Fresh tissue handling pathway for the 100,000 Genomes Project

The West Midlands Genomic Medicine Centre (WMGMC) is one of 13 created by NHS England to transform diagnosis and treatment for patients with cancer and rare diseases, and pave the way for personalised medicine. The WMGMC is a partnership of 16 NHS acute trusts across the West Midlands region working collaboratively to help deliver the nationwide 100,000 Genomes Project. The aim of the project is to create a new genomic medicine service for the NHS – improving the way patients are cared for. To date, four of the partner trusts in the WMGMC – University Hospitals Birmingham NHS Foundation Trust (UHB), The Royal Wolverhampton NHS Trust, University Hospitals Coventry and Warwickshire NHS Trust, and George Eliot NHS Trust – have adopted vacuum packing for the collection and transportation of surgical specimens from participants who have been recruited into the 100,000 Genomes Project. 

Challenges with formalin-fixed samples

The 100,000 Genomes Project has presented pathologists with many challenges, particularly around molecular diagnostics and whole-genome sequencing (WGS) in cancer. The project has highlighted the need to optimise and standardise tissue handling to ensure that high-quality sequencing is achieved, while retaining morphology for routine diagnosis.