Hours after giving birth, Tammie Rees made a decision that saved her daughter’s life.
The mother of three decided to have daughter Ava checked for genetic conditions in a blood spot “heel prick test” and did not think much of it until it came back with a serious diagnosis.
Ava, now a happy and healthy seven-year-old, has a life-threatening condition – called maple syrup urine disease – that can cause brain damage if she eats too much protein.
“I quickly googled it and I thought she’d had brain damage – she didn’t,” Ms Rees told AAP.
“We were very lucky because of being told she had it through it being detected by this screening test.
“She could have been very, very unwell if we had found out by symptoms rather than being detected.”
Ava is one of an estimated one in 1000 infants with a rare and serious condition picked up through the test, a condition that might otherwise have not been known for years.
Presently the test checks for 32 conditions, with work under way to see whether it can be expanded to up to 1000 different diseases by examining a person’s entire DNA makeup, known as genomics.
But it has also thrown up dozens of unanswered legal, financial and privacy questions that researchers want the public’s help to work through.
A major question is how much DNA scientists should sequence, as the current program only looks at specific genes.
“Using genomics in the context of newborn screening raises a whole lot of ethical and equity questions and so we really wanted to ask the question of, should we do it?” researcher and health economist Sarah Norris said.
“There is potentially up to 1000 other conditions that we could be looking for … the only way to tell if the baby has one of these conditions is to look at their DNA.
“The trouble is that for a lot of those conditions, we don’t have treatments.
“We only have treatments for about 10 per cent of those conditions.”
The program has not yet been expanded on such a scale anywhere else in the world, with the UK only screening for seven conditions and some US states screening for up to 50.
Details are yet to be finalised with questions about how the data would be stored, who could access it, whether law enforcement could use it and whether it could impact a person’s health insurance.
Associate Professor Norris, a health technology assessment expert who chairs the Medical Services Advisory Committee’s evaluation subcommittee, says a major concern is uncovering information we don’t yet know how to interpret.
“We need to ask, what results should we give parents?” she said.
“Should we report everything that we find – even findings that we don’t know what they mean – or should we only report results that can actually help treat the baby?
“Another question is whether we have all the required health services available for the newborns.”
Some 6000 households will be approached in coming months and 30 individuals chosen to make recommendations in what the scientists describe as an “informed pub test”.
The Medical Research Future Fund has backed the research that will be used by federal, state and territory health ministers when they decide whether to expand the program in coming years.
Assoc Prof Norris doesn’t know how the panel of 30 Australians will lean, noting there is no consensus from experts on how to proceed.
Whatever the results, she said one thing in particular keeps experts up at night – will greater analysis of DNA create such uncertainty or anxiety for parents that they reject the existing screening program?
Pediatric neurologist and clinical researcher Didu ‘Sandi’ Kariyawasam agreed, voicing concerns some children with conditions that could be picked by by the current test, might be missed entirely.
“There’s high public trust in our newborn screening programs in Australia – it’s over 99 per cent – and you want to make sure that if you’re going to do a number of conditions in one go, you’re not going to erode that public acceptance,” she said.
But that does not necessarily mean we should follow the science just because it is there without safeguards or weighing up the risks and benefits, Dr Kariyawasam said.
“I am concerned if we go towards multiple condition screening or whole genomes, where you can look at most of the DNA, and we don’t have a holistic and equitable post-screening care pathway then we’re going to cause harm to our families,” she said.”It may leave them feeling unsupported and this will impact the wellbeing of the child and family for years to come.”
Ms Rees “absolutely” supported expanded screening and said even though her daughter’s condition did not have a cure, it was manageable.
“There’s ethical and financial issues that can be brought up, but I would still rather know that my child had something and I could find ways to deal with it, manage it,” she said.
“We have both passed this on to Ava. It’s genetic. We haven’t made her to be this way. It wasn’t our fault. I can certainly see how people can take that on and it’s very daunting.
“It’s very scary to think that your body could have created this disease but if you don’t know, there’s nothing you can do about it.”
