Genetics Theme
Wellcome Trust Centre for
Human GeneticsThe Oxford BRC’s Genetics Theme provides infrastructure (platforms and expertise) to support translational research projects for the Oxford BRC and conducts its own translational research programme to generate new NHS-based genetics services.
The BRC has invested in next generation sequencing and has dedicated sequencing instruments and personnel based at the Wellcome Trust Centre for Human Genetics. Sequencing projects aim to evaluate the feasibility of next generation sequencing platforms for a range of clinical applications, including sudden cardiac death syndromes, neurodegenerative conditions, pathogen surveillance and cancer.
A second major technology focus is use of array-based methods to assess copy number variation. Projects are currently underway in congenital heart disease, chronic lymphocytic leukaemia, brain malformations, speech and language disorders and pre-implantation genetic diagnosis.
Increasingly molecular genetic characterisation of tissues is required. This is particularly true of cancer where somatic mutations may be important determinants of a tumour’s behaviour and information about these may influence a patient’s diagnosis and prognosis. To this end we are working to integrate state-of-the-art genetics and pathology techniques and resources.
A successful translational research programme will result in novel molecular diagnostic tests and technologies for the NHS. Central to our strategy is the assembly of multi-disciplinary teams comprising clinicians from a range of medical specialties and members of the diagnostic laboratories of the Oxford University Hospitals NHS Trust in particular from the Regional Genetics, Pathology and Haematology services.
Additional considerations for successful translation are timely engagement with commissioners and policy makers to secure funding for new NHS tests and technologies; working with patient groups and the public to evaluate patient benefit and allow patient participation in our research; collaborating with ethicists to explore any ethical implications of our programmes and conducting health economics research to evaluate the cost-effectiveness of the novel tests. With this multi-faceted approach our goal is to deliver a range of translational outcomes that can be realised in the NHS, in addition to novel research findings.
