Recently, JMC staff had the opportunity to attend the APHL Newborn Screening and Genetic Testing Symposium in New Orleans, Louisiana. Newborn screening (NBS)—recognized as the largest and most successful disease prevention system in the US—is the practice of testing every newborn for certain harmful or potentially fatal conditions that are not otherwise apparent at birth. NBS tests take place before the newborn leaves the hospital and identify serious, life-threatening conditions before symptoms begin. Although such conditions are usually rare, they can affect a newborn’s normal physical and mental development. Early detection is crucial to prevent death or a lifetime of severe disabilities.
The JMC team was at the NBS Symposium to support a poster and a Health IT session that highlighted the newly released Building Blocks Guide: Newborn Screening Health IT Implementation Guide and Toolkit.” JMC partnered with NewSTEPS and the Virginia State Public Health Laboratory to author the guide, which is intended to help states implement data exchange for newborn screening. Building Blocks walks laboratory staff through the stages of implementation and provides tools to assist with these tasks. The session focused on the challenges and successes of exchanging NBS orders and results with their submitting hospitals. The session’s presenters emphasized the utility of the guide and encouraged the audience to review it on the NewSTEPs website: https://www.newsteps.org/sites/default/files/Building%20Blocks%20Guide%20Version%201.0.pdf
The JMC team noted that many of this year’s symposium presentations stressed the importance of quality assurance in NBS. One presentation by Yvonne Kellar-Guenther reviewed the results of a NBS Program needs assessment in her talk “Analyzing Patterns in NewSTEPs Site Review Recommendations: The Big Picture for Newborn Screening Programs”. This assessment highlighted 6 areas where NBS programs required support: Communication, Information Technology, Education, Organizational Structure, Continuity of Operations (COOP) and Funding and Policy. She identified communication within and outside NBS programs as an area needing attention especially with regard to quality assurance indicators. Interestingly, the reviewers also found that a gap in NBS programs stemmed from the under-utilization of the LIMS in the laboratory and the lack of integration with NBS follow-up programs.
JMC is keenly aware that the strategic use of LIMS and effective communication between laboratorians and IT can significantly enhance all aspects of laboratory operations. The JMC team has therefore developed targeted methodologies for addressing these gaps in the public health laboratory setting.
Rhonda West, another presenter at the symposium, also underscored the importance of robust communication in her talk “Partnering with a University Data Science Department to Develop Innovative Tools for the Analysis and Reporting of Newborn Screening Data”. West outlined the steps the Virginia NBS program took to automate the production of its hospital report card, automate NewSTEPS monthly reporting, visualize disease reporting, and explore false positive statistics. The Virginia NBS program partnered with data science students from a local university to streamline reporting and fill gaps in the existing LIMS automation. This project is a great example of improving communication and data management by forging new partnerships across agencies.
This was the first APHL NBS Symposium JMC has attended, and we found it was an extremely valuable experience to network with our partners and peers. We look forward to continuing our work in this vital public health program. To view all the presentations made at this year’s Symposium, check them out at on the APHL Website.