Question to the Department of Health and Social Care:
To ask the Secretary of State for Health, whether the 100,000 Genomes project will be able to diagnose patients with a ring chromosome.
The 100,000 Genomes Project could potentially diagnose participants with a ring chromosome through whole genome sequencing. The close working between NHS Genomic Medicine Centres and Genomics England means that ring chromosomes will continue to be detected primarily through routine diagnostic care. The 100,000 Genomes Project will give important information on the effective use of genomic technologies to bring benefit to National Health Service patients.