Sydney Medical School, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia.
Cerebral Palsy Alliance Research Institute, Specialty of Child & Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia.
Dev Med Child Neurol. 2022 Dec;64(12):1470-1476. doi: 10.1111/dmcn.15245. Epub 2022 Apr 20.
To define clinical common data elements (CDEs) and a mandatory minimum data set (MDS) for genomic studies of cerebral palsy (CP).
Candidate data elements were collated following a review of the literature and existing CDEs. An online, three-round Delphi survey was used to rate each data element as either 'core', 'recommended', 'exploratory', or 'not required'. Members of the International Cerebral Palsy Genomics Consortium (ICPGC) rated the core CDEs as either mandatory or not, to form the MDS. For both the CDEs and the MDS, a data element was considered to have reached consensus if more than 75% of respondents agreed.
Forty-six individuals from around the world formed the Delphi panel: consumers (n=2), scientists/researchers (n=17), medical (n=19), and allied health professionals (n=8). The CDEs include 107 data elements across six categories: demographics, diagnostics, family history, antenatal and neonatal details, clinical traits, and CP-specific assessments. Of these, 10 are mandatory, 42 core, 41 recommended, and 14 are exploratory.
The ICPGC CDEs provide a foundation for the standardization of phenotype data captured in CP genomic studies and will benefit international collaborations and pooling of data, particularly in rare conditions.
A set of 107 common data elements (CDEs) for genomics studies in cerebral palsy is provided. The CDEs include standard definitions and data values domains. The CDEs will facilitate international data sharing, collaboration, and improved clinical interpretation of findings.
定义脑瘫基因组研究的临床通用数据元素（CDE）和强制性最小数据集（MDS）。
在文献回顾和现有 CDE 的基础上，整理候选数据元素。采用在线三轮 Delphi 调查，对每个数据元素进行“核心”、“推荐”、“探索性”或“不需要”的评分。国际脑瘫基因组学联盟（ICPGC）的成员对核心 CDE 进行强制性或非强制性评分，形成 MDS。对于 CDE 和 MDS，如果超过 75%的受访者同意，则认为数据元素达成共识。
来自世界各地的 46 人组成了 Delphi 小组：消费者（n=2）、科学家/研究人员（n=17）、医学（n=19）和联合健康专业人员（n=8）。CDE 包括六个类别中的 107 个数据元素：人口统计学、诊断、家族史、产前和新生儿详细信息、临床特征和 CP 特定评估。其中 10 个是强制性的，42 个是核心的，41 个是推荐的，14 个是探索性的。
ICPGC CDE 为脑瘫基因组研究中捕获的表型数据标准化提供了基础，将有益于国际合作和数据共享，特别是在罕见疾病方面。
提供了一套 107 个脑瘫基因组研究的通用数据元素（CDE）。CDE 包括标准定义和数据值域。CDE 将促进国际数据共享、合作以及对研究结果的临床解释的改进。
