A program to sequence 10,000 whole genomes of people with rare genetic diseases and their biological parents began in October in the UK. The Rare Diseases Genomes Project is a collaboration between sequencing instruments manufacturer Illumina, of San Diego, Cambridge University, UK, and Genomics England, a London-based company set up by the Department of Health in December 2012 with £100 ($164) million of government funding. The three-year initiative aims to uncover the genes underlying rare genetic diseases to improve diagnosis and treatment. It also serves as a pilot for an ambitious plan to sequence 100,000 genomes within the UK's National Health Service and ultimately introduce genome sequencing data into routine clinical practice. Patients will be recruited from specialist centers at university hospitals across the country. Genomics England has held public meetings to explain its program to patients and clinicians and has the endorsement of rare diseases patients' groups. Mark Palin, spokesman for Genomics England, says that within the limitations of small patient numbers, they hope to build cohorts. “The aim is for the program to have significant impact on understanding of specific rare diseases, but also to use this information to allow us to see how to move forward with the main program.” This will include developing information systems to allow clinicians to interpret the data and bring whole-genome sequencing to the bedside. Genomics England is not saying which, or how many, of the estimated 7,500 rare diseases will be covered in its arm of the project, in which 2,000 genomes will be sequenced.
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Moran, N. 10,000 rare-disease genomes sequenced. Nat Biotechnol 32, 7 (2014). https://doi.org/10.1038/nbt0114-7
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