Palmer Elizabeth Emma, Cederroth Helene, Cederroth Mikk, Delgado-Vega Angelica Maria, Roberts Natalie, Taylan Fulya, Nordgren Ann, Botto Lorenzo D
Discipline of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia.
Centre for Clinical Genetics, Sydney Childrens' Hospitals Network, Sydney, NSW, Australia.
NPJ Genom Med. 2024 Jul 5;9(1):37. doi: 10.1038/s41525-024-00422-y.
Rare diseases are recognized as a global public health priority. A timely and accurate diagnosis is a critical enabler for precise and personalized health care. However, barriers to rare disease diagnoses are especially steep for those from historically underserved communities, including low- and middle-income countries. The Undiagnosed Diseases Network International (UDNI) was launched in 2015 to help fill the knowledge gaps that impede diagnosis for rare diseases, and to foster the translation of research into medical practice, aided by active patient involvement. To better pursue these goals, in 2021 the UDNI established the Diagnostic Working Group of the UDNI (UDNI DWG) as a community of practice that would (a) accelerate diagnoses for more families; (b) support and share knowledge and skills by developing Undiagnosed Diseases Programs, particularly those in lower resource areas; and (c) promote discovery and expand global medical knowledge. This Perspectives article documents the initial establishment and iterative co-design of the UDNI DWG.
罕见病被视为全球公共卫生的重点。及时准确的诊断是精准和个性化医疗保健的关键推动因素。然而，对于那些来自历史上服务不足社区的人，包括低收入和中等收入国家的人来说，罕见病诊断的障碍尤为严峻。国际未确诊疾病网络（UDNI）于2015年启动，旨在填补阻碍罕见病诊断的知识空白，并在患者积极参与的帮助下，促进研究成果转化为医疗实践。为了更好地实现这些目标，UDNI在2021年成立了UDNI诊断工作组（UDNI DWG），作为一个实践社区，其将（a）加快为更多家庭进行诊断；（b）通过开发未确诊疾病项目，特别是资源较少地区的项目，支持和分享知识与技能；（c）促进发现并扩展全球医学知识。这篇观点文章记录了UDNI DWG的初步建立和迭代式协同设计。
