BioPharma, Diagnostics

How Genome Sequencing Can Broaden the Scope of Newborn Screening

Standard newborn screening can detect dozens of inherited diseases, but genomics technology enables testing for hundreds of them. A North Carolina program evaluating the feasibility of bringing genomics to newborn screening is expanding with an initial goal of testing 5,000 babies in the next year.

Soon after birth, a baby receives its first diagnostic test—a small heel prick yielding several blood drops analyzed for dozens of inherited conditions. Newborn screening is standard in all states. A North Carolina study has been evaluating how genome sequencing can supplement standard blood tests, and that program is now ramping up the number of diseases it screens.

Federal guidelines recommend screening for 35 core conditions and 26 secondary ones, though the specific number of diseases screened varies from state to state. In North Carolina, newborn screening currently covers 60 diseases. Early Check, a program offered by research institute RTI International and the University of North Carolina at Chapel Hill, is expanding the number of additional diseases screened to about 200, according to RTI spokesman Cobey Culton.

“Parents can choose which groups of conditions they want to screen their baby for,” Culton said in an email. “By sequencing newborns we’re able to detect potential health problems early on so babies can receive appropriate treatment resulting in improved health outcomes.”

In standard North Carolina newborn screening, blood samples blotted onto a card are sent to a Raleigh lab for testing. Early Check staff test the same blood samples for additional diseases in screening that is free to the study’s participants. Since the program’s 2018 start, more than 27,000 newborns in North Carolina received screening for three rare, inherited diseases: Fragile X syndrome, Duchenne muscular dystrophy, and spinal muscular atrophy (SMA). SMA has since been added to the list of diseases included in standard screening in North Carolina.

Starting Sept. 28, Early Check will use whole genome sequencing to expand the number of diseases in its screen menu. Genome sequencing enables the screening for hundreds of diseases with one test, Culton said. The screening and analysis will be handled by genetics testing company GeneDx using whole genome sequencing technology from Illumina.

With the expansion of Early Check, the goal is to sequence 5,000 newborns in the next year, and more in following years, Culton said. Any baby born in North Carolina is eligible to be enrolled by its parents. Culton said Early Check is the first statewide study offering genomic sequencing for single-gene conditions while also providing a genetic risk score to identify babies at higher risk to develop type 1 diabetes in their lifetime.

In addition to informing parents of potential diseases affecting their newborns, Early Check will also guide public health officials. Culton said the study will provide insight about the feasibility and acceptability of these genomic tests before public health officials consider adopting this technology.

The new phase of Early Check has been funded for three years. Funding amounts were not disclosed. RTI has also established a public-private partnership with the goal of sustaining the Early Check project longer term.

When Early Check began, its main funding was from the National Institutes of Health, the NIH’s National Center for Advancing Translational Sciences, the Eunice Kennedy Shriver National Institute of Child Health and Human Development, The John Merck Fund, CureSMA, and Asuragen. The expansion of Early Check is supported by funding from The Leona M. and Harry B. Helmsley Charitable Trust, JDRF, and Travere Therapeutics, with additional support from Orchard Therapeutics. Janssen Research & Development, LLC provider previous support in the planning of the expansion study.

Culton said there are currently no plans to expand Early Check to other states.

Photo: metinkiyak, Getty images