By Julie Nixon
The 100,000 Genomes Project is aiming to revolutionise medicine and place the UK as a world leader in genetic research. But while the prospect of allowing biomedical companies access to the data generated from the project could bring major health advances and economic impact, there is a potential risk that patients may be identified from the data they provide by participating in the project.
The Human Genome Project, completed in 2003, took a decade of work and £1 billion in funding to sequence one genome. However advances in technology means that it now costs less than £1000 to sequence a genome in 2 days.
Genomics England is a company owned by the UK Department of Health established to conduct the four-year 100,000 Genomes Project, the collection and sequencing of 100,000 individuals’ genetic information. In addition to the delivery of the 100,000 Genomes Project, it is hoped that Genomics England will initiate a UK genomics industry and the start of a personalised medical service, allowing patients to be treated with the most effective drugs in relation to their genetic background. The project is initially focusing on patients with rare diseases and patients with some common types of cancer.
The genome of a cell undergoes significant changes on the way to becoming cancerous. As part of the project cancer patients will have their healthy tissue compared with their diseased tissue so that genomic changes can be identified. Patients with rare genetic diseases will have their genomes compared with that of two close family members to pinpoint differences in the genomes that could account for the disease phenotype.
To participate in the scheme patients must first agree to their genomic data and medical records potentially being used by drug companies and researchers. Clinical information and genomic data files from the 100,000 Genome Project to which researchers and industry members will have access to is supposed to be anonymised, so alleviating any potential ethical issues associated with the project.
However the Department of Health has admitted that data made available to third parties would not be anonymised but rather “pseudonymised”. Pseudonymised data made available to third parties includes clinical data relating to an individual’s medical history, age and geographical location. This information combined with other data sets available online might lead to the identification of those participating in the 100,000 Genome Project. So it is essential that participants in the project are adequately informed of what use might be made of their data, and also the advantages that could be derived from making their data available for exploitation by industry.
Of course genomic data is very useful to biomedical companies and it is likely that important patentable inventions and database rights will arise from the project. The data could provide the opportunity to optimise drug development by implementing a stratified approach rather than a “one size fits all” model, and establishing new uses for existing and unused drugs. Also new biomarkers might be identified that could be used to develop advanced cancer diagnostic tests. In light of the Myriad decision, new biomarkers of disease may be patentable if the cDNA from the DNA sequence responsible for a disease is isolated. Genomics England has just announced that GlaxoSmithKline, AstraZeneca, Roche and GSK are among the ten companies forming the Genomics Expert Network for Enterprises (GENE) consortium, which will carry out a one-year industry trial looking at ways to use genomic data generated from the project.
For the project to be a success commercial drivers have to be balanced against any privacy concerns that the general public may have, with a clear need for transparency on the part of Genomics England. However the first results from the project have been announced, with one patient (whose identity was reported to the media) describing how the discovery of a genetic variant causing his condition meant that other members of his family could be checked for the mutation, and their condition monitored. For those taking part in the project the driver is clearly to help future generations in the long term.