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<p>The 100,000 Genomes Project is focussed on recruiting patients, including children,
with rare diseases (and their family members) and those with common cancers. These
are areas where whole genome sequencing may offer the best opportunity to diagnose
disease. From the Project’s pilot phase we have found actionable findings in 20-25%
of rare disease patients.</p><p> </p><p>The scope of the project does not include
screening at birth. The Chief Medical Officer, in her annual report Generation Genome,
recommended that that the National Screening Committee conducts a systematic evaluation
of the opportunities offered by genomics for present and potential screening practices.</p>
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