Lord Freyberg – 2016 Parliamentary Question to the Department of Health
The below Parliamentary question was asked by Lord Freyberg on 2016-01-21.
To ask Her Majesty’s Government how many (1) definitive, and (2) actionable, diagnoses are made for every 1,000 genomes sequenced as part of the rare disease arm of 100,000 Genomes Project; and how many diagnoses they estimate would have been made if the Project were run using (1) whole, and (2) medical, exome technology; and if those estimates are not available, why not.
Lord Prior of Brampton
The 100,000 Genomes Project is not intended to provide definitive or actionable findings from whole genome sequencing. This is the responsibility of the National Health Service Genomic Medicine Centres based on interpretation reports provided by Genomics England. To date approximately 20 reports have been issued based on the initial interpretation of the pilot phase genome data. It is not possible to estimate the comparison between whole genome and exome methods for these patients. That is because the eligibility criteria for patients to be invited to participate in the 100,000 Genomes Project require that they remain undiagnosed after standard NHS diagnostic tests.
