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AACC publications have detailed the challenges associated with newborn screening. State screening protocols lack uniformity, and there are timeliness issues associated with transporting, processing, and reporting samples.

An afternoon symposium taking place at the 69th AACC Annual Scientific Meeting & Clinical Lab Expo at 2:30 p.m. on Aug. 2, Current Practices and New Innovations in Newborn Screening (34215) will discuss these issues and more.

Approximately 10 million newborns worldwide are screened each year for anywhere from 1 to 50 congenital disorders, session moderator Ronald J. Whitley, PhD, DABCC, FACB, a professor of pathology and laboratory medicine at the University of Kentucky in Lexington, Kentucky, told CLN Stat.

“The goal of newborn screening is to identify pre-symptomatically affected newborns so that appropriate treatment can be initiated to reduce disease morbidity and mortality. However, there are many challenges with laboratory testing, communication of test results, treatment, and follow-up,” Whitley said.

The symposium will provide an overview of newborn screening and discuss these challenges in light of current practices and new innovations. It includes five 20-minute presentations and three interactive Q&A sessions. A 25-minute panel discussion will take place after the last presentation.

Whitley will give the first talk on Clinical and Laboratory Standards Institute (CLSI) guidelines for newborn screening. As the current chair-holder of the CLSI Expert Committee, he oversees all documents in the CLSI newborn screening portfolio.

Whitley plans to discuss three specific guidelines: 

  • NBS-01, Blood collection on Filter Paper for Newborn Screening Programs, 7th edition. According to Whitley, this is the centerpiece of the screening portfolio, and the only one designated as a standard—not just as a guideline. “Newborn screening begins with proper collection of the newborn’s heel-stick blood on filter paper. Timely collection and transport of these specimens to the screening laboratory is a critical first step in the process to ensure early detection of those who are at risk for disease,” he said. “Periodic updates of this document are required to maintain best professional practices and to facilitate regulatory compliance.”
  • NBS-04, Newborn Screening by Tandem Mass Spectrometry, second edition. “This document addresses numerous variations and methodological solutions to help provide consistency among screening programs and to ensure equivalent services throughout the world,” Whitley said.
  • NBS-05, Newborn Screening for Cystic Fibrosis, a guideline that is nearing final completion of its second edition.

“In the context of these newborn screening documents, I will discuss CLSI’s mission to develop best practices in clinical and laboratory testing and promote their use throughout the world, using a consensus-driven process that balances the viewpoints of industry, government, and the healthcare profession,” Whitley said.

Another faculty member for this session, Uttam Garg, PhD, director of the laboratory medicine division at Children’s Mercy Hospital in Kansas City, Missouri, and professor of pediatric pathology at the University of Missouri School of Medicine, will discuss the laboratory’s role in following-up on and long-term monitoring of abnormal newborn screens.

Garg will specifically address sample collection from very small babies as well as the selecting appropriate tests, drawing, processing, and handling samples, and transporting samples to reference labs. “Samples drawn from premature babies can be extremely challenging,” he told CLN Stat. “Some babies are so small that they will fit on the palm of your hand.”

He’ll also discuss analytical challenges such as the lack of standard materials and trained technicians, and the inapplicability of regular quality control rules.

Carla Cuthbert, PhD, branch chief of the Newborn Screening and Molecular Biology Branch at the Centers for Disease Control and Prevention’s (CDC) National Center for Environmental Health, will address national quality efforts in newborn screening.

CDC provides dry blood spot quality assurance materials and administers a comprehensive quality assurance program to support the rapid and accurate delivery of newborn screening test results, Whitley said. “In addition, CDC provides technical support for recent and anticipated newborn screening conditions that may require new and innovative testing platforms,” he said.

Piero Rinaldo, MD, PhD, professor of laboratory medicine and pathology at the Mayo Clinic in Rochester, Minnesota, will talk about automated adjustment of results and global interpretive tools to improve newborn screening performance.

Equipped with combinations of laboratory-developed tests and kits cleared by the U.S. Food and Drug Administration, screening labs are responsible for maintaining high levels of quality in their measurements to minimize false negative and false positive results. “The rate of false positive and false negative results is further minimized by the use of disease-specific reference ranges, second-tier testing, and post-analytical interpretive tools,” Whitley explained.

The final speaker, Jennifer Gannon, MD, clinical biochemical geneticist at Children’s Mercy Hospital in Kansas City, Missouri, will discuss the clinical aspects of newborn screening. Communicating presumptive screen-positive results to the primary care physician requires coordination among diagnostic laboratories, physician specialists, and other stakeholders for prompt diagnosis and optimal clinical management, according to Whitley.

“New and better treatment options are available, such as enzyme replacement therapy and bone marrow transport, which will continue to grow and improve patient outcomes,” he added.

This session will use FXP Touch, a mobile device-based audience response and engagement system AACC is using for the first time.

Attendees should expect to gain new insights on:

  1. The process of newborn screening from sample collection to initial and follow-up testing and patient management;
  2. Major challenges laboratories and clinicians encounter in newborn screening;
  3. The current and future status of newborn screening; and
  4. Quality assurance programs that support rapid and accurate test results.

Register now for the 69th AACC Annual Scientific Meeting & Clinical Lab Expo to attend this informative session on newborn screening and earn 2.5 CE hours.