This project is government-funded and aims to make new discoveries using genomics (studying the full DNA content of human cells) that will aid the diagnosis and treatment of cancer and rare diseases.
These “100,000 Genomes” will come from 50,000 patients, from approximately 250 NHS Trusts.
What is pathology?
Traditionally, cancer pathology involves examining tissue biopsies – samples taken from patients to diagnose or monitor disease - under the microscope.
Molecular pathology – including histopathology and genomics – can give us more information through studying not just the organisation of tissues, but what’s going on inside cells, from DNA to RNA to protein.
A major challenge is making sure tissue sample quality is high - this is important to be able to look at genetics and not just morphology and/or proteins.
Originally pathologists only aimed to preserve morphology but basic preservation and damage prevention (or fixing) methods damage DNA. Keeping both 'safe' is more difficult.
Therefore we need to ensure more clinics are equipped to collect and store tissues adequately for processing.
Revolutionising pathology in the NHS
Prof Jones hopes that, through working with Genomics England, she and colleagues can transform NHS Pathology. Molecular pathology needs to be more widely available as currently not all hospitals can use techniques that look deeper than tissue morphology.
Genomic analysis can be integrated into pathology if we can improve infrastructure and processes.
In UK pathology, the process often looks like:
- Surgery and biopsy
- Fix the specimen in formalin (which is often left for too long)
- Send the specimen to a pathology lab, which could be - and often is - in another hospital
- Tissue is not fixed properly and therefore isn’t suitable for the full set of pathology techniques
Ideally a pathologist would be present to hand-cut and select tissue samples, but this usually isn't possible. So, how do we bridge the gap with minimal resources?
This is both a problem because we have too few pathologists and the type of education they receive is not up to date with our knowledge and requirements; to address this, Prof Jones is working with Health Education England and the Royal College of Pathologists to "upskill" molecular pathologists.
Professor Jones said,
"Here at Barts we are developing innovative ways of handling tissues to 'freeze' them in time, ready for molecular pathology analysis.
"I believe we can be world-leading; we have received interest from other centres already”
We will follow this project and changes to processes in the NHS - and globally- that will transform pathology.