Special Issue "Neonatal Screening in Australia: Current Status and Future Development"

Dear Colleagues,

This Special issue focuses on neonatal screening in Australia to explore its current status and determine future developments. 

More than 99 percent of newborns in Australia undergo newborn bloodspot screening. This means that over 300,000 infants are screened annually. Recently, the Australian Government committed AUD 39.0 million over four years to expand newborn bloodspot screening (NBS) to include more conditions and ensure consistency, initiating a consultation process to inform the expansion of NBS. Since the 1960s, newborn screening has been implemented in most developed nations, with more than 40 million babies receiving some form of newborn blood spot screening annually. However, only about 30 percent of newborns receive screening for readily treatable disorders. There is interest in expanding the benefits of appropriate neonatal screening if it can be conducted in an ethical, safe, and cost-effective manner in healthcare settings with limited resources and treatment access. New developments in screening technology, such as primary genomic testing, have a great deal of potential, but they must not undermine public confidence or current endeavors to develop acceptable and effective screening programmes. As we increasingly detect patients with greater phenotypic heterogeneity, the clarity of case definitions based on agreed-upon confirmatory testing becomes increasingly crucial.

Suggested themes include, but are not limited to, exploring the feasibility of an expert advisory group to provide informed and unbiased advice and support health policymakers at a national level; enablers for effective health policy development to inform political representatives, while recognizing and respecting national autonomy; a review of evidence to identify new conditions for assessment; opportunities for consumer input on expanding NBS screenings in Australia; and how we can ensure that the NBS screening is fit for purpose, timely, and robust.

In this Special Issue, original research articles and reviews are welcome.

I look forward to receiving your contributions.

Dr. Victoria Kain
Guest Editor

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• newborn screening
• NBS
• neonatal screening
• next-generation sequencing
• expanded NBS program
• DNA sequencing