100,000 Genomes Project

Human Genome by Tom Purcell

Human Genome by Tom Purcell

The February talk will be given by Dr Catherine Mercer (Consultant Clinical Geneticist, University Hospital Southampton) and Dr Frank Ratcliff (Wessex Academic Health Science Network) who will be talking about their work on the 100,000 Genomes Project.

Poster for Dr Mercer and Dr Ratcliff

Poster for Dr Mercer and Dr Ratcliff

The 100,000 Genomes Project will sequence 100,000 genomes from around 70,000 people. Participants are NHS patients with a rare disease, plus their families, and patients with cancer.  Significantly, this is currently the largest national sequencing project of its kind in the world.

The aim is to create a new Genomic Medicine service for the NHS, transforming the way people are cared for. As a result of the project, genetic diagnoses will be made for some patients where this hadn’t previously been possible.  In time, there is also the potential for new and more effective treatments for diseases with a genetic basis.

The project will also enable new medical research. Combining genomic sequence data with medical records is a ground-breaking resource. Researchers will study how best to use genomics in healthcare and how best to interpret the data to help patients.  Using the 100,000 Genomes Project as a foundation, the aim is also to realise the potential of the UK genomics industry.  This talk will explore the project, and ask the question; “Would you have your genome sequenced?”