Project Details
Description
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PROJECT SUMMARY
Newborn screening (NBS) has been an integral part of preventable health care since the 1960’s. In recent
years, new screening technologies have led to a remarkable expansion of the numbers and types of disorders
on NBS panels. For each new disorder under consideration, we are faced with the need to evaluate and
optimize screening methodology and accuracy, and to objectively analyze the clinical benefit and potential
risks of screening. Pilot NBS are an ideal way to gather this essential information and is recognized as such by
Public Law 113-240 Sec 116 of the Newborn Screening Saves Lives Reauthorization Act of 2014, which
encouraged the NIH to “conduct pilot studies on conditions recommended by the Advisory Committee to
ensure that screenings are ready for nationwide implementation.” In our first funding cycle, we conducted a
highly productive pilot NBS for lysosomal storage disorders (LSDs) in conjunction with the renowned New York
State NBS Program. We have demonstrated that our pilot screen infrastructure is a robust, efficient, and cost-
effective program that is easily conducive to expansion and modification. Thus, in this proposal we will
capitalize on our experience to create “NY ScreenPlus,” a fully comprehensive, fluid, pilot NBS program that
will screen consented infants for specific disorders that are under consideration for mass NBS, and then follow
screen positive children over time to gather crucial data about the impact of NBS on outcome. Our initial pilot
panel will include acid sphingomyelinase deficiency, cerebrotendinous xanthomatosis, ceroid lipofuscinosis
type 2, Gaucher disease, Fabry disease, lysosomal acid lipase deficiency, metachromatic leukodystrophy,
MPS II, IIIb, IVa, VI, and VII, and Niemann Pick type C. Compared with the first pilot screen, there are several
key improvements. NY ScreenPlus will be significantly larger in terms of number of disorders on the panel,
geographic area, and number of screened infants. It features a novel cost- and data-sharing model between
NIH, several Industry Sponsors, and disease-specific Advocacy groups. Expert Scientific and Community
Advisory Boards have been assembled to provide critical oversight and guidance. Lastly, we will work with
NBSTRN’s Bioethics and Legal workgroup to utilize our pilot infrastructure to address key ethical, legal, and
social issues (ELSI) associated with NBS. Overall, our goals are to 1) determine disease incidence in an
ethnically diverse population, 2) define the analytic and clinical validity of the screening tests, 3) use
longitudinal clinical, biomarker, radiographic, and biochemical data to gather objective evidence about the
impact of NBS on phenotype, and 4) analyze the ELSI associated with screening newborns for complex
disorders. In sum, NY ScreenPlus will provide critical, detailed data to help guide objective, ethically sensitive
decision-making about NBS.
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Status | Active |
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Effective start/end date | 9/4/12 → 7/31/24 |
Funding
- National Institute of Child Health and Human Development: $572,384.00
- National Institute of Child Health and Human Development: $631,517.00
- National Institute of Child Health and Human Development: $570,420.00
- National Institute of Child Health and Human Development: $555,260.00
- National Institute of Child Health and Human Development: $620,440.00
- National Institute of Child Health and Human Development: $562,366.00
- National Institute of Child Health and Human Development: $686,197.00
- National Institute of Child Health and Human Development: $642,968.00
- National Institute of Child Health and Human Development: $624,447.00
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