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Common data elements to standardize genomics studies in cerebral palsy

Wilson, Y.A., Smithers‐Sheedy, H., Ostojic, K., Waight, E., Kruer, M.C., Fahey, M.C., Baynam, G., Gecz, J., Badawi, N. and McIntyre, S. (2022) Common data elements to standardize genomics studies in cerebral palsy. Developmental Medicine & Child Neurology . Early View.

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Abstract

Aim

To define clinical common data elements (CDEs) and a mandatory minimum data set (MDS) for genomic studies of cerebral palsy (CP).

Method

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.

Results

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.

Interpretation

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.

Item Type: Journal Article
Murdoch Affiliation(s): Institute for Immunology and Infectious Diseases
Publisher: Wiley-Blackwell
Copyright: John Wiley & Sons Ltd on behalf of Mac Keith Press.
URI: http://researchrepository.murdoch.edu.au/id/eprint/64585
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