Newborn bloodspot screening is a crucial part of healthcare for Australian babies. Within a few days of being born, more than 300,000 babies in Australia undergo screening to detect serious but treatable health conditions. The aim of this screening is to identify babies at risk early on so that intervention can be provided promptly.
This screening program, which covers about 99% of newborn babies in Australia, mainly involves tests that measure specific biochemical levels in the baby’s blood. However, with advancements in genetic technologies, there is a discussion about potentially updating the screening program to include DNA sequencing for every newborn.
Genomics, which involves sequencing DNA, has the potential to identify a broader range of health conditions compared to traditional biochemical testing. This could lead to earlier diagnosis and treatment for more babies and their families. While genomics in newborn screening has not been implemented in any country yet, research projects in Australia and around the world are exploring this possibility.
However, using genomics in newborn screening poses challenges. It raises concerns related to economics, ethics, legal issues, and equity. Sequencing a baby’s DNA can reveal information about the newborn and their relatives that traditional screening methods cannot. It may uncover conditions for which there is no treatment, conditions that may develop later in life, or conditions that could be passed on to future generations.
There are important questions that need to be addressed before implementing genomics in newborn screening. These include determining how much DNA should be sequenced, what results should be reported to parents, ensuring access to specialized healthcare for all newborns, and safeguarding the privacy and security of genomic data.
To gather input from the public on the use of genomics in newborn screening, a national Australian citizens’ jury will be conducted as part of a research project. This jury will consist of diverse participants who will learn about the issues and develop recommendations on the use of genomics in newborn screening.
It is essential to involve the public in discussions about the potential use of genomics in newborn screening as it impacts everyone, regardless of their plans for having children. Understanding the views of the general public, along with those of scientists, healthcare professionals, and policymakers, is crucial in making informed decisions about the future of newborn screening in Australia.
