SERN | Southeast NBS & Genetics Regional Collaborative

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Long-Term Follow-Up Workgroup

Overview

A newborn screening (NBS) system that operates between an established public health infrastructure and a follow-up infrastructure includes seven basic functions: education, screening, follow-up, confirmatory testing and diagnosis, treatment/management, outcome assessment, and system quality assurance. The Southeast Genetics Collaborative conducted a regional needs assessment that revealed several gaps in the functioning of the NBS system and the degree to which each system addressed the seven NBS system functions.  Among the gaps that were identified was the need to improve the long-term management of disorders detected by NBS.  The Long-Term Follow-Up (LTFU) Workgroup was established to address the need to improve long-term care of patients identified with NBS disorders.    

Membership

Rani Singh, PhD, RD, Chair

Resources/Activities
Nutrition Management Guidelines Portal

The Nutrition Managment Guideline project develops nutrition guidelines for the management of genetic metabolic disorders for which there is little published scientific evidence. Both evidence-based and consensus-based methods are used in creation of the guidelines. This process incorporates the best evidence, including published literature, "gray" literature (such as clinical protocols), and consensus of practitioners who work with metabolic disorders. Our consensus based portion will utilize both the Delphi Survey technique and the Nominal Group technique.

Under the helm of PI Rani Singh, PhD, RD (Southeast NBS and Genetics Collaborative) and co-PI Fran Rohr, MS, RD, LDN (Genetic Metabolic Dietitians International), four workgroups have been created to develop the guidelines (Amino Acidopathies, PKU, Organic Acidopathies, and Fatty Acid Oxidation Disorders). Each workgroup is made up of dietitians from all regions of the United States and utilizes the expertise of our partner organization, GMDI. Each workgroup will develop one guideline at a time and will take approximately one year to complete. The completed guidelines will be published on both the SERC and GMDI website.

   
Newborn Screening Follow-up Data Integration Collaborative (NBSDC)

Newborn Screening Follow-up Data Integration Collaborative (NBSDC) is the Emory University based project that relies on the usage of the Semantic Web technologies and ontologies to provide support, tools and services to clinicians and researchers in the field of newborn screening long-term follow-up (LTFU). It is envisioned as the integrated framework for collecting, integrating, and sharing de-identified patient LTFU data. The ultimate goal of the NBSDC is to make contribution the research community that is dedicated to the advancement of the LTFU translational research and meaningful use aiming to the improvement of patient treatment, outcomes and quality of life.

The Ontology for Newborn Screening Follow-up and Translational Research (ONSTR)

The Ontology for Newborn Screening Follow-up and Translational Research (ONSTR) is the core component of the NBSDC, designed to support computational reasoning and inferencing over the data collected during the everyday LTFU practice and research studies. ONSTR domain covers the data entities, agents and processes involved in newborn screening long-term follow-up clinical practice and translational research pertaining to the patients diagnosed with inherited or congenital diseases screened for by state managed Newborn Screening Programs nationwide. It lies the crossroads of medical nutrition, medicine, biochemistry, genetics, public health, pharmacology and related translational research and reflects the complexity and multidisciplinary nature of the practice of newborn screening follow-up. ONSTR domain includes the follow-up of all inherited and congenital diseases listed in SACHDNC-recommended uniformed screening panel (57 diseases as of Dec 2011) and will adapt/expand its domain in accordance with the updates in national level screening policies and practices.

   
NBS Connect Patient Registry NBS Connect is a Patient Registry that aims to improve the long-term health of those diagnosed with disorders identified through newborn screening (NBS). NBS Connect serves as a valuable resource for researchers, healthcare professionals, as well as patients and their families.
   
Southeast Translational Research Network (SETRN): Metabolic Consortium Chaired by Dr. Rani H. Singh of Emory University and Co-Chaired by Dr. Olaf A. Bodamer of Miami University and Dr. Robert Zori of the University of Florida, the SETRN: Metabolic Consortium is a special interest group focused on the Long-term outcomes of individuals diagnosed with Metabolic Disorders.
   

Information Technology (IT) Capacity Survey:

SERC is partnering with the Newborn Screening Translational Research Network (NBSTRN), to conduct a capacity assessment of state NBS information technology (IT) systems.

 

Selected Publications

Peer-reviewed journal article

Singh RH, Hinman AR. Newborn dried bloodspot screening: Long-term follow-up activities and information system requirements. Genet Med. Dec;12(12 Suppl):S261-6. 2010  PMID: 21150373

Singh RH, Hinman AR, Wild E. Building a model for a comprehensive newborn screening system long-term follow-up information system. Mol Genet and Metab, 2009.

SERN Highlights
April 2018

FDA permits marketing of first newborn screening system for detection of four, rare metabolic disorders

FDA permits marketing of first newborn screening system for detection of four, rare metabolic disorders

The U.S. Food and Drug Administration today permitted marketing of the Seeker System for the screening of four, rare Lysosomal Storage Disorders (LSDs) in newborns. The Seeker system is designed to detect Mucopolysaccharidosis Type I (MPS I), Pompe , Gaucher and Fabry . It is the first newborn screening test permitted to be marketed by the FDA for these disorders.

LSDs are a group of rare, inherited metabolic disorders in which enzymes (proteins) that normally eliminate unwanted substances in the body's cells are not at normal levels or functioning properly. According to the U.S. Department of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children, MPS I, Pompe, Gaucher and Fabry occur in approximately 1 in 1,500 to no more than 1 in 185,000 newborns and children, depending on the disorder. If not detected and treated in a timely manner, these disorders may cause organ damage, neurological disability or death.
 
"The Secretary of HHS recently added Pompe and MPS I to the list of routine recommended newborn screening programs and it is anticipated that additional states will begin requiring use of screening tests to detect these disorders," said Alberto Gutierrez, Ph.D., director of the Office of In Vitro Diagnostics and Radiological Health in the FDA's Center for Devices and Radiological Health. "Accurate screening tests will help with early detection, treatment and control of these rare disorders in newborns, before permanent damage occurs. That's why availability of LSD screening methods that have been assessed for accuracy and reliability by the FDA are so important."
 
Several states currently mandate LSD screening in all newborns, including Arizona, Illinois, Kentucky, Michigan, Missouri, New Jersey, New Mexico, New York, Ohio, Pennsylvania and Tennessee. However, until today there were there were no FDA-authorized devices for screening of these disorders. Availability of the Seeker System provides laboratories with a screening tool that has been reviewed by the FDA for clinical and analytical validity.
 
The Seeker System, consisting of the Seeker LSD Reagent Kit- IDUA|GAA|GBA|GLA and Seeker Instrument, works by measuring the activity level of proteins required for healthy lysosomal storage found in dried blood samples collected from the prick of a newborn's heel 24 to 48 hours after birth. The Seeker Instrument is a device that automates the analysis of dried blood spots. Reduced enzyme activity of proteins associated with any of the four LSDs detected by the kit may indicate presence of a disorder. Results showing reduced enzyme activity must be confirmed using other testing methods, such as biopsies, genetic and other laboratory tests.
 
The FDA reviewed the data for the Seeker System through the de novo premarket review pathway, a regulatory pathway for devices of a new type with low-to-moderate-risk that are not substantially equivalent to an already legally marketed device and for which special controls can be developed, in addition to general controls, to provide a reasonable assurance of safety and effectiveness of the devices. During this process, the FDA evaluated data from a clinical study of 154,412 newborns in Missouri whose dried blood samples were tested for protein activity associated with MPS I, Pompe, Gaucher and Fabry. Efficacy was determined because the system was able to accurately identify at least one of each of these four LSDs in 73 of the screened newborns.
 
Risks associated with use of the screening system include false negative findings. As part of this study, the Missouri State Public Health Laboratory conducted active surveillance of four of the state's metabolic clinical centers for new diagnoses of these disorders. The state laboratory's surveillance activities extended 15 months following the study's completion to determine cases of false negatives that had not been identified during the study. No false negative results were identified either through the study or the state's 15-month surveillance program.
 
The Seeker System was created with funding from the Small Business Innovation Research program in National Institutes of Health's Eunice Kennedy Shriver National Institute of Child Health and Human Development. It is manufactured by Baebies Inc., located in Durham, North Carolina.
 
The FDA, an agency within the U.S. Department of Health and Human Services, promotes and protects the public health by, among other things, assuring the safety, effectiveness, and security of human and veterinary drugs, vaccines and other biological products for human use, and medical devices. The agency also is responsible for the safety and security of our nation's food supply, cosmetics, dietary supplements, products that give off electronic radiation, and for regulating tobacco products.
 
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JELILI OJODU, MPH | Director, Newborn Screening and Genetics
Association of Public Health Laboratories | Analysis. Answers. Action.
P +1 240.485.2772 | F +1 240.485.2700 | jelili.ojodu@aphl.org
 
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