Genomic Medicine — Introduction
The specific objectives of the Genomic Medicine theme are:
- the application of next-generation sequencing (NGS) technologies to the discovery of novel disease genes
- the evaluation and development of emerging sequencing technologies for rapid translation into the clinic through assessment of clinical utility, ethical and legal feasibility, evaluation of patient benefit, and cost-effectiveness, resulting in new NHS genetics services
Next-generation sequencing methods allow simultaneous testing of multiple genes at a comparable expense to the established pathway of sequential gene-by-gene testing. This has the potential for significant savings in resources, and most importantly for patients, time. For gene discovery, large-scale sequencing of this type is unparalleled in its capacity to identify novel causative genes for rare genetic diseases. To ensure that patients benefit from such discoveries we aim to develop novel genetic tests that can be used in routine clinical practice.
Our experience has shown that successful translation of genetics research into clinical practice requires a truly multidisciplinary approach. We work closely with the other BRC Themes and our programme is broad in scope and highly collaborative, involving not only research scientists and clinicians, but also health economists, commissioners and stakeholders, patient groups, and ethicists.
The Genomic Medicine Theme is based at the Wellcome Trust Centre for Human Genetics, where it has dedicated sequencing instruments and personnel. The combination of world class genetics research and academic excellence in close proximity to diagnostic laboratories and hospitals with access to patient material and clinical expertise provides a unique setting for translational genetics research in the UK.
The activities of the Genomic Medicine Theme are divided into three sub-themes: