Genome sequencing heralds new era in medical diagnostics

The University of Oxford and Illumina, a leading manufacturer of sequencing systems have announced a project that will push the boundaries of genome research into more generalised medical practice as the genomes of 500 people with a range of diseases – including cancer, immunological disorders, and rare inherited diseases – are to be sequenced in full detail. The results could have potential for offering diagnosis and treatment outcomes for
individual patients in the future.

“It is a really exciting opportunity to explore the potential for moving next-generation sequencing into the clinic,” said
Professor Peter Donnelly, Director of the Wellcome Trust Centre for Human Genetics at the University of Oxford. “Overall, we will study over a hundred different conditions – we want to cast the net as wide as possible in order to learn the areas in which sequencing can make a real impact.

“The initiative represents a crucial step as we move towards a new healthcare paradigm in which genetic information from next-generation sequencing is likely to become much more widely used in routine medical practice. It is a very large study by any standards,” Dr Donnelly added. The project will focus on conditions involving mutations that would be difficult or impossible to discover by standard genetic tests.,”

“This collaboration represents a remarkable and very important step toward using whole-genome sequencing for translational medicine – where a patient’s individual genetic information can be used to make key healthcare decisions,” said David Bentley, Vice President and Chief Scientist at Illumina. “We are excited to be working with Oxford on this effort. This collaboration also will help Illumina advance its technology to better meet the specific needs of clinical environments.”

The collaboration will see 400 genomes sequenced at the Wellcome Trust Centre for Human Genetics in Oxford using
Illumina systems. The other 100 genomes will be sequenced at Illumina’s UK site in Chesterford, Essex.