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Patient stories: Having no answer

Watch this video to learn more about why whole genome sequencing doesn't always provide a result.
So far we’ve had a negative result from the 100,000 Genome. Our understanding of why there is no result is science hasn’t caught up yet. Its basically they just haven’t been able to find the exact genetic cause, his condition is so rare that they don’t know about that particular gene yet. Not getting the result for Trent was frustrating and heartbreaking, we don’t have the sort of street map to know where we can get help or what we could be doing for Trent, there could be some sort of therapy or even medication that we could be giving him that could help him.
So not knowing why he is like he is is frustrating, it’s scary and also just for the future to know how he’s going to be as he gets older and also why he is like he is will that affect his brothers in terms of when they have children. As a family we were obviously devastated that we didn’t get a result, but we definitely remain positive. When we were referred to the 100,000 Genome we didn’t know what genome testing, what gene testing was, now that we’ve learnt that they do associated panels looking at specific genes based on the child.
So for example, Trent they looked at a learning disability panel and at the moment they haven’t been able to find anything, but that’s not to say as they’re learning more and going forward that they won’t find anything so we’re definitely positive and hopeful that in the future we will get something for Trent.

In this video, Claudia Beard, who we met in Week 1, explains the sobering reality of whole genome sequencing: that sometimes, despite the best efforts of clinicians and scientists, it doesn’t yield a result.

Claudia explains that:

  • science hasn’t caught up yet; there’s more to learn before Trent will receive a diagnosis as his condition is so rare;

  • not having a result is frustrating for the family and means that they are not able to plan for the future: for example they don’t know if other family members may be affected, or if there are treatments that could help Trent;

  • the 100,000 Genomes Project is currently looking at associated panels for each of its participants, and nothing has been found in those panels for Trent yet; however the family remains positive about finding a diagnosis for Trent in the future.

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Whole Genome Sequencing: Decoding the Language of Life and Health

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