Collaborative thinkers

Professor Karen Temple, medical geneticist

It was an immensely proud moment for me when UHS was named as one of the 11 designated Genomic Medicine Centres in the country in 2014. This project has the potential to transform the future of healthcare so we were delighted that becoming a designated centre meant that many of our patients from across the south could be involved and benefit from it.

By studying the samples of tissue from tumours and blood tests, we can perform gene sequencing, which will help our clinicians to refine diagnosis and potentially treat with greater precision. It also means that we'll be able to provide conclusive diagnoses for rare inherited diseases. In the past we usually couldn't find the gene mutation causing a disease because there was so much DNA to look through. New techniques have made this possible and less costly.

Since 2014, we have consented many families and over 1,000 samples have been sent to the genome sequencing centre in Cambridge. Results are now starting to come back. We are currently confirming the findings in our local NHS lab and getting back to families for the first time. We have never been able to sequence a whole genome before and we still don't know how to interpret all the genetic variation. Some gene changes affect health and others don't. Testing 100,000 genomes as part of this national project will start to answer some of the questions. This project is helping us understand what we need to have in place to run a genome service in the NHS.

It has shown how important it is to have health professionals who understand how to use genome tests as a useful investigation. The Southampton Genome Medicine masters course is now in its second year and going very well. It is so important that we have a new generation of genomics fluent health professionals working locally. 

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