The London-based laboratory introduces new techniques that allow doctors to discover the gene alterations which drive cancer and to deliver these as diagnostic tests. This will allow doctors to better decide what treatment is most appropriate. This approach, called 'precision or personalised medicine', is of particular interest in difficult cases where standard therapies are not working or not defined.
The laboratory introduces a new method, developed by UCL scientists, for the detection of mutations in a large number of genes in a single test. The test also uses the same samples as existing pathology tests rather than requiring fresh tissue. These innovations combine to make genetic profiling considerably cheaper and more practical to carry out by health services than other techniques developed to date.
Set up by Sarah Cannon, the cancer arm of HCA International, and UCL-Advanced Diagnostic (UCL-AD), part of the UCL Cancer Institute, the genetic profiling laboratory will benefit both NHS and private patients across the UK.
Professor Chris Boshoff, a Medical Oncologist and the Director of the UCL Cancer Institute, said:
"This new laboratory provides the opportunity for molecular profiling of patient's tumours to become a routine part of the diagnosis of their cancer, which is hugely significant for all cancer patients. In the first instance, patients will be able to have their tumour sample tested for mutations in a panel of gene tests where there is a known specialised treatment in the clinic or where a clinical trial is underway. The number of mutations we test using state-of-the art cancer deep sequencing technologies will grow rapidly as we continue to monitor the rapid developments in this field to ensure, where possible, all relevant mutations are included in a single test. The opportunity to expand the panel of genes that are tested to include genes of interest in future clinical research presents an exciting opportunity to exploit the scientific strengths and expertise of UCL and Sarah Cannon Research Institute in conducting clinical trials."
Dr Skip Burris, a Medical Oncologist and Chief Medical Officer of Sarah Cannon said:
"We have known for some time that breast cancer, is not just one disease, but that there are various subsets which respond to different treatments. It is now becoming clear that the genetic make-up of the tumour is the critical factor in choosing the right therapy for the right patient at the right time. A growing number of targeted therapies are in the clinic, and most anti-cancer agents being evaluated in trials are designed for specific molecular alterations. It is increasingly important for the doctor to have access to the genetic profile of the patient's tumour to select the best therapy. This vital information will spare the patient the side effects of an ineffective therapy as well as reducing the costs from inappropriate treatment. This new laboratory provides an important service to doctors and patients by bringing molecular testing into mainstream clinical care."
The new test represents a significant advance on current techniques for identifying the mutations in genes that contribute to cancer growth and progression. Currently, most mutational tests are conducted on single genes, a relatively slow and labour intensive process, particularly when several genes need to be tested. In addition, the use of individual tests for each genetic mutation requires much more tumour tissue, which presents significant difficulties when access to tumour material may be severely limited. Patients may be reluctant to undergo an additional biopsy to obtain more tumour tissue for testing.
Some other laboratories do conduct tests on large numbers of genes at once, but the process has so far been expensive to carry out. The result has been that many patients in the NHS only receive single gene tests, which can significantly delay the identification of the best drug with which to treat their disease. Given issues of tumour tissue limitations, there may simply not be sufficient tissue to conduct multiple single gene tests meaning the most suitable drug may never be identified. Doctors say the test used at the new laboratory will alter this situation and allow many more patients to gain access to the appropriate treatment for their cancer.
The key elements that make the laboratory possible are:
- New technology - The first sequencing of the human genome took 13 years to complete and cost £1.8billion. Since then our understanding of genetics has increased significantly and technology has improved dramatically, however it is only now that sequencing technology has become sensitive and reliable enough to enter routine clinical practice. In the past, genetic sequencing was conducted on fresh biopsy tissue or blood samples, whilst most other tissue based pathology tests could be conducted on preserved biopsy tissue. The advanced methodology developed by UCL scientists means that testing can be conducted on routine preserved biopsy material - meaning genetic sequencing can now fit in with existing routine pathology testing.
- Speed and cost - Until recently, oncologists wanting to provide genetic sequencing for their patients needed to use one or more of a limited number of companies that offered tests. Turnaround times are typically more than a week and cost up to hundreds of pounds for single gene tests and thousands of pounds for multi-gene tests. Due to the advances in next generation sequencing technology, completely automated bioinformatics and integrated electronic reporting, this new laboratory can turn tests around in five to seven days and screen for multiple genes in a single test at a cost that is similar to that of an individual gene test.
- Standardisation -The sequencing conducted in the Sarah Cannon/UCL laboratory will initially focus on mutations in genes that are 'actionable' - that is genes where there is a treatment available either in the clinic or as part of a clinical trial. As more therapies become available, and as our understanding of the genetics of cancer increases, further genes will be added.
- Location - By being located within a major cancer centre in a large city the laboratory is able to provide a rapid and reliable service to a large patient population.
As well as providing diagnostics for currently available treatments, the laboratory will also support Sarah Cannon Research Institute and UCL's Cancer Institute to identify potential patients to participate in clinical trials with innovative agents - further supporting the development and eventual introduction of additional targeted cancer therapies.