Accessing DDD data
The DDD study has a responsibility to all participants to maintain the confidentiality of their data and to maximise the opportunities for diagnosis. We are pioneering the use of new, high-throughput genetic technologies to find likely diagnostic genetic variants in people affected by severe developmental disorders, and developing robust systems to return individual variant results to patients and their families via their local NHS clinical teams. Larger genome-wide datasets are also available to bona fide researchers to continue to improve our understanding of developmental disorders.
We have evaluated whether we might also be able to share individual genome-wide datasets with individual participants, and concluded that to do so safely and responsibly would require considerable additional human and financial resources. In addition, we do not currently have the governance authority to share data with participants directly. The DDD team is continuing to focus its energy and resources on using innovative strategies to find diagnoses for as many participants as possible.
Likely diagnostic variants
Variants in known genes that are likely to cause or contribute to a specific child's developmental disorder will be linked to individual patient records in DECIPHER and will become publicly accessible with HPO phenotype terms once the clinical team has had sufficient time to inform the family. Logged-in members of DECIPHER can access contact details for the individual referring clinicians to discuss follow-on research.
Plausibly pathogenic variants of unknown significance
Plausibly pathogenic variants in unknown genes that might cause developmental disorders will be deposited in a public DDD research track in DECIPHER, with a high-level summary of clinical data, but will not be visible within individual patient records. These include confirmed functional de novo mutations, and recessively inherited rare loss-of-function variants. Researchers or clinicians with an interest in a particular gene or variant can contact email@example.com directly to initiate follow-on research through the relevant clinician.
All genomic data from microarray and exome sequencing (BAM files, VCF files and clinical data files) with HPO phenotype terms will be available through the European Genome-phenome Archive hosted by the EBI (Study ID EGAS00001000775).
Extended clinical data
Extended clinical data and photographs will not be available to researchers outside of the DDD collaboration without specific consent from the family.
Papers using DDD data should include either of the following acknowledgements:
For papers where 'The DDD Study' is not an author:
The DDD study presents independent research commissioned by the Health Innovation Challenge Fund [grant number HICF-1009-003]. This study makes use of DECIPHER (http://www.deciphergenomics.org), which is funded by Wellcome. See Nature PMID: 25533962 or www.ddduk.org/access.html for full acknowledgement.
For papers that include 'The DDD Study' as an author:
The DDD study presents independent research commissioned by the Health Innovation Challenge Fund [grant number HICF-1009-003], a parallel funding partnership between Wellcome and the Department of Health, and the Wellcome Sanger Institute [grant number WT098051]. The views expressed in this publication are those of the author(s) and not necessarily those of Wellcome or the Department of Health. The study has UK Research Ethics Committee approval (10/H0305/83, granted by the Cambridge South REC, and GEN/284/12 granted by the Republic of Ireland REC). The research team acknowledges the support of the National Institute for Health Research, through the Comprehensive Clinical Research Network. This study makes use of DECIPHER (https://www.deciphergenomics.org), which is funded by Wellcome.