Study with 100,000 babies to look at faster diagnosis of rare conditions and how genetic data might be used
Heel-prick tests are currently offered for newborn babies to screen their blood for nine serious conditions, but hundreds more could be diagnosed at birth through whole genome sequencing.Heel-prick tests are currently offered for newborn babies to screen their blood for nine serious conditions, but hundreds more could be diagnosed at birth through whole genome sequencing.
Although researchers will only search babies’ genomes for genetic conditions that surface during early childhood, and for which an effective treatment already exists, their sequences will be held on file. This could open the door to further tests that could identify untreatable adult onset conditions, or other genetically determined traits, in the future.
Ensuring the privacy of this data is therefore essential. “People must be able to trust that any data collected will only be used in the agreed way, and for the stated purpose,” Norcross said. Currently, such diseases are usually only diagnosed once a child develops symptoms, often after months or years of tests. One such condition is biotinidase deficiency, an inherited disorder in which the body is unable to recycle the vitamin biotin. Affected children may experience seizures and delays in reaching developmental milestones, and have problems with vision or hearing, but early diagnosis and treatment with biotin supplements can prevent this deterioration and keep them healthy.
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