A study of 1,000 newborns found that genomic testing could identify hundreds of additional childhood conditions using the same blood sample from a heel-prick test.
Adding genomic sequencing to standard newborn blood screening could detect hundreds of additional treatable childhood conditions and provide much earlier diagnosis and treatment, according to a new study from Murdoch Children’s Research Institute (MCRI) and Victorian Clinical Genetics Services (VCGS).
The BabyScreen+ study, published in Nature Medicine, found that genomic testing could be included as part of the newborn heel-prick test and deliver results for hundreds of treatable conditions within 14 days. The heel-prick test currently offered to all Australian babies covers 32 conditions.
Researchers screened 1,000 newborns in Victoria for changes in 605 genes associated with early-onset, severe, treatable conditions using genome sequencing. The study found 16 babies had an increased likelihood of a genetic condition, with only one detected by standard newborn screening.
One baby was diagnosed with a rare and severe immunodeficiency disorder, with the early diagnosis enabling rapid treatment including a successful bone marrow transplant.
“Newborn screening for rare conditions is one of the most effective public health interventions,” says Zornitza Stark, VCGS clinical geneticist and MCRI professor, in a release. “But the increased capacity of genomic medicine to diagnose and treat rare diseases has challenged the ability of newborn screening programs to keep pace.”
Expanded Detection Capabilities
The study found that incorporating genomic sequencing provides the opportunity to substantially expand the range of conditions screened for, including those that predispose people to childhood cancers, as well as cardiac and neurological disorders not detectable with current standard technologies.
Parents showed strong acceptance of the testing, with 99.5% believing the testing should be available to all babies and 93% willing to recommend it to family and friends.
“Genomic sequencing at birth would enable many newborns to be diagnosed and treated earlier, improving patient and family health outcomes,” says Sebastian Lunke, PhD, VCGS associate professor and MCRI associate professor, in a release. “It could also potentially be vital to lifelong health, with the data stored and available to screen at any time.”
Implementation Challenges Remain
Despite the promising results, researchers noted practical and ethical concerns with newborn genomic sequencing. Issues including cost, equity, data storage, access and maintaining ongoing consent as a child becomes an adult would need to be addressed.
“Generating genomic data introduces complexities spanning privacy, data usage and, potentially, insurance implications,” says Lunke in a release. “We need to carefully think about how and when this information is best presented to parents to enable considered and informed choices.”
The study highlighted a case where genomic screening detected hemophagocytic lymphohistiocytosis (HLH), a life-threatening immunodeficiency condition, in a 7-week-old baby, Giselle. The condition had not been picked up via genetic carrier screening, and prompt diagnosis enabled successful treatment through bone marrow transplant.
“Despite a really challenging and at times heart-breaking process, we were so relieved to have a prompt diagnosis and clear treatment plan,” says Justin, the baby’s father, in a release. “BabyScreen+ has been a huge benefit to Giselle’s health, allowing her to avoid many long-term complications.”
Researchers emphasized the need to progress this research to ensure healthcare systems make decisions on robust evidence and build capacity to harness this technology responsibly on a mass scale.
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