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.

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

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
July 2020

A Taste of eGNA: Now Expanding with Project ECHO

A Taste of eGNA: Now Expanding with Project ECHO

The Southeast Regional Genetics Network (SERN) is ready to launch its first Project ECHO platform for genetic disorders. Our first pilot project will focus on a multidisciplinary medical education approach focused on training genetic metabolic providers. We are currently recruiting for the Genetic Nutrition ECHO program which will launch in the fall of 2020. We hosted an ECHO methodology demonstration on Wednesday, April 29 where more than 300 genetic professionals, public health professionals, and other providers registered to learn more about Project ECHO. We had three case presenters from different institutions, active audience participation, and faculty experts who provided recommendations. If you are a genetic professional, currently seeing patients, we would like your help in completing the Genetic Nutrition ECHO Needs Assessment.

In addition, if you are interested in further educational opportunities, you will be directed to complete the Participant Interest Form after completing the needs assessment, which the ECHO team will use to enroll the first trainee cohort for the program and interested members will be provided with more details. For any further questions please contact egna@emory.edu.

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