SERN | Southeast NBS & Genetics Regional Collaborative

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About

Beginning in 2004, HRSA MCHB funded a series of Regional Collaborative Projects throughout the United States. This funding aimed at overcoming and developing regional approaches to maldistributions of genetics services and expertise within each region. The initial phase of funding lasted three years and was awarded to SERGG, Inc.

In the winter 2006 a five year competitive renewal application was issued. During this time SERGG requested that another institution serve as the applicant agency. Emory University took the responsibility and now serves as the grantee for the cooperative agreement. Award notices were issued in May 2007 and the region received funding for core and priority activities. These activities are solely supported by HRSA and in-kind staff time, where appropriate.

In 2012 a second five year competitive renewal was awarded to Emory University for the continuation of the activities begun in 2006.

In 2016 HRSA announced a three year competitive renewal and a name change from the Regional Genetics Collaborative to the Regional Genetics Network. In 2017, Emory University received the notice of grant award for continued development of new telemedicine programs, as well as optimization of existing telegenetics programs looking to grow and become more sustainable in the southeast region.

The program intends to improve health equity and health outcomes in individuals with genetic conditions, reduce morbidity and mortality caused by genetic conditions (including congenital and metabolic disorders); and to improve the quality of coordinated and comprehensive genetic services to children and their families.

The purpose of the Southeast Regional Genetics Network is to:

  1. Link medically underserved populations (based on poverty, rural geographic location, and/or populations that experience health disparities) to genetic services
  2. Implement quality improvement activities to increase the connection with genetic services for the medically underserved
  3. Implement evidence-based innovative models of telehealth and/or telemedicine with a focus on clinical genetics outreach
  4. Provide resources to genetic service providers, public health officials and families.
  5. Improve coordinated long-term follow-up and delivery of comprehensive genetic services.

Links to this application are available here.

This funding establishes a set of reporting requirements, along with performance metrics, for the region. For additional information about HRSA and its grant opportunities please visit hrsa.gov.

June 29, 2017

Rani H Singh, PhD
Project Director
Dr. Singh is Professor and Director of the Metabolic Nutrition Program at Emory University School of Medicine Department of Human Genetics.
Hans C. Andersson, MD
Co-Project Director
Hans C. Andersson, MD, FACMG is Director of the Hayward Genetics Center and Gore Chair of Human Genetics at Tulane University Medical Center. He is the Director of the Biochemical Genetics Lab and is actively involved in clinical care of patients with inborn errors of metabolism. He has been Co-Principle Investigator of the SERC HRSA initiative since 2006 and is the lead for activities involving emergency preparedness and telegenetics.
Elizabeth Krupinski, PhD
Dr. Krupinski has spent over 25 years working on medical image perception research and over 20 years conducting telemedicine research. She has conducted numerous observer performance studies on the effects of various image manipulations and environmental reading conditions on clinical observer performance. She has served as PI on a number of other very successful radiology, pathology and telemedicine grants, including one establishing the Southwest Telehealth Resource Center. Thus she is well qualified to serve as a collaborator on this telemedicine-based project. Her role on the project will be to help with providing advice about telemedicine, study design, conduct and analyses for the proposed project.
Gaurav Dave, DrPH, MD
Evaluation Chair
Dr. Dave has a medical degree from the University of Pune, India and worked as an emergency room physician in Mumbai, before coming to the U.S. in 2004. He attended the University of North Carolina at Greensboro and completed a Masters and a Doctorate in Public Health in 2006 and 2011 respectively, with a concentration in public health, community-based prevention research and evaluation. Dr. Dave’s research interests includes the Evaluation, Systems Science, and Methods Research to reduce disparities associated with Cardiovascular Diseases, Hypertension and Sickle Cell Disease.
Yetsa Osara
As an Associate Director of Research Projects at Emory University, Yetsa is responsible for managing complex research projects such as the Newborn Screening Connect (NBS Connect) patient registry and the Nutrition Management Guidelines project. She has a proven track record of successfully working with cross functional and geographically dispersed teams to complete both long and short-term project goals. She has extensive experience in providing expertise and guidance in managing the day-to-day activities of grant-funded research projects, and brings a wealth of knowledge in running global disease registries, developing health promotion best practices (both evidence and consensus-based), data evaluation, partnering with parent organizations, industry professionals, government agencies and domain experts to improve systems and increase project efficiency.

Organization Chart
Grant Details
SERN Highlights
May 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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© 2006-2017   —   SOUTHEAST REGIONAL GENETICS NETWORK   —   A HRSA SUPPORTED PARTNERSHIP   —   GRANT #UH7MC30772