Newborn Screening-A Worldwide Endeavour to Protect.

IF 4 Q1 GENETICS & HEREDITY
James R Bonham, Dianne Webster, Amy Gaviglio, Aysha Habib Khan, R Rodney Howell, Peter C J I Schielen
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引用次数: 0

Abstract

For more than 60 years, newborn (or neonatal) screening has flourished through global collaboration, demonstrating that collective action is key to success. This unity proved to be especially vital during the COVID-19 pandemic, when, despite severe disruptions, NBS services were largely preserved, reflecting the high value placed on early detection and care for vulnerable newborns. Today, the International Society for Neonatal Screening (ISNS) recognises that NBS programmes face increasing challenges due to global instability. While direct assistance is not always possible, ISNS emphasises the strength of the international NBS community-scientists, clinicians, patient groups, and industry partners-who are committed to mutual support and knowledge-sharing. Building on the proud legacy inspired by pioneers like Bob Guthrie, this community is enriched by diverse voices and is unified by a shared vision: to ensure that all children with rare disorders have access to life-saving screening and care. Safeguarding and advancing this foundation is a responsibility owed to future generations.

新生儿筛查——一项全球性的保护努力。
60多年来,通过全球合作,新生儿(或新生儿)筛查工作蓬勃发展,这表明集体行动是成功的关键。事实证明,这种团结在2019冠状病毒病大流行期间尤为重要,当时,尽管受到严重干扰,国家统计局的服务基本上得到了保留,这反映了对弱势新生儿的早期发现和护理的高度重视。今天,国际新生儿筛查协会(ISNS)认识到,由于全球不稳定,国家统计局计划面临越来越多的挑战。虽然直接援助并不总是可能的,但ISNS强调国际NBS社区的力量-科学家,临床医生,患者团体和行业合作伙伴-他们致力于相互支持和知识共享。在鲍勃·格思里(Bob Guthrie)等先驱者鼓舞下的光荣遗产的基础上,这个社区因不同的声音而丰富起来,并因共同的愿景而团结起来:确保所有患有罕见疾病的儿童都能获得挽救生命的筛查和护理。维护和发展这一基础,是对子孙后代的责任。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
International Journal of Neonatal Screening
International Journal of Neonatal Screening Medicine-Pediatrics, Perinatology and Child Health
CiteScore
6.70
自引率
20.00%
发文量
56
审稿时长
11 weeks
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