Early Check gene testing helps North Carolina newborns determine risk of Type 1 diabetes

More newborns in North Carolina will soon have access to testing that can identify their risk for Type 1 diabetes and hundreds of other childhood-onset genetic diseases.

Early Check, led by nonprofit RTI International and the University of North Carolina Chapel Hill (UNC), is the first US research study to provide, on a statewide basis, free, extensive genomic sequencing that can determine a baby’s likelihood of developing Type 1 diabetes. Newborns up to four weeks old in North Carolina can be enrolled in the study starting Sept. 28, UNC announced.

“There are many rare but treatable genetic disorders that can cause serious problems in infants and children for which we have previously had no method to screen,” Cynthia Powell, Early Check lead investigator and pediatrics and genetics professor at the UNC School of Medicine, said in a statement. “With the use of genomic sequencing, we now have a method to detect many of these before a child develops symptoms and hopefully improve their health outcomes.”

Screening tests

All babies born in North Carolina receive a state newborn screening for over 30 conditions, such as cystic fibrosis. Early Check uses the same blood sample to conduct whole genomic sequencing to test for 200+ serious genetic conditions that begin in childhood.

The test can also give babies a “score” indicating their chance of developing Type 1 diabetes, one of the most common chronic childhood conditions that can present with a potentially fatal complication called diabetic ketoacidosis, Holly Peay, senior research scientist at RTI International and Early Check’s lead investigator, told Healthcare Brew in an email. The rate of Type 1 diabetes is on the rise among children in the US under the age of 20, a 2020 CDC study found.

“Identifying children at higher risk allows parents and doctors to monitor those children more closely, start treatment at the first signs that Type 1 diabetes may be developing, and improve health outcomes,” Peay said.

If Early Check confirms that a patient has a rare genetic condition, families receive educational information, genetic counseling, and referrals to specialists across North Carolina to develop a treatment plan.

Diagnostic odyssey

An early diagnosis of a rare condition can help patients avoid a “diagnostic odyssey,” or when a patient may live with symptoms of a disease for years before identifying it, accruing healthcare costs along the way, Paul Kruszka, chief medical officer at genome testing company GeneDx, which performs screenings for Early Check, told Healthcare Brew in an email.

North Carolina is not the only state looking into whole genome sequencing at birth. In California, Project Baby Bear used rapid whole genome sequencing in infants hospitalized in intensive care to guide treatment, and for 31 children, the estimated savings from these tests was between $2.2–$2.9 million in a “reduction in hospital costs and professional fees,” the 2021 study found.