Question to the Department of Health and Social Care:

To ask Her Majesty’s Government what estimate they have made of how many (1) definitive, and (2) actionable, diagnoses in rare diseases can be made on the existing rare disease sequencing budget of Genomic England in 2016; whether Genomic England used (a) whole genome sequencing, (b) whole exome sequencing, or (c) medical exome sequencing; and if those estimates are not available, why not.

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.