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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.

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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