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Backers of the Genomic Sequencing and Newborn Screening Disorders research programme, unveiled today, say that it will test how useful and ethically sound it is for parents to know about their child’s comprehensive genetic makeup at birth and through childhood.
The programme will not replace the screening tests that most states require for newborns, which check for chemicals in the blood and defective proteins that signal the presence of nearly 60 genetic diseases. Instead, the grants will support research for studying whether sequencing a newborn’s DNA is better than conventional screening for detecting genetic disorders that affect drug metabolism, immune function and hearing, as well as some disorders that are included in conventional screening, such as metabolic disorders and cystic fibrosis.
“One can imagine a day when every newborn will have their genome sequenced at birth, and it would become a part of the electronic health record that could be used throughout the rest of the...