Each year, approximately 10 million newborns worldwide are screened for congenital disorders. Every birthing center and children’s hospital in the United States is involved at some step in newborn screening, which poses unique workflows and challenges for clinical laboratories and physicians.
Ronald Whitley, PhD, of the University of Kentucky, will moderate the symposium this afternoon at 2:30 p.m., “Current Practices and New Innovations in Newborn Screening” to walk attendees through the entire newborn screening process from collection to clinical management, guided by international experts.
“There is an increasing role for clinical laboratories to advise pediatricians in newborn screening,” says Whitley, and he plans to outline just that.
Whitley chairs the Clinical and Laboratory Standards Institute (CLSI) expert panel on newborn screening, and will discuss the many newborn screening-related guidelines and additional resources available through CLSI, including the blood collection on filter paper, follow-up testing, and specific disorders. Two exciting new updates to existing CLSI documents provide guidance on mass spectrometry testing and blood collection standards. These resources are invaluable for the clinical laboratory community as they provide international best practice consensus as well as guidance and standards to achieve accurate newborn screening results.
Newborn screening starts with collection of an acceptable specimen, and Carla Cuthbert, PhD, from the Centers for Disease Control and Prevention (CDC) will discuss CDC’s efforts in this arena. CDC provides quality assurance materials for dried blood spot specimens, administers a quality assurance program for newborn screening test results, and provides technical support for anticipated newborn screening conditions that may require new testing platforms.
Once testing is completed, proper interpretation of test results is imperative to minimize false positive and false negative results. Piero Rinaldo, MD, PhD, of the Mayo Clinic will describe strategies to further improve newborn screening by using disease-specific reference ranges, second-tier testing, and post analytical interpretive tools. Rinaldo is a global leader in improving newborn screening results interpretation through software tools that utilize multivariate pattern recognition, and will share his experience during the symposium.
Labs communicate presumptive screen-positive patient results to primary care physicians and follow-up centers, with the baton for follow-up and long-term monitoring passed onto hospitals. Uttam Garg, PhD, of Children’s Mercy Hospital in Kansas City, will discuss labs’ role in this process. Many metabolic disorders require immediate clinical and laboratory follow-up, but confirmatory testing of screen-positive results can be challenging if no specialized laboratories are nearby.
Garg also will discuss other challenges including small sample volume, specialized specimen transport needs for confirmatory laboratories, how to select referral laboratories, communicating clinical information to testing laboratories, and communicating and interpreting critical results to clinicians.
Ongoing communication with clinicians is important for optimal clinical management of abnormal newborn screens. Jennifer Gannon, MD, of Children’s Mercy Hospital in Kansas City, a leader involved in the care of patients with abnormal newborn screens, will discuss newborn screening from clinicians’ perspective. Presumptive screen-positive results must be communicated effectively, which requires coordination between key stakeholders for prompt diagnosis. New and better treatment options are available, which continue to improve patient outcomes.
From sample collection to clinical management, today’s symposium will give a solid overview of the newborn screening process and the diligence it requires to maintain quality and properly diagnose and treat these tiny patients.