Theme Lead: Professor Phil Beales
By combining advances in genomic analysis with an investment in bioinformatics we will aid discovery of the underlying genetic causes of rare childhood diseases and help develop personalised medicine for the NHS.
In recent years, ‘genetics and genomics’ has undergone a technological revolution and it is now possible to sequence the whole genome in a matter of days. We will harness developments in genomic medicine for the benefit of NHS patients, for example to aid diagnosis of intensive care patients or during pregnancy. The results from rapid genome sequencing of patient samples will also influence real-time clinical decisions, which will have an enormous impact for staff and families.
We will also build on our pioneering work developing a new non-invasive approach for diagnosing genetic diseases in unborn children. This method uses a sample of the mother's blood and therefore carries fewer risks to pregnancy than traditional invasive techniques such as amniocentesis. Over the next five year term this approach will be expanded and used to diagnose a larger number of genetic conditions.
We will also be investing in our bioinformatics infrastructure and collaborating with other health informatics organisations allowing us to maximise the impact of genomic technologies.