Happy Birthday, Early Check! One year ago this month, Early Check transitioned to screening babies for hundreds of serious health conditions using genome sequencing. To date, we've screened over 2000 babies using genome sequencing.

Who We Are

Who We Are

Our Story

Early Check is led by RTI Internationalan independent nonprofit research institute dedicated to improving the human condition. RTI's headquarters are in Research Triangle Park, North Carolina. 

Early Check grew from RTI’s research on newborn screening and focus on improving the lives of individuals and families with special healthcare needs. Shortly after birth, most babies in the United States go through a series of tests, called newborn screening. The tests help doctors act quickly to help babies with treatable rare health conditions that might otherwise go unnoticed and could be deadly.

In 2018, Early Check began offering additional free elective screening for newborns for conditions not part of standard newborn screening. In partnership with the North Carolina State Laboratory of Public Health, the University of North Carolina at Chapel Hill, Duke University, and Wake Forest Baptist Medical Center, Early Check began by screening for a small panel of genetic conditions, including fragile X syndrome and fragile X premutation, spinal muscular atrophy, and Duchenne muscular dystrophy and related neuromuscular conditions, using the same dried blood spot taken during standard newborn screening. In 2023, Early Check expanded to offering screening for over 200 conditions using genome sequencing. Early Check now screens for some of the same conditions as standard newborn screening plus many more and assesses a newborn’s lifetime risk of developing type 1 diabetes. “This is the first study in the U.S. to offer both genome sequencing and genetic risk scores for type 1 diabetes on a statewide basis,” said Holly Peay, Early Check Director. Over time, as we learn more about conditions, the conditions tested by Early Check change.

Our team at RTI brings a range of expertise to newborn screening, including medical genetics, laboratory testing, genetic counseling, health communication, public health, informed decision making, ethics, family adaptation, special education, and child assessment.

“We are in a really lucky time where technology is allowing us to do amazing things and we are able to, with one test on one tiny blood spot, say an enormous amount about the health of a newborn and that is incredibly powerful” – Holly Peay

 

Who Are Our Partners?

Historically, Early Check has benefited from our unique partnerships with the North Carolina State Laboratory of Public Health (NCSLPH), the University of North Carolina at Chapel Hill (UNC), Wake Forest University, and Duke University. Each legacy partner has brought expertise that helps Early Check improve the well-being of babies and families across the state and beyond.  

Currently, our partner academic institution is the University of North Carolina at Chapel Hill. We continue to rely on our relationship with theNorth Carolina State Laboratory of Public Health (NCSLPH) to make Early Check possible. NCSLPH conducts standard newborn screening on all babies born in the state using the blood sample taken from the baby’s heel in the hospital. 

"As we develop new treatments for rare diseases we need a way to detect them in infants prior to onset of symptoms. Many of these conditions have no screening method available except through genomic sequencing. The Early Check project is providing critical evidence about using this technology for newborn screening to improve the lives of children with rare diseases." - Cynthia Powell, MD, FACM

Who Are Our Supporters?

Early Check was initially supported by the National Institutes of Health (NIH) through the National Center for Advancing Translational Sciences program. It received $5 million to launch and sustain the program statewide for the first five years.

Early Check is supported by a public-private partnership.

Current Supporters:

Principal Supporters ($1,000,000+/year) 

Champion Supporters ($250,000/year) 

Donors (<$250,000/year) 

Current laboratory partner:

Legacy laboratory partners:

Legacy supporters include: 

Meet Our Team

Our team brings a range of expertise to newborn screening, including medical genetics; laboratory testing; genetic counseling; health communication; public health; informed decision making; ethics; family adaptation; special education; and child assessment.

Click the links below to meet the RTI team and our current partners.