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Published in 2021 at "Journal of Paediatrics and Child Health"
DOI: 10.1111/jpc.15382
Abstract: Genomic testing for a genetic diagnosis is becoming standard of care for many children, especially those with a syndromal intellectual disability. While previously this type of specialised testing was performed mainly by clinical genetics teams,…
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Keywords:
genetics;
paediatric genomic;
navigating medicare;
genomic testing ... See more keywords
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Published in 2023 at "Journal of medical ethics"
DOI: 10.1136/jme-2022-108471
Abstract: Genomic sequencing (GS) is increasingly used in paediatric medicine to aid in screening, research and treatment. Some health systems are trialling GS as a first-line test in newborn screening programmes. Questions about what to do…
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Keywords:
sequential interrogation;
paediatric genomic;
storing paediatric;
data sequential ... See more keywords