当前位置： SCI文献检索 > BMC Pediatrics期刊下所有文献 > Early Check: translational science at the intersection of public health and newborn screening.

Early Check: translational science at the intersection of public health and newborn screening.

Abstract：

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.

journal_name

BMC Pediatr

journal_title

BMC pediatrics

authors

Bailey DB Jr,Gehtland LM,Lewis MA,Peay H,Raspa M,Shone SM,Taylor JL,Wheeler AC,Cotten M,King NMP,Powell CM,Biesecker B,Bishop CE,Boyea BL,Duparc M,Harper BA,Kemper AR,Lee SN,Moultrie R,Okoniewski KC,Paquin RS,Pe

doi

10.1186/s12887-019-1606-4

subject

Has Abstract

pub_date

2019-07-17 00:00:00

pages

238

issue

issn

1471-2431

pii

10.1186/s12887-019-1606-4

journal_volume

pub_type

杂志文章

在线工具

Early Check: translational science at the intersection of public health and newborn screening.