SERN | Southeast NBS & Genetics Regional Collaborative

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Professionals

The Southeast Regional Genetics Network (SERN) is a federally-funded initiative dedicated to improving the health and quality of life of individuals with heritable disorders.  Providing professionals with up-to-date, relevant information about newborn screening (NBS) and genetics is an important goal of SERN.  Below are links to information and resources specific to public health and medical professionals.

Personnel Directory
The regional directory of genetics and other related services provides comprehensive regional information about genetics services available within the region. This searchable database holds information for consumers, clinicians, and researchers.
Centers Directory
The regional directory of genetics and other related services provides comprehensive regional information about genetics services available within the region. This searchable database holds information for consumers, clinicians, and researchers.
Nutrition Management Guidelines
The Nutrition Guideline project develops nutrition guidelines for the management of genetic metabolic disorders using both evidence-based and consensus-based methods. The completed guidelines will be published on both the SERN and GMDI websites.
electronic Nutrition Genetics Academy
eGNA case conference and journal club are a series of free online educational modules providing evidence-based knowledge about nutrition management for inherited metabolic disorders.
NBS Connect
The Newborn Screening (NBS Connect) patient registry serves as an internet-based support network for parents, guardians, and individuals with inherited metabolic disorders (IMDs). NBS Connect captures and analyzes information related to IMDs in an effort to assess gaps in service, access to care and to develop best standards of practice for clinical management and connect families to research opportunities. NBS Connect strives to improve the quality of care of individuals with IMDs.
Video Presentations
Selected video presentations from Lunch and Learn series and SERN conferences.

Last Modified: Jun 16, 2017

News
PKU Lunch and Learn with SERN - January 31 at 12pm EDT - Limited WebEx slots available
PKU Lunch and Learn with SERN - January 31 at 12pm EDT - Limited WebEx slots availablePlease join us Tomorrow, January 31stat 12:00 pm (noon) at the Emory Conference Center Hotel Azalea room (Lunch Buffet from 11:30a-12:00p in the…

Tasting Tradition Discussion Panel - Free webinar on PKU diet and meal planning
Tasting Tradition Discussion Panel - Free webinar on PKU diet and meal planningDear PKU Community, On Tuesday, December 19th at 12 PM EST, Baby's First Test is hosting a discussion panel on newborn…

National PKU Awareness Day: December 3, 2017
National PKU Awareness Day: December 3, 2017The first National PKU Awareness Day, December 3, 2012, was established by a Congressional Resolution introduced by two U.S. Senators…

SERN Events
<< << April 2018 >> >>
S M T W T F S

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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