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.
A research group headed by Dr Jenny Taylor at University of Oxford is aiming 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. Their 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.