Should newborn babies have their genomes sequenced at birth to screen for health problems? The US National Institutes of Health (NIH) intends to spend $25 million over the next five years to consider the pros and cons.
Newborns in the US, and in many countries worldwide, already have a pinprick of blood taken at birth to test for conditions including phenylketonuria (PKU) and cystic fibrosis.
In some cases, these diseases can be treated. The intellectual disability caused by PKU, for instance, can be avoided by giving children a special diet that prevents the amino acid phenylalanine building up in their blood.
Sequencing newborns' entire genomes – or just their protein-coding exomes &ndash could return much more information on inherited diseases (see our Special Report: Your genomic future: Personalised medicine is here).
False positives
Sequencing costs have dropped to the point at which it might be a viable option: it currently costs about $1000 to sequence an exome, and $5000 to sequence an entire genome – compared with around $100 for the current, limited battery of newborn screening tests.
Four new projects, announced by the NIH on 4 September, will study the practicality of bringing genome or exome sequencing to neonatal medicine. The projects will assess whether genomic data can be used to improve the clinical care of severely ill infants in neonatal intensive care, and what information should be returned to the families involved.
One key question is whether current genome sequencing technologies are accurate enough to be deployed in newborn screening. "They're not quite at clinical grade," says Eric Green, director of the National Human Genome Research Institute in Bethesda, Maryland.
Another concern is that screening will report disorders that aren't there. But current newborn screening methods have high false positive rates, says Stephen Kingsmore of the Children's Mercy Hospital in Kansas City, Missouri, who is leading one of the new projects. He is confident that genome sequencing will actually deliver fewer false positives.
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