Early Check: translational science at the intersection of public health and newborn screening.
Early Diagnosis
Female
Follow-Up Studies
Fragile X Syndrome
/ diagnosis
Health Policy
Humans
Infant, Newborn
Informed Consent
Internet
Intersectoral Collaboration
Male
Muscular Atrophy, Spinal
/ diagnosis
Neonatal Screening
North Carolina
/ epidemiology
Outcome Assessment, Health Care
/ methods
Patient Selection
Program Evaluation
Prospective Studies
Public Health
Self-Help Groups
Translational Research, Biomedical
Newborn screening
Rare disorders
Translational science
Journal
BMC pediatrics
ISSN: 1471-2431
Titre abrégé: BMC Pediatr
Pays: England
ID NLM: 100967804
Informations de publication
Date de publication:
17 07 2019
17 07 2019
Historique:
received:
04
04
2019
accepted:
30
06
2019
entrez:
19
7
2019
pubmed:
19
7
2019
medline:
1
9
2020
Statut:
epublish
Résumé
Newborn screening (NBS) occupies a unique space at the intersection of translational science and public health. As the only truly population-based public health program in the United States, NBS offers the promise of making the successes of translational medicine available to every infant with a rare disorder that is difficult to diagnose clinically, but for which strong evidence indicates that presymptomatic treatment will substantially improve outcomes. Realistic NBS policy requires data, but rare disorders face a special challenge: Screening cannot be done without supportive data, but adequate data cannot be collected in the absence of large-scale screening. The magnitude and scale of research to provide this expanse of data require working with public health programs, but most do not have the resources or mandate to conduct research. To address this gap, we have established Early Check, a research program in partnership with a state NBS program. Early Check provides the infrastructure needed to identify conditions for which there have been significant advances in treatment potential, but require a large-scale, population-based study to test benefits and risks, demonstrate feasibility, and inform NBS policy. Our goal is to prove the benefits of a program that can, when compared with current models, accelerate understanding of diseases and treatments, reduce the time needed to consider inclusion of appropriate conditions in the standard NBS panel, and accelerate future research on new NBS conditions, including clinical trials for investigational interventions. Clinicaltrials.gov registration # NCT03655223 . Registered on August 31, 2018.
Sections du résumé
BACKGROUND
Newborn screening (NBS) occupies a unique space at the intersection of translational science and public health. As the only truly population-based public health program in the United States, NBS offers the promise of making the successes of translational medicine available to every infant with a rare disorder that is difficult to diagnose clinically, but for which strong evidence indicates that presymptomatic treatment will substantially improve outcomes. Realistic NBS policy requires data, but rare disorders face a special challenge: Screening cannot be done without supportive data, but adequate data cannot be collected in the absence of large-scale screening. The magnitude and scale of research to provide this expanse of data require working with public health programs, but most do not have the resources or mandate to conduct research.
METHODS
To address this gap, we have established Early Check, a research program in partnership with a state NBS program. Early Check provides the infrastructure needed to identify conditions for which there have been significant advances in treatment potential, but require a large-scale, population-based study to test benefits and risks, demonstrate feasibility, and inform NBS policy.
DISCUSSION
Our goal is to prove the benefits of a program that can, when compared with current models, accelerate understanding of diseases and treatments, reduce the time needed to consider inclusion of appropriate conditions in the standard NBS panel, and accelerate future research on new NBS conditions, including clinical trials for investigational interventions.
TRIAL REGISTRATION
Clinicaltrials.gov registration # NCT03655223 . Registered on August 31, 2018.
Identifiants
pubmed: 31315600
doi: 10.1186/s12887-019-1606-4
pii: 10.1186/s12887-019-1606-4
pmc: PMC6636013
doi:
Banques de données
ClinicalTrials.gov
['NCT03655223']
Types de publication
Journal Article
Observational Study
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
238Subventions
Organisme : NCATS NIH HHS
ID : UL1 TR001111
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR002489
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001420
Pays : United States
Organisme : Eunice Kennedy Shriver National Institute of Child Health and Human Development
ID : HHSN27500003
Pays : International
Organisme : NCATS NIH HHS
ID : U01 TR001792
Pays : United States
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