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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.

SERC Highlights
February 2017

SERC/GMDI announces Nutrition Management Guidelines for MSUD

SERC/GMDI announces Nutrition Management Guidelines for MSUD

Management Guidelines cover the evaluation, assessment, and management of patients known to have a particular condition. SERC and GDMI partnered to develop nutrition management guidelines based on our rigorous DNDF methodology. The creation of the nutrition management guidelines has been a multi-year project to develop evidence and consensus based guidelines of inborn errors of metabolism (IEM).   This is the first publicly available MSUD guideline to all metabolic dietitians, physicians and other clinicians. The portal utilizes a tool for development of guidelines of genetic metabolic disorders for which there is little published scientific evidence. The practice recommendations are an effort to increase standardization of care and enable outcomes studies within and across centers. When warranted by developments in MSUD research and clinical practice, these guidelines will be updated periodically and will be maintained through a Dynamic process.

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