PARLIAMENTARY WRITTEN QUESTION
Hereditary Diseases (25 April 2018)

to ask the Secretary of State for Health and Social Care, what lessons have been learned from the 100,000 Genome Project which will help when deciding what genetic diseases should be screened for at birth.

Asked by:
Darren Jones (Labour)

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.

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.

Answered by:
Dame Caroline Dinenage (Conservative)
30 April 2018