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 what success Genomic England has had in engaging the NHS with (1) the number of informed consents captured by each of the 13 Genomic Medical Centres (GMCs), (2) the number of samples supplied by each of the 13 GMCs to Genomic England, (3) the number of usable samples received from each of the 13 GMCs by Genomic England, (4) the number of Binary Alignment Map files generated to date for each of the 13 GMCs, (5) the number of variant files (VCF) generated to date for each of the 13 GMCs, and (6) the number of clinical reports returned to patients for each of the 13 GMCs, in (a) the rare disease and (b) the cancer programme.

Lord Prior of Brampton

Genomics England (GeL) and NHS England have confirmed that:

The total number of informed consents as reported by NHS Genomic Medicine Centres (GMCs) is 9,939. The breakdown by NHS GMC can be found in the table below.

The total number of samples sent to the United Kingdom biobank from NHS GMCs is 6,777. The breakdown by GMC can be found in the table below.

Over 99% of samples have passed quality control first time in the biorepository, and the others are being followed up with NHS GMCs directly to obtain replacement samples.

In terms of the number of Binary Alignment Map files generated to date, GeL does not break its figures down in this way. It has confirmed that the number of completed Whole Genome Sequences (WGS) is 10,079 consisting of 8,408 rare disease and 1,671 cancer.

In terms of the number of variant files generated to date, GeL does not break its figures down in this way. It has confirmed that the number of completed WGS is 10,079 consisting of 8,408 rare disease and 1,671 cancer. GeL is in the process of developing rare disease and cancer reports and is discussing these with clinical sites. GeL has returned 39 reports to pilot sites and expects the number of reports to increase steadily over the coming year.