Lord Freyberg – 2016 Parliamentary Question to the Department of Health

The below Parliamentary question was asked by Lord Freyberg on 2016-06-13.

To ask Her Majesty’s Government, further to the Written Answer by Lord Prior of Brampton on 4 February (HL5344), how many of the 1,286 genomes processed by 4 February came from (1) the rare disease programmes, and (2) elsewhere in the cancer programme; and how many of those genomes from (1) the rare disease programmes and (2) the cancer programme have now been interpreted clinically, either by GEL or the General Medical Council.

Lord Prior of Brampton

Genomics England (GeL) has confirmed that all 1,286 of the genomes quoted in my Written Answer of 4 February related to the cancer programme. GeL has also confirmed that at that time 5,102 rare disease genomes had been sequenced.

GeL is in the process of developing rare disease and cancer reports and is discussing these with clinical sites. Significant work has gone into building a pipeline to process genomic and clinical data at scale. This requires collection of complete datasets and a complex design process to minimise manual interaction with the process to improve accuracy.

The work on the pipeline is not planned to have been completed and thoroughly tested until later this year, but early results are already flowing through it and GeL has returned 39 reports to pilot sites. This number will increase steadily over the coming year as experience is gained.