UK’s Progress in Genomic Research

George Freeman MP, Parliamentary Under Secretary of State for Life Sciences, UK Department of Health www.gov.uk.government told the attendees at the Health Datapalooza 2015 www.healthpalooza.org Conference held in Washington D.C. that to prevent disease and reduce big health gaps, we have to unleash the power of technology.

He discussed the formation of Genomics England www.genomics.england.co.uk a company owned by the U.K Department of Health created to conduct the four year “100,000 Genomes Project” using National Health Service (NHS) data to do genome sequencing. According to Freeman, “The capture of the data will drive precision medicine forward and be able to unlock the full power of data.”

The 100,000 Genomics Project is at the cutting edge of science. So far no one has ever attempted whole genome sequencing at this scale before or tried to establish it as part of everyday medical care in hospitals.

Last March, the ten companies came together as part of the “100,000 Genomes Project” to create the Genomics Expert Network for Enterprises (GENE) Consortium to oversee a year-long industry trial. The trial will identify the most effective and secure way to bring industry expertise into the 100,000 Genomes Project.

According to Mark Caulfield, Chief Scientist for Genomics England, the partnership with ten companies has brought over 4000 UK clinicians and scientists as well as over 500 international collaborators together.

The companies involved include AbbVie www.abbvie.com, Alexion Pharmaceuticals www.alxn.com, AstraZeneca  www.astrazeneca.com, Biogen www.biogen.com, Dimension Therapeutics http://dimrndionyc.vom, GSK www.gsk.com, Helomics www.helomics.com, Roche www.rocke.com, Takeda www.takeda.com, and UCB www.ucb.usa.com which is still subject to contract negotiations.

The domains to be researched in the “100,000 Genomes Project” includes rare diseases, cancers, functional effects on gene expression, proteins, life-long DNA changes, EHR research, ethics, law, social science, health economics, and validation and feedback.

So far, the “100,000 Genomes Project now has eleven Genomic Medicine Centers (GMC) and has just recruited the first patients. Over 5,000 participants have already agreed to take part in the project as part of the pilot programs which will include 3,500 in rare diseases and almost 2,000 in cancer.

Sequencing from the pilot project is well underway and the program is learning how to best analyze samples donated by cancer patients. The GMCs will have to run rigorous tests to ensure that all data and sample logistics run smoothly before any patient samples can be put through the process.

All of the eleven GMCs have started the process and over half are now recruiting their first patients. So far, the program expects to have 5,000 whole genome sequenced by the end of August 2015 and expects that all of the GMCs will be running at full scale for rare diseases by the fall.