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Updated: Sep 16, 2025
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Genomic Screening Consortium for Australian Newborns (GenSCAN)
Natalie Taylor1, Michelle Pirreca2,3, Bruce Bennetts2,4
1School of Population Health, Faculty of Medicine and Health, UNSW, Sydney, New South Wales, Australia.
Background:
Using genomic sequencing technology at population scale as a screening test holds the promise of improving outcomes for individuals with rare diseases through early detection and timely access to precision medicine. However, the incorporation of genomics into established newborn screening programmes raises many challenges, ranging from technical feasibility and scalability through to ethical concerns regarding consent and data management. Empirical evidence and implementation experience from large-scale studies are required to guide future policy.
Methods:
We provide a narrative summary of genomic newborn screening studies currently underway in Australia.
Findings:
We summarise six research studies currently underway in Australia, which explore the application of genomic technologies in the newborn screening context. These studies have taken varying approaches to generating evidence about the implementation of genomic newborn screening and have formed a national consortium, the Genomic Screening Consortium for Australian Newborns (GenSCAN), with the aim of sharing experiences and enabling collective learning.
Conclusions:
Over the next decade, we can expect substantial evidence to be generated nationally and internationally to inform future policy decisions on whether to incorporate genomic sequencing into newborn screening programmes.
