100,000 Genomes Project

The WISH lab is part of a £300 million national initiative to study the genomes (the entire genetic make-up) of people with cancer and rare diseases, and their family members. In hosting the Wessex Genomic Medicine centre, WISH is helping accelerate research in these disease and delivering a new genomic medicine service for the NHS and its patients.

Driving better diagnoses and personalised care 

The 100,000 Genome Project aims to identify the underlying genetic causes of rare diseases and cancer by comparing complete sets of DNA, or genomes, from 100,000 NHS patients and their family members. Southampton leads the Wessex NHS Genome Medicine Centre (GMC), one of 11 centres delivering the project, with the WISH lab playing a crucial role in the analysis.

This project has the potential to transform the future of healthcare, and will mean more patients can receive a conclusive diagnosis for a rare, inherited disease that was not possible before. 

Delivering the project

We work with specialist clinical teams across the hospital and patient groups to identify those who could benefit from genome sequencing. This is mainly those who's disorder runs through their family, or there is evidence indicating that changes to genes are a risk factor for their condition.

Identifying the exact changes to the DNA allows sorting of conditions and cancers into very specific types, which can then be targeted with different treatments (stratified medicine).

With patients' agreement, samples of tissue from tumours and bloods tests are collected during treatment at hospitals from the Wessex region, which incorporates Hampshire, the Isle of Wight, Dorset, Wiltshire and parts of Sussex, Surrey and Somerset.

National sequencing centre

The samples are sent securely to a centre run by Genomics England, a wholly government-owned company overseeing the project, for the whole genomes to be sequenced and analysed by gene sequencing specialists Illumina.

Southampton clinicians are then able to use the results to make diagnostic and treatment decisions, while approved Southampton researchers can access an anonymised version of the data to inform new treatments and care.