Completed Genetics & Molecular Biology Pregnancy, Children & Inherited Conditions

Translation of Whole Genome Sequencing into Clinical Practice

Funder NIHR (part of DHSC)
Recipient organisation University of Oxford
Funding £2.2M
Period Oct 2013 — Jun 2018

In plain English

AI plain-English summary

A single DNA test could replace the current slow, gene-by-gene hunt for the mutations that cause genetic diseases. Many patients with suspected genetic conditions remain undiagnosed even after every available test has been exhausted. The problem is partly technical: genes are still tested one at a time, a slow and costly process that misses the bigger picture. This project aims to work out how to use whole genome sequencing—reading a person’s entire DNA code in one go—as a routine diagnostic tool within the NHS. The goal is to catch far more genetic causes than current methods allow. If successful, the impact would be felt directly in medical diagnostics. Instead of months of sequential testing and uncertainty, a single genome scan could provide a diagnosis for many patients who currently have none. That changes clinical decisions, family counselling, and access to tailored treatments. The project also tackles the practical hurdles—data handling, NHS workflows, and social responsibility—that must be solved before such a test can be offered to every patient who needs it. The approach could set a benchmark for other countries rolling out genomic medicine.

View original technical description
Genetic diseases occur when changes in a particular gene (called mutations) disrupt its normal function. There are many diseases that are caused by mutations in an individual’s DNA sequence. However, our knowledge of the causative genes is often incomplete, and many patients remain undiagnosed even when all possible tests have been performed. Furthermore the testing process is slow since genes are often tested one at a time, for technical and economic reasons. This project aims to improve this situation, by working out how new DNA sequencing technology, which can test an individual’s whole DNA sequence at once, can be used for genetic testing in the NHS. This should lead to much higher rates of success in diagnosing genetic conditions. However, there are many technological hurdles to overcome in the collection and use of this ‘whole genome’ sequence data, and the way in which genetic testing is conducted in the NHS will need to adapt. Our goal will be to ensure that this new sequencing technology is rolled out in the NHS in a socially responsible manner so that any patient with a genetic disease can benefit, providing a benchmark for the NHS more widely, and other countries.

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