught just one of them. Fifteen families would have gone home not knowing.

Real-world impact

Not every diagnosis meant an immediate crisis. For nine babies, the findings were about prevention—their families now know to avoid specific anaesthetics or antibiotics that could trigger dangerous reactions. For five, it meant starting regular monitoring: heart scans, hearing tests, MRIs to catch problems before they become emergencies.

Two babies needed treatment straight away. One was about to have heart surgery for an unrelated condition when the genomic test revealed a hidden metabolic disorder. Without that knowledge, routine surgical fasting could have caused dangerously low blood sugar. The medical team adjusted their approach.

The other was the baby with the immune disorder. Clinically well at the time of diagnosis, but already showing early signs of trouble in blood tests. Early therapy, then a transplant at four months. A different outcome than if the family had found out during a medical emergency months or years later.

The ripple effects extended beyond the babies themselves. Twenty family members—twelve parents and eight siblings—were subsequently diagnosed with conditions no one had suspected. Some, looking back, realised they'd had symptoms all along.

What parents think

You might assume this kind of testing would be anxiety-inducing. The opposite was true.

Parents in the study reported no increased anxiety and minimal regret about their decision. Most described choosing the test as easy. The main reason they gave? They wanted to know what to expect for their baby's future.

Those who received high-chance results said access to prompt genetic counselling and clear information helped them adapt. Nearly every parent in the study believed genomic screening should be available to all families, and almost all supported public funding for it.

Results came back in about two weeks on average—not months of waiting.

The equity challenge

This is where it gets complicated. The families who participated weren't a perfect cross-section of Australia. Parents under 30 were underrepresented. So were those from regional areas, those with two or more children already, and those who don't speak English at home. University-educated parents were overrepresented.

If this kind of screening becomes routine, it needs to reach everyone—not just families who look like the study participants. That means translation services, outreach beyond major cities, and ensuring that once results come back, every family has equal access to treatment, genetic counselling, and specialist care. The researchers were clear: without targeted effort, the families who might benefit most could be the ones left out.

The road ahead

This test isn't available to you yet. Standard newborn screening remains the norm across Australia.

But the research is building. Similar studies in the US and Belgium are showing comparable results. The questions now are practical: how much would it cost to screen 300,000 Australian newborns a year? How do you train enough people to return over 4,500 high-chance results sensitively, in different communities, in different languages? How do you make sure the system doesn't produce too many false alarms or miss conditions it should catch?

These are solvable problems. They're also the reason this won't happen overnight.

What this means for you

For now, if you're having a baby, you'll be offered the heel-prick test, and that's it. But research like BabyScreen+ is shaping what might come next—and what questions you might one day be asked during your third trimester.

Somewhere in Victoria, there's a child whose parents thought they were bringing home a perfectly healthy baby. They were wrong, but they found out in time. That's what this research is trying to make possible for everyone.

The study was published in Nature Medicine and funded by the Australian Government's Medical Research Future Fund, as part of the Genomics Health Futures Mission. https://doi.org/10.1038/s41591-025-03986-z