University of Manchester and Manchester Royal Eye Hospital, Oxford Road, Manchester, M13 9WL, UK.
Orphanet, INSERM (Institut National de la Santé et de la Recherche Médicale), Paris, France.
Orphanet J Rare Dis. 2019 Jan 9;14(1):8. doi: 10.1186/s13023-018-0980-6.
The optical accessibility of the eye and technological advances in ophthalmic diagnostics have put ophthalmology at the forefront of data-driven medicine. The focus of this study is rare eye disorders, a group of conditions whose clinical heterogeneity and geographic dispersion make data-driven, evidence-based practice particularly challenging. Inter-institutional collaboration and information sharing is crucial but the lack of standardised terminology poses an important barrier. Ontologies are computational tools that include sets of vocabulary terms arranged in hierarchical structures. They can be used to provide robust terminology standards and to enhance data interoperability. Here, we discuss the development of the ophthalmology-related component of two well-established biomedical ontologies, the Human Phenotype Ontology (HPO; includes signs, symptoms and investigation findings) and the Orphanet Rare Disease Ontology (ORDO; includes rare disease nomenclature/nosology).
A variety of approaches were used including automated matching to existing resources and extensive manual curation. To achieve the latter, a study group including clinicians, patient representatives and ontology developers from 17 countries was formed. A broad range of terms was discussed and validated during a dedicated workshop attended by 60 members of the group.
A comprehensive, structured and well-defined set of terms has been agreed on including 1106 terms relating to ocular phenotypes (HPO) and 1202 terms relating to rare eye disease nomenclature (ORDO). These terms and their relevant annotations can be accessed in http://www.human-phenotype-ontology.org/ and http://www.orpha.net/ ; comments, corrections, suggestions and requests for new terms can be made through these websites. This is an ongoing, community-driven endeavour and both HPO and ORDO are regularly updated.
To our knowledge, this is the first effort of such scale to provide terminology standards for the rare eye disease community. We hope that this work will not only improve coding and standardise information exchange in clinical care and research, but also it will catalyse the transition to an evidence-based precision ophthalmology paradigm.
眼睛的光学可及性和眼科诊断技术的进步使眼科学处于数据驱动医学的前沿。本研究的重点是罕见眼病，这是一组疾病，其临床异质性和地理分散性使得基于数据的循证实践特别具有挑战性。机构间的合作和信息共享至关重要，但缺乏标准化术语是一个重要的障碍。本体是一种包含词汇术语集并按层次结构排列的计算工具。它们可用于提供强大的术语标准并增强数据互操作性。在这里，我们讨论了两个成熟的生物医学本体，即人类表型本体（HPO；包括体征、症状和检查结果）和孤儿眼病本体（ORDO；包括罕见病命名/分类学）的眼科相关部分的开发。
使用了多种方法，包括与现有资源的自动匹配和广泛的手动整理。为了实现后者，成立了一个包括来自 17 个国家的临床医生、患者代表和本体开发者在内的研究小组。在一个由 60 名小组成员参加的专门研讨会上，讨论并验证了广泛的术语。
已经达成了一个全面、结构化和定义明确的术语集，包括 1106 个与眼部表型（HPO）相关的术语和 1202 个与罕见眼病命名学（ORDO）相关的术语。这些术语及其相关注释可在 http://www.human-phenotype-ontology.org/ 和 http://www.orpha.net/ 中访问；可以通过这些网站提出评论、更正、建议和请求添加新术语。这是一项正在进行的、由社区驱动的工作，HPO 和 ORDO 都在定期更新。
据我们所知，这是首次如此大规模地为罕见眼病社区提供术语标准。我们希望这项工作不仅能提高编码并标准化临床护理和研究中的信息交换，而且还能促进向基于证据的精准眼科范式的转变。
