First diagnoses signal success of 100,000 Genomes Project

The first children to receive a genetic diagnosis through the 100,000 Genomes Project have been given their results at Great Ormond Street Hospital (GOSH), part of the North Thames NHS Genomic Medicine Centre.

Both Georgia Walburn-Green and Jessica Wright had rare, undiagnosed, genetic conditions when they joined the Project. Whole genome sequencing pinpointed the underlying genetic changes responsible for their conditions.

As well as removing a large amount of uncertainty for the families, the results stand to have a major impact on many areas of their lives including future treatment options, social support and family planning. They also have the potential to help many more children with undiagnosed conditions who may be tested for these genetic mutations early on and be offered a diagnosis to help manage their condition most effectively.

Professor Mark Caulfield, Chief Scientist at Genomics England said

“It is our aim to bring new diagnoses and, if possible, identify potential therapies for participants in the 100,000 Genomes Project. This is a pioneering project that will transform the application of genomics in our healthcare system.”

NHS Chief Scientific Officer Professor Sue Hill, OBE said

“This is an excellent example of how whole genome sequencing can finally provide the answers that families have been seeking out for years. These new insight sets them free to make decisions about the treatment options for their child and how they move forward with future plans for their family.

Read full, original post: First children receive diagnoses through 100,000 Genomes Project

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