Next-generation diagnostics: pushing pathology boundaries at the molecular level

The Worshipful Company of Grocers, one of the oldest Livery companies in the City of London, was the auspicious setting for Viapath’s fourth Innovation Academy (IA) symposium, held in early December last year. The symposium gathered some of the most well-renowned and forward-thinking leaders in pathology, allowing them to share insights into their work. The day’s focus was next-generation diagnostics and featured talks on genomics, molecular and biomarkers technologies, metabolomics, mass spectrometry and next-generation sequencing – ground-breaking tools with which to push the boundaries of pathology.

100,000 Genomes Project
Writer, broadcaster and scientist Vivienne Parry opened the presentations. Vivienne is Head of Engagement at Genomics England, a Department of Health (DH) company set up to deliver the flagship 100,000 Genomes Project, which will sequence 100,000 whole genomes from NHS patients by 2017. Launched late in 2012, the project’s main aims are i) to create an ethical and transparent programme based on consent; to bring benefit to patients and establish an NHS genomic medicine service; ii) to drive new scientific discovery and medical insights and finally, to kick-start the development of the UK genomics industry.

Vivienne explained how the project is unique in its scope; a clinical service, research project and NHS transformation scheme all in one. The project is principally funded by the DH and its main phase began this year with 11 NHS Genomic Medicine Centres (GMCs) taking part. The South London NHS GMC, designated for both cancer and rare disease, is being led by Guy’s and St Thomas’ NHS Foundation Trust, and Viapath will be conducting some of the analytical tests. The first samples for sequencing are already being taken from patients living in England, and the potential future involvement of patients from Scotland, Wales and Northern Ireland is being discussed. The results will link phenotypic and medical record data with genome data; the initial focus being on patients with a rare disease and their families, and on cancer patients.