Clinical Genome Sequencing

The Health Innovation Challenge Fund (HICF) programme of research aims to use whole genome sequencing (WGS) to improve diagnosis of genetic disease across multiple medical specialties, with concomitant improvements in patients’ clinical management.

It is widely recognised that WGS will be a revolutionary technology for clinical diagnostics in the near future, providing a fast and comprehensive diagnostic platform applicable to many areas of medicine. In order to achieve this, however, important challenges must be overcome, including provision of a robust clinical framework, sequencing workflow, bioinformatics and IT infrastructure that will allow the complex WGS data sets to be generated, managed and interpreted in a way that leads to clinically-actionable results.  The anticipated impact of adopting this technology in healthcare will be to greatly improve the accuracy and speed of diagnosing genetic conditions in a cost-effective manner, leading to improvements in patients’ treatment and outcomes.

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. The key goals of the programme will be to finds solutions to these issues and to demonstrate the clinical utility and cost-effectiveness of whole genome sequencing (WGS) for diagnosis of genetic disease, to build the informatics and governance infrastructure to allow clinical interpretation of the data and to identify novel disease genes. Our 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.

In this project we will carry out research on the following topics:

  1. data sharing in large databanks
  2. cloud vs server issues (confidentiality, access, private vs generic clouds)
  3. informed consent for research and clinical situations
  4. legalities of position re incidental findings and feedback/ disclosure  of information
  5. developing management pathways for the feedback of clinical findings from research into the clinic