Early detection is the key to a better life for rare disease patients
Genomic sequencing in newborns – yes or no?
It’s technically possible to produce high-quality genomic sequencing data from blood spot cards used in newborn screening. However, there are cost considerations, ethical issues as well as limitations in infrastructure and human resources to delivering genomic sequencing at scale. What additional value would genomic sequencing bring to newborn screening? For fresh insights, see the presentation by Professor John Christodoulou of the University of Melbourne Department of Paediatrics.
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