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New RTI International Program to Offer Free Elective Genetic Testing for North Carolina Newborns | News
New RTI International Program to Offer Free Elective Genetic Testing for North Carolina Newborns
RESEARCH TRIANGLE PARK, NC - A new program offering free elective genetic testing for newborns, developed at RTI International, will become available to North Carolina parents starting in 2018, thanks to a grant from the National Institutes of Health.
 
The program, called Early Check , grew from RTI's research on newborn screening , done in partnership with the North Carolina State Laboratory of Public Health, the University of North Carolina at Chapel Hill, Duke University, and Wake Forest Baptist Medical Center. All three sites are part of a national consortium of institutions that have received funding from the NIH through the Clinical and Translational Science Awards (CTSA) program.
 
NIH, through the National Center for Advancing Translational Sciences (NCATS), will provide $1 million per year over five years to launch Early Check statewide, offering testing for one or more genetic conditions to up to 120,000 families each year. Early Check will function as a research study, helping enable research on genetic conditions and potential treatments. This project is one of seven innovation awards funded by National Center for Advancing Translational Sciences.
 
"We hope to offer to every baby born in North Carolina the opportunity to participate in this study," said Don Bailey, Ph.D. , Distinguished Fellow at RTI and the project's principal investigator.
 
Shortly after birth, most babies in the United States go through a series of screenings for genetic disorders. The tests help doctors act quickly to help babies with conditions that can be treated, but that might otherwise go unnoticed and could be deadly.
 
The panel of conditions currently included in standard newborn screening tests leaves out some diseases that could be detected early. In some cases, tests are available, but expensive.
 
"The conditions left out of standard newborn screening do not have enough evidence that early treatment changes outcomes, something necessary for a public health program that is done universally," said Lisa Gehtland, M.D., a physician and public health analyst at RTI and the project director. Early Check researchers will provide information about whether some of these conditions are appropriate for newborn screening.
 
Highlights
  • A new program offering free elective genetic testing for newborns, developed at RTI International, will become available to North Carolina parents starting in 2018
  • The program, called Early Check, grew from RTI's research on newborn screening, done in partnership with the North Carolina State Laboratory of Public Health, the University of North Carolina at Chapel Hill, Duke University, and Wake Forest Baptist Medical Center
  • NIH, through the National Center for Advancing Translational Sciences (NCATS), will provide $1 million per year over five years to launch Early Check statewide
"Early Check is an exciting and innovative project to not only improve health outcomes, but to expand our scientific knowledge about detection and new approaches to treatment," said Alex Kemper, M.D., a pediatrician who serves as the principal investigator at Duke. "This is a complex project that only works by bringing together the State Public Health Laboratory and major research institutions across North Carolina funded through the CTSA network."
 
The Early Check team currently plans to offer screening for spinal muscular atrophy, a significant cause of death among infants, and fragile X syndrome, the leading inherited cause of intellectual disability.
 
"The North Carolina State Laboratory of Public Health is excited to be advancing the science of newborn screening through our partnership with RTI," said Scott J. Zimmerman, DrPH, MPH, director of the North Carolina State Laboratory of Public Health.
 
Parents could also gain peace of mind from the results. If a child does have one of the conditions, the early test will prevent families from going through a long diagnostic process. But most babies will turn out to be unaffected, eliminating some of the worries of new parents.
 
"From a family's point of view, these tests offer pros and cons," Bailey said. "Some families may not want to know right away if their baby will face a difficult illness. Others will see advantages, including the ability to plan for early intervention services for the affected child, or to decide whether to have more children if they might also inherit a genetic condition."
 
Early Check also differs from the standard newborn screening panel because it is designed as a research study, Gehtland said. Researchers will follow up with the families of babies who are found to have one of the conditions, offering the chance to participate in longitudinal studies or clinical trials.
 
"Without early screenings, it is extremely hard to conduct clinical studies to help infants with rare conditions," Gehtland said. "This creates a barrier to developing new therapies. Early Check will fill this gap, benefitting science as well as patients."
 
The team also hopes Early Check will make an impact on public policy. The results could lead to changes in the standard newborn screening panel, and the program itself could serve as a model for other states.
 
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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Added
2017-03-07 by Adrya Stembridge
Last Updated
2017-03-07 by Adrya Stembridge
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
 
Connect with APHL
8515 Georgia Avenue, Suite 700, Silver Spring, MD 20910

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