How is your research/technology relevant to personalised medicine?

The 100,000 Genomes Project (100KGP) is the largest sequencing initiative in the world, sequencing 100,000 entire genomes from around 70,000 NHS patients with rare diseases and cancer. However, for whole genome sequencing (WGS) to improve the health of the nation, we need robust evidence on where it is most likely to be effective and cost-effective.  I am leading the Health Economics GeCip Domain for the 100KGP project where we are examining the costs of sequencing and downstream consequences of testing (such as the use of targeted drug therapies) and public health opportunities from any secondary findings.

What are the challenges to getting your research/technology into widespread use, and is that the aim?

Our challenges in assessing the economic impact of WGS include a lack of detailed information on technology costs (especially bioinformatics) and trying to link sequencing data to patient health outcomes (survival and quality of life) and longer term health service resource use.

What can be done to make the most of the opportunities for personalised medicine to improve health and healthcare?

There are massive opportunities for using WGS in health care, including improved disease diagnosis, placing patients onto treatments which they are more likely to respond to, and potentially using a technology which makes better use of limited health service funds.