Early Check

Our Story

Early Check is led by RTI International, an 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 screened 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. Over time, as we learned more about conditions, the conditions tested by Early Check changed.

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.

"Early Check is an important initiative that screens newborns in North Carolina for serious health conditions. Our impact resonates far and wide, having reached over 30,000 families. Through our collective commitment to supporting families, we can help babies identified with serious health conditions have the best start possible." -Curt Scharfe

Legacy laboratory partners:

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.

Early Check is grateful for the input and expertise from our Monogenic and Type 1 Diabetes Advisory Committees.

Monogenic Advisory Committee

Jeff Botkin, MD, MPH (University of Utah)

Shawneequa Collier, JD, MA (The George Washington School of Medicine and Health Sciences)

Pranesh Chakraborty, MD, FRCPC, FCCMG (University of Ottawa / Children’s Hospital of Eastern Ontario)
Kristy Crooks, PhD, FACMG (University of Colorado Anschutz Medical Campus)

Tshaka Cunningham, PhD (TruGenomix Health, the Minority Coalition for Precision Medicine, and the Faith Based Genetic Research Institute)

Scott Grosse, PhD (Centers for Disease Control and Prevention, retired)

Carolyn Jones (Industry professional, retired)

Nancy M. P. King, JD (Wake Forest University School of Medicine)

Terri Klein, MPA (National MPS Society)

Marianna Raia, MS, CGC (Expecting Health)

Virginia "Ginny" Schreiner, MD (Pediatric Partners, Raliegh)

Cathy Wicklund, MS, CGC (Myriad Genetics)

Type 1 Diabetes Advisory Committee

John Buse, MD, PhD (University of North Carolina Chapel Hill)

Robert Benjamin, MD (Duke University)

Brigitte Frohnert, MD (University of Colorado)