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New, First-of-its-Kind Virtual Repository For Newborn Screening Unveiled – New System Will Save Lives And Improve Newborn Testing

After one-and-a-half years of intense development and end-user testing and through a contract to the American College of Medical Genetics and Genomics () from the Eunice Kennedy Shriver National Institute of Child Health and Human Development, the Newborn Screening Translational Research Network (NBSTRN) has developed a centralized, web-based of newborn (DBS) as an indispensable tool for newborn screening researchers. This innovative and invaluable new system presents secure information about stored specimens in participating states, providing newborn screening researchers with a simultaneous cross-state view of available dried blood .

These dried blood spots are a result of a tiny heel stick of blood taken from newborns shortly after birth. The newborn screening program in the United States has been hailed as one of the most valuable public health programs in the past 10 years and has saved thousands of lives and saved even more children from lives of severe disability or devastating illness. The blood spots are used not only to screen babies for debilitating or life-threatening diseases but also then are used to make sure that the newborn screening tests are as accurate as possible and to develop tests for more conditions. “Everyone wants to reduce false positives and also to use these dried blood spots in a secure, anonymous, privacy-protected way to come up with the most accurate tests in the future for these very rare, serious conditions. Without research on dried blood spots more people will die or be affected by these very serious, terrible conditions,” said Michael S. Watson, MS, PhD, Executive Director of the American College of Medical Genetics and Genomics and Principal Director of the NBSTRN Coordinating Center.

This new, first-of-its-kind Virtual Repository of Dried Blood Spots (VRDBS) supplies registered researchers with centralized access to de-identified DBS nationwide, thereby providing the opportunity to easily search for and request specimens, and subsequently acquire the DBS (if approved by the state holding the specimens) from diagnosed positives and the general population. All data is centrally located to ensure fast and secure search response times, while the DBS specimens themselves remain at the state . “This is the only general population-wide resource of its kind and it is what is needed to make newborn screening better and to assure the best outcome for children now and in the future”, said Amy Hoffman, MPH, Project Manager of the NBSTRN.

“This new virtual repository of newborn screening dried blood spots is especially important because it provides scientific investigators unparalleled access to materials essential for research while ensuring that the confidentiality, upon which the highly successful newborn screening programs are based, is safeguarded,” said Barry Thompson, MD, FACMG, Medical Director, ACMG/NBSTRN.

The NBSTRN VRDBS will:

  • Automate the specimen request process, thereby expediting the search and request process overall;
  • Provide researchers with a view of de-identified data on the DBS stored in all participating states;
  • Provide insight into the data elements that each state collects (important for early stage investigators);
  • Provide a single-point to browse the rules and regulations of each state, so that researchers can know what will be required of them to interact with the state; and
  • Provide a secure, web-based interface for state NBS programs to share information more easily with the research community.

The VRDBS meets all data security requirements of the Federal Information Security Management Act (FISMA) and includes basic security features such as secure user ID and password, session timeout, role-based security administration and access, and secure data transfer. The NBSTRN Coordinating Center contracted with 5AM Solutions, Inc. to create this web-based resource. Each state that participates in the VRDBS is asked to provide basic, de-identified data without personal health information associated with the DBS they wish to include in the VRDBS. The NBSTRN VRDBS protects privacy and maintains the security of the information while meeting the very serious need to improve science and technology to save lives now and in the future.

The NBSTRN website is the information portal for accessing all of the services available to investigators including the new Virtual Repository of Dried Blood Spots. In addition to the VRDBS, the site includes helpful information for parents and the general public about newborn screening and the latest newborn screening-related news and updates. Also, please visit the ACMG Channel on youtube and take a look at the video that provides helpful information about how this will be performed. http://www.youtube.com/user/TheACMGChannel

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About the Newborn Screening Translational Research Network Coordinating Center

The Newborn Screening Translational Research Network (NBSTRN) Coordinating Center provides resources for investigators engaged in newborn screening related research. This research includes new technology development, tools for developing the clinical history of heritable disorders, and new treatment development.

The NBSTRN is funded by a contract from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH) to the American College of Medical Genetics and Genomics. NBSTRN works in collaboration with the Association for Public Health Laboratories (APHL), American Academy of Pediatrics (AAP), Genetic Alliance (GA), National Newborn Screening & Genetics Resource Center (NNSGRC), Health Resources and Services Administration (HRSA), National Library of Medicine (NLM), and Centers for Disease Control (CDC).

American College of Medical Genetics and Genomics