TY - JOUR
T1 - Common data elements to standardize genomics studies in cerebral palsy
AU - ICPGC Phenotype Working Group
AU - Wilson, Yana A.
AU - Smithers-Sheedy, Hayley
AU - Ostojic, Katarina
AU - Waight, Emma
AU - Kruer, Michael C.
AU - Fahey, Michael C.
AU - Baynam, Gareth
AU - Gécz, Jozef
AU - Badawi, Nadia
AU - McIntyre, Sarah
PY - 2022/12
Y1 - 2022/12
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85133941148&partnerID=8YFLogxK
U2 - 10.1111/dmcn.15245
DO - 10.1111/dmcn.15245
M3 - Article
C2 - 35441707
AN - SCOPUS:85133941148
SN - 0012-1622
VL - 64
SP - 1470
EP - 1476
JO - Developmental Medicine and Child Neurology
JF - Developmental Medicine and Child Neurology
IS - 12
ER -