Related Experiment Video
Updated: Jun 20, 2026
19:15
Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
Published on: August 25, 2014
86.5K
A Window of Opportunity for Newborn Screening
1RTI International, 3040 E. Cornwallis Rd., Research Triangle Park, NC, 27709, USA. dbailey@rti.org.
Molecular Diagnosis & Therapy
|May 4, 2022
Summary
Modernizing universal newborn screening (NBS) requires integrating molecular diagnostics and therapies. Key initiatives include data systems, research networks, and federal funding for harmonization.
Area of Science:
- Genetics and Genomics
- Public Health
- Translational Medicine
Background:
- Precision medicine relies on molecular diagnostics and therapies for accurate diagnoses and effective treatments.
- Universal newborn screening (NBS) is crucial for early detection and management of health conditions.
- Integrating advanced molecular technologies into NBS presents translational challenges due to complex intersecting factors.
Purpose of the Study:
- To identify key initiatives for modernizing NBS in the US.
- To stimulate discussion on preparing NBS for expanded molecular diagnostics and therapies.
- To propose strategic changes for effective implementation.
Main Methods:
- The commentary identifies five major initiatives for NBS modernization.
- These include enhancing data systems, establishing research and laboratory networks, and securing federal funding.
- The focus is on strategic integration of solutions for policy changes.
Main Results:
- Five initiatives proposed: (1) improved data integration systems, (2) national NBS research centers, (3) regional NBS lab networks, (4) new federal funding, (5) strategic solution integration.
- These initiatives aim to facilitate the adoption of molecular testing and therapies in NBS.
- Recommendations emphasize the need for policy changes for effective implementation.
Conclusions:
- Modernizing NBS is essential for leveraging molecular diagnostics and therapies.
- A multi-faceted approach involving infrastructure, research, funding, and policy is required.
- The proposed initiatives offer a roadmap for a more effective and harmonized NBS system.
Related Concept Videos
02:46Genetic Screens
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 result in visible changes...
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 result in visible changes...
01:26Pharmacokinetics in Pediatric Patients: Drug Excretion
In pediatric medicine, understanding the renal function and drug elimination nuances is crucial for administering safe and effective treatments. Newborns, in particular, display markedly slower renal functions than adults, profoundly affecting how drugs are cleared from their bodies. This slower drug clearance requires clinicians to extend the dosing intervals for many medications to prevent drug accumulation and toxicity while ensuring therapeutic efficacy.One key area where these adjustments...