Results from DDD

Q. When will we hear back about results?

A. We aim to feedback relevant research findings to clinical teams as fast as possible, but it may take many years to find a diagnosis. Your clinical geneticist or research nurse/ genetic counsellor will contact you if there are any results, as these will usually need to be validated within the NHS. The DDD team is committed to continuing to analyse the data people recruited to the DDD study and this may include pursuing whole genome sequencing for those patients who remain undiagnosed after exome sequencing. Therefore, it is possible you may receive a diagnosis from DDD up until 2030 when the study will close.

Q. What information will you feedback?

A. We aim to feedback only findings that are relevant to your child’s developmental disorder. We do not intend to feedback other findings (such as non-paternity, or susceptibility to other diseases) even if they may be clinically actionable.

Q. Will you tell us if you find something important in any of our family’s genomes which doesn’t relate to our child’s developmental disorder?

A. We analyse the data specifically only looking for genetic changes that are likely to explain your child’s developmental disorder. We filter the data extensively to remove as many other changes as possible, and we won’t be searching for alterations associated with any other conditions (which are often termed ‘secondary findings’).

Samples

Q. Will I have to give another sample in future?

A. Maybe. Because of the stringent quality control processes we use, some of the samples provided may not be appropriate for all our tests. If this is the case, we will let your clinical team know that we need another sample from your child. Also, because the tests are being done at a research institute, all the results will have to be checked in an NHS lab and you may need to give another sample for these validation tests.

Q. Where are samples stored?

A. Your samples are stored securely in locked cupboards and/or freezers in restricted-access rooms on the Wellcome Sanger site and will only be used for research into understanding the causes of developmental disorders.  All samples will be destroyed at the end of the study (by October 2030).

Information about DDD and Other Studies

Q. How do I find out more about DDD?

A. Please read everything on http://www.ddduk.org/ for information about the study, and speak to your geneticist or genetic counsellor if you have any questions. You can also contact Unique (Rare Chromosomal Disorder Group; info@rarecromo.org) with any questions.

Q. Can I participate in the DDD study?

A. Recruitment to the DDD study closed in 2015. Genome sequencing is now available for eligible patients through the NHS Genome Medicine If your child has an undiagnosed developmental disorder please speak with your paediatrician or GP.

Q. How do I withdraw my family from the DDD study?

A. If your family wishes to withdraw, please contact the referring clinician or the genetics centre that recruited you into the DDD study. They will be able to initiate the withdrawal process. Once we receive confirmation from them, the team will proceed with the necessary steps.

End of FAQs

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