Long-Term Follow-Up Workgroup | HRSA Southeast Regional Genetics Network

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.

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.

Selected Publications

Peer-reviewed journal article

Top

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.