The NHS – the first national health care system to offer whole genome sequencing as part of routine care – is well placed to lead the next phase of the genomic revolution in healthcare – using our knowledge of the genome to improve diagnosis of rare and common diseases, predict which patients are most at risk and deliver more personalised treatments.
Oxford scientists have a great track record of driving the clinical translation of whole genome sequencing (WGS), playing a key role in the 100,000 Genomes Project, which continues to deliver new insights into rare diseases.
Genomics story: Ancient gene mutation found to cause rare hereditary condition
Our work in this theme is geared towards translating genomic science into changes in clinical practice and therapeutics and real improvements for patients.
When we have all the information on people’s whole genome and can interpret specific genetic variants and understanding what their function is, it gives us the ability not only to improve diagnosis for rare diseases, but also to predict the risks associated with more common conditions.
Sub-theme 1: Variant to Function to Diagnosis and Therapy
Our sub-theme 1 – Variant to function to diagnosis and therapy – is focused on looking for rare genetic variants, supported by machine learning, so we can give patients diagnoses and carry out trials to develop possible treatments – including gene editing and new drugs.
To get a more in-depth multi-layered understanding of patients and their illness, we are not just looking at the genome, but adopting a multi-omic-type approach, which moves beyond the DNA sequence to investigating proteins and RNA transcripts, and understanding how the genome is put together and regulated.
Sub-theme 2: Predictive and personalised medicine
Our sub-theme 2 – Predictive and personalised medicine – is looking at how the incremental effects of many different genes can inform a person’s risk of developing common diseases and allow more targeted therapies.
But understanding the link between genetic variants and disease is only half the battle. We must then study how feasible it is to introduce this information into the NHS and routine clinical work. This will involve talking to our involved patient groups about what is acceptable and ethical, and health economists about cost-effectiveness.
Sub-theme 3: Bridging and enabling translation
Our sub-theme 3 – Bridging and enabling translation – will look at precisely this – how our discoveries can be best deployed and how to develop and apply best practice for how to use genomic information.
Our work in this theme is strengthened by our involvement in the Genomics England (GEL) Clinical Interpretation Partnerships and the Genome Medicine Service Alliance (GMSA), which supports implementation in clinical care pathways and promote the involvement of under-represented groups and local investigators across the Central and South region.
BRC funding will support the career development of early-stage researchers, as well as promoting new cross-disciplinary translational research that builds on established partnerships between Oxford University and the NHS and feeds into the new NHS Genomic Medicine Service.