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Genetic diseases occur when changes in a particular gene (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.  Also, the testing process is slow as genes are usually tested one at a time until the gene with a problem is identified. Fortunately, there is now the scientific ability to test an individual’s entire genome, which means exploring many genes simultaneously. This so called whole-genome sequencing is largely being undertaken within research settings, but could have major implications for patient care if it were to be adopted into the NHS.

HERC is involved in analysing the economic implications in several studies in the area of genomic technologies. These studies span numerous disease areas including cancers, cardiovascular disease and infectious diseases within hospitals and use a range of health economics tools, especially micro-costing, modelling and discrete choice experiments.

The Studies

Next Generation Sequencing Analysis: A Clinical Study to Implement An Innovative Cancer Care Model In the UK, with Health and Economic Benefits.

Translation of Whole Genome Sequencing into Clinical Practice.

Implementation of microbial whole-genome sequencing for individual patient care, local outbreak recognition and national surveillance.

Development and application of a targeted array test to diagnose and direct therapy in haematological cancers.