Your Newborn’s Bloodspot Screening Test
Within a few days of being born, more than 300,000 Australian babies a year have a spot of their blood analysed to screen for a range of serious but treatable health conditions.
The Aim of Newborn Bloodspot Screening
The aim of this newborn bloodspot screening is to detect babies at risk of health conditions and to intervene early. These are conditions that could cause the baby serious harm if not treated in the first days or weeks of life.
Current Screening Program
About one in 1,000 babies (or about 300 a year) are found to have one of these conditions that would otherwise go undetected.
Australia’s screening program – which reaches about 99% of newborn babies – mainly uses tests that measure the levels of specific biochemicals in a baby’s blood. There is limited use of genetic testing (sequencing a small amount of DNA) as part of the program.
Genomics in Newborn Bloodspot Screening
But as genetic technologies improve, researchers are discussing options for updating the screening program. This might include sequencing the DNA of every baby born.
It’s early days and we don’t yet know what an updated screening program might look like. But in a few months, we’ll ask Australians for their say.
Why are we talking about this?
Advances in genomics (the methods we use to sequence some or all of our DNA) and reductions in the time and cost of sequencing mean it may now be possible to use genomics in newborn bloodspot screening.
We don’t know exactly how this might happen. But one approach is to use genomics as well as existing biochemical testing.
Balancing the Benefits and Risks
There are challenges ahead. We need to balance the potential benefits for the less than 1% of Australian babies who receive an early diagnosis from newborn screening, and their families, with potential risks for all screened newborns and their families.
Using genomics in newborns raises significant economic, ethical, legal and equity concerns.
Questions we need to answer
Genomics could change how newborn bloodspot screening works in Australia. But there are some big questions to answer first, including:
1. How much DNA should we sequence? All of the DNA (referred to as whole genome sequencing) or only part of the DNA (for example, specific genes)?
2. What results should we give parents? Should we report everything we find or only results that can help treat the baby?
3. Are the required health services available for all newborns? Conditions identified via newborn screening require specialised health care that may not be available everywhere. Some families may also have difficulty accessing care due to where they live, language barriers or socioeconomic factors.
4. What if there is no intervention for a specific health condition? Fewer than 10% of rare conditions currently have an effective treatment.
5. What data will be stored? How do we keep the genomic sequence data, or screening results, private and secure while allowing appropriate access to guide clinical care?
6. Will the information be used for other purposes? The information could be used for many other purposes, such as predicting the likelihood the child will develop specific health conditions as an adult, for medical research, or for legal investigations about blood relatives.
7. How should we engage with families to help them make the right decision for them? How should families be engaged about this screening? How can we balance the fact that newborn bloodspot screening is typically encouraged with the inherent uncertainty of many genomic results?
8. How much will it cost? Is the extra cost of using genomics in newborn bloodspot screening a good use of taxpayers’ money?
You could have your say
As part of an Australian research project this year we will be running a national Australian citizens’ jury on genomics in newborn bloodspot screening.
Some 6,000 households across Australia will be chosen at random from the Australia Post database. They will be invited by mail in late January to participate in the jury. You could be invited, so watch your letterbox.
Of those who respond, 30 people will be chosen to represent the diversity of Australians in terms of gender, age, ancestry, education, place of residence and parenting status. In March 2025, via online sessions and a face-to-face meeting in Canberra, they will learn about the issues we’ve described and develop recommendations about what we should do.
Conclusion
Using genomics in newborn screening is relevant to everyone. Even if you don’t plan to have children, the Australian health system will have to cover any future health care costs of the screening program, its implementation and its outcomes.
FAQs
Q: What is genomics? Genomics is the study of the structure, function, and evolution of genomes, which are the complete sets of genetic information contained within an organism.
Q: How does genomics work in newborn bloodspot screening? Genomics could be used to sequence the DNA of every baby born, which could potentially identify up to 1,000 more health conditions than the existing program.
Q: What are the benefits of using genomics in newborn bloodspot screening? The benefits include earlier diagnosis and treatment for more babies and their families, and the potential to detect conditions that may not be treatable with current biochemical testing.
Q: What are the risks of using genomics in newborn bloodspot screening? The risks include the potential for unnecessary testing, genetic counselling and treatment, as well as the need for significant additional health-care resources.
