Bailey Donald B, Gehtland Lisa M, Lewis Megan A, Peay Holly, Raspa Melissa, Shone Scott M, Taylor Jennifer L, Wheeler Anne C, Cotten Michael, King Nancy M P, Powell Cynthia M, Biesecker Barbara, Bishop Christine E, Boyea Beth Lincoln, Duparc Martin, Harper Blake A, Kemper Alex R, Lee Stacey N, Moultrie Rebecca, Okoniewski Katherine C, Paquin Ryan S, Pettit Denise, Porter Katherine Ackerman, Zimmerman Scott J
Center for Newborn Screening, Ethics, and Disability Studies, RTI International, 3040 E. Cornwallis Rd., Research Triangle Park, NC, 27709, USA.
RTI International, Seattle, WA, USA.
BMC Pediatr. 2019 Jul 17;19(1):238. doi: 10.1186/s12887-019-1606-4.
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.
新生儿筛查（NBS）在转化科学与公共卫生的交叉领域占据着独特地位。作为美国唯一真正基于人群的公共卫生项目，NBS有望让转化医学的成功惠及每一名患有罕见疾病的婴儿。这些疾病临床诊断困难，但有力证据表明，症状前治疗将显著改善预后。现实的NBS政策需要数据支持，但罕见病面临特殊挑战：没有支持性数据就无法进行筛查，但缺乏大规模筛查又无法收集足够的数据。提供如此广泛数据所需的研究规模和范围要求与公共卫生项目合作，但大多数公共卫生项目没有开展研究的资源或授权。
为弥补这一差距，我们与一个州的NBS项目合作建立了Early Check研究项目。Early Check提供了所需的基础设施，以识别那些在治疗潜力方面已取得重大进展，但需要大规模、基于人群的研究来测试益处和风险、证明可行性并为NBS政策提供信息的疾病。
我们的目标是证明一个项目的益处，该项目与当前模式相比，能够加速对疾病和治疗方法的理解，减少在标准NBS筛查项目中考虑纳入适当疾病所需的时间，并加速对新的NBS疾病的未来研究，包括研究性干预措施的临床试验。
Clinicaltrials.gov注册编号#NCT03655223。于2018年8月31日注册。
