Responsible sharing of data from families participating in the PAGE study is crucial to maximising our understanding of genetic conditions of early development that manifest during pregnancy, while protecting privacy and confidentiality. Therefore, anonymised PAGE study data will be shared with research and clinical communities as follows:
Variants in genes that are likely to cause or contribute to the observed fetal anomaly will be linked to anonymised records in the DECIPHER web portal hosted by the Wellcome Trust Sanger Institute and will become publicly accessible with associated clinical information, such as the nature of the fetal anomaly, once the clinical team has had sufficient time to inform the family.
For over 10 years, clinicians and researchers from around the world have used the DECIPHER web portal to improve their interpretation of genetic variants observed in their patients. Through DECIPHER, clinicians and researchers can contact the PAGE team to discuss potential follow-on research.
All genomic data from exome and genome sequencing (BAM files and VCF files) and clinical data files will be available through the European Genome-phenome Archive hosted by the European Bioinformatics Institute (EBI).
These anonymised data will only be made available to researchers investigating genetic conditions of early development that manifest during pregnancy who commit to protecting the confidentiality and privacy of research participants. Researchers requesting access to these anonymised data must apply by completing a data access form detailing their particular research aims; access will only be granted after approval by the PAGE data access committee.