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Updated: Sep 25, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
Genomic newborn screening, a healthcare system transformation
Lilian Downie1, Zornitza Stark1
1Victorian Clinical Genetics Service, Murdoch Children's Research Institute, Flemington Rd, Parkville, Victoria 3052, Australia; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.
Abstract:
Genomics has revolutionised the diagnosis of rare diseases and is now set to transform prevention through integration with newborn screening programmes. This will identify a broader range of severe, treatable diseases while creating the potential for data reuse across the lifetime. However, for effective population-wide implementation, a shift in the healthcare system to support preventive rather than reactive healthcare will need to occur. In addition, potential harms need to be identified and minimised. This review covers key components of this system shift including parental consent and choice, data workflows and reporting, education, and health-economic impact. Utilising digital technology and global collaboration will be integral to successful evidence generation at scale and to the integration of genomics into public health.
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