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In Australia, more than 300,000 babies are born each year, and nearly all undergo newborn bloodspot screening within days of birth. This life-saving test screens for serious but treatable health conditions, enabling early intervention and preventing harm. While only about 1 in 1,000 babies (around 300 annually) are diagnosed with a condition through this screening, the program has been successful in saving lives and improving outcomes.
Currently, the screening program relies on biochemical tests, which measure certain biochemicals in the blood. However, as advancements in genomics progress, the idea of using DNA sequencing as part of newborn screening is being discussed. This new approach could potentially screen for up to 1,000 additional conditions, which could lead to earlier diagnoses and treatments. But how feasible is this? And should we be sequencing the DNA of every baby born?
The Promise of Genomics in Newborn Screening
Genomics—the study of genomes and DNA sequencing—has seen rapid advances in technology, making it increasingly possible to use genetic testing in newborn screening. Researchers suggest that incorporating genomics could detect far more conditions than the current biochemical tests, some of which might not be identified until much later in life. Early identification could provide parents and doctors with the ability to intervene sooner, potentially saving lives and preventing long-term complications.
However, while the possibilities are promising, there are significant challenges to consider. The sequencing of DNA provides a wealth of information—some of which might not be helpful in treating a baby. For example, genetic testing might uncover conditions that are untreatable, or that might not manifest until adulthood. It might also reveal conditions that may never develop but could still be passed on to future generations.
Balancing Benefits and Risks
Genomic testing in newborns presents both tremendous potential and significant risks. Ethical concerns include what to do with genetic data that may not be relevant to a baby’s immediate health, or even the health of their relatives. For instance, should genetic results that indicate a risk of adult-onset diseases or conditions without clear treatments be shared with parents?
There’s also the potential for overdiagnosis, leading to unnecessary treatments and interventions. Furthermore, the costs of implementing genomic sequencing on every newborn could be substantial, and the additional healthcare resources required might stretch the existing system.
Moreover, the widespread use of genomics would necessitate careful management of genetic data. How would this information be stored securely, and who would have access to it? Could it be used for purposes beyond healthcare, such as legal matters or research? These are questions that need to be answered before genomic testing could be integrated into newborn screening programs.
National Consultation: Have Your Say
In the coming months, Australians will have the opportunity to have their voices heard on this issue. A national citizens’ jury will be convened to gather diverse opinions on the use of genomics in newborn screening. In late January 2025, 6,000 households will be randomly selected to participate in the jury. From those who respond, 30 people will be chosen to represent the demographic diversity of Australia, and will meet in March to discuss the implications of genomic screening. The jury will then provide recommendations on whether and how genomic testing should be integrated into the current newborn screening program.
The decision on whether to introduce genomic sequencing into Australia’s newborn screening program has far-reaching implications, not just for parents and children but for the healthcare system as a whole. Even if you don’t have children, the potential cost to the health system is something every Australian should consider.
This process will provide valuable insights from the public, alongside input from scientists, healthcare professionals, and policymakers, to help shape the future of newborn health in Australia.
Stay tuned for more information about how you can have your say in this important decision.
