Expanding the Newborn Screening Program

Critical Funding for SC Department of Health and Environmental Control’s (DHEC) Expansion of the Newborn Screening Program

By: R. Brent Dixon, Ph.D., HCLD
Assistant Bureau of Laboratories Director, SC DHEC

Lucy H. Gibson, MSW, LMSW
Director, Division of Children’s Health, SC DHEC


The South Carolina Newborn Screening Laboratory, in conjunction with the Newborn Screening Follow-Up program, will initiate an April 1 fee increase from $81.78 to $127.00 to allow the lab to add staff, update instrumentation, and expand its testing menu.  Additional staffing will help to shorten the turnaround time for test results.  Newer instrumentation will provide a higher level of reliability and scope of assays.  Additional tests will allow for early detection of conditions that can be difficult to diagnose and need prompt treatment.

DHEC is planning for the additional screenings, based on the current Recommended Uniform Screening Panel (RUSP) from the Health Resources and Services Administration (HRSA) Secretary Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC).   These conditions are Mucopolysaccharide Storage Disease 1(MPS 1), Pompe Disease, and X-linked adrenoleukodystrophy (X-ALD).  A specialty workgroup has convened to begin planning for adding these conditions to the state’s screening panel.  This process is expected to take approximately one year.  SCHA and DHEC will be hosting a webinar in the spring that will provide more details about this process and information about the conditions.  

These efforts are crucial in detecting undiagnosed metabolic and congenital disorders in newborns.  Fewer missed cases will protect the babies, the care providers and the public health of South Carolina.  This additional fee will also provide for next-day FedEx courier service from all birthing hospitals to the lab for initial blood spots, thus shifting the courier cost from the hospitals to DHEC.  DHEC will notify each hospital of the start date for FedEx service and provide guidance needed for successful implementation.  

The NBS Program and SCHA are also working to reduce the number of unsatisfactory specimens with care providers and hospitals.  Unsatisfactory specimens occur when the specimen was not properly collected, had an inadequate amount of specimen collected or was not labelled properly.  Any unsatisfactory specimen must be recollected to avoid delays in care for infants with conditions on the panel.   Additional collections are uncomfortable for the infant, stressful for parents, and costly. Throughout 2016, the Newborn Screening Program, in collaboration with SCHA, provided training sessions on how to properly collect a NBS bloodspot and plans to offer additional training in 2017.

In addition, DHEC anticipates implementing a new lab data system, Specimen Gate, in late spring of 2017.  This system will have an E-Report feature that will allow physicians to access newborn screening results online using a secure log-in. 

DHEC commends SCHA for their support of these efforts and their strong commitment to newborn screening quality improvement processes.  Our continued collaboration will help South Carolina’s infants get the best possible start in life through early diagnosis and treatment of the conditions on the screening panel.

01-16-2017 12:49 (EST)