A healthy-looking normal weight baby was born to a first-time mom and the family was overjoyed, but there seemed to be a problem as he couldn’t keep his formula down. The healthcare team assured Mom all was well, but within a few days the baby was pale, refusing food, had a rash and abdominal swelling. Doctors trying to figure out why the baby was so sick would have benefited from his newborn screening (NBS) results, but it took more than 3 weeks to get the report before they learned that he had galactosemia.B
By this time the stage was set for the baby to experience developmental delays by not having received an appropriate, non-galactose diet. This case, described in the Milwaukee Journal Sentinel, illustrates the challenges NBS programs face and the impact that delayed results can have.
Since starting more than 50 years ago, NBS programs have been a major public health success by preventing disability and death and providing a better quality of life for affected children. Tuesday’s session, “Integrating Laboratory Results to Increase Quality Care for Affected Newborns Identified Through Newborn Screening: What is the Optimal Workflow?” provided an overview of NBS programs and gave valuable insights into opportunities for improving their performance.
A key message of the session was that time is of the essence in NBS since many disorders are treatable only if diagnosed early. Delays in collecting and transporting specimens, in testing, and in reporting results could have serious consequences for affected babies.
NBS programs are constantly challenged by the same pre-analytical variables as clinical labs, however, the specimen workflows are more complex because NBS testing usually occurs in offsite labs.
Mary Carayannopoulos, PhD, discussed a state lab’s testing process from pre-analytical to post-analytical phases, highlighting the role of state labs generally and emphasizing the importance of timeliness in NBS. She also highlighted the major operational differences between NBS labs and clinical labs.
One strategy to improve workflows and automate timely delivery of results involves health information technology. Many programs deliver results via phone, fax, or by posting on a HIPAA-protected web server. Others are linked directly to birthing hospitals using HL7 connectivity, or are considering pilot projects to increase connectivity.
Veronica Luzzi, PhD, reviewed the post-analytical testing processes, including a health information technology initiative supported by the federal government. She also looked at current practices in Oregon and illustrated some of the challenges state labs face in implementing connectivity.
The Newborn Screening Saves Lives Reauthorization Act allows federal programs to assist states in improving their NBS programs. In 2016, Section 11 of this act required the Government Accountability Office to report to Congress on the timeliness of NBS. This report contains details of the elapsed times from birth to specimen collection all the way to delivery of a confirmed diagnosis. This has greatly influenced NBS program turnaround times and overall performance.
Some of the initiatives that have contributed to improving the turnaround times include increased educational activities on timeliness, initiating or increasing courier services around the state, increasing testing laboratory hours for receiving and processing specimens, and working closely with hospitals to identify and overcome barriers.
The next few years should bring substantial improvements in connectivity and therefore timely, higher quality care to affected newborns. The audience left with increased awareness of the complexity of NBS, including the challenges faced by NBS programs. Most importantly, attendees learned of the vital role clinical laboratories play in helping improve NBS workflows.