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Related Concept Videos

Genetic Screens02:46

Genetic Screens

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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
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Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
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Implementing Statewide Newborn Screening for New Disorders: U.S. Program Experiences.

Yvonne Kellar-Guenther1,2, Sarah McKasson3, Kshea Hale4

  • 1Center for Public Health Innovation, CI International, Littleton, CO 80120, USA; msontag@ciinternational.com.

International Journal of Neonatal Screening
|October 19, 2020
PubMed
Summary
This summary is machine-generated.

Implementing statewide newborn screening for Pompe, MPS I, ALD, and SMA takes significant time, with laboratory readiness being a key factor. Collaboration aids implementation, while staffing shortages present a major barrier.

Keywords:
Mucopolysaccharidosis type I (MPS I)PompeSpinal Muscular AtrophyX-linked adrenoleukodystrophy (ALD)new conditionsnewborn screeningnewborn screening readiness

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Area of Science:

  • Genetics
  • Public Health
  • Pediatrics

Background:

  • Newborn screening (NBS) programs are crucial for early detection of genetic and metabolic disorders.
  • Expanding NBS panels to include conditions like Pompe disease, MPS I, ALD, and SMA requires assessing program readiness.
  • Understanding implementation timelines and barriers is vital for efficient expansion of NBS.

Purpose of the Study:

  • To evaluate the time and factors involved in implementing statewide newborn screening for four specific disorders.
  • To assess the readiness of NBS programs across different phases of implementation.
  • To identify facilitators and barriers encountered during the statewide rollout of new NBS tests.

Main Methods:

  • Data collected from 39 newborn screening programs.
  • Readiness assessed through four phases: approval, capabilities (lab, IT, follow-up), education, and implementation.
  • Survival curve analysis used to estimate median time to statewide screening.

Main Results:

  • 17 states (43.6%) implemented at least one new disorder statewide.
  • Median implementation times varied: Pompe/MPS I (75 months), ALD (66 months), SMA (20 months).
  • Laboratory readiness was a lengthy process (approx. 39 months); staffing/hiring challenges were the primary barrier.

Conclusions:

  • Statewide implementation of new NBS disorders is a lengthy process, often exceeding several years.
  • Laboratory capacity and adequate staffing are critical for successful NBS expansion.
  • Inter-program collaboration and effective hiring strategies are key facilitators for overcoming implementation hurdles.