The program, involving the Institute of Cancer Research, London, The Royal Marsden, the Wellcome Trust Centre for Human Genetics and Illumina Inc, aims to find a way to allow more cancer genes to be tested in more people.
Mutations in some genes, referred to as cancer predisposition genes, considerably raise the probability that a person will have cancer.
Although scientists can identify about 100 cancer predisposition genes, in the UK, testing for these genes is currently very limited.
Looking for gene mutations is now quicker and at a more reasonable cost than ever before as a result of recent advances in methods for reading the genetic code, called sequencing.
There is now a possibility to transform cancer gene testing and to improve the health consequences of several cancer patients as well as their families, the scientists explained.
Professor Nazneen Rahman, lead researcher of the program and Head of Genetics at the Institute of Cancer Research (ICR) and the Cancer Genetics Clinical Unit at The Royal Marsden, said:
"It is very important to know if a mutation in a person's genetic blueprint has caused their cancer. It allows more personalized treatment, so for example such people are often at risk of getting another cancer and may choose to have more comprehensive surgery, or may need different medicines, or extra monitoring.
It also improves the information available for relatives about their own cancer risks. Sometimes a relative is found to also have an increased risk of cancer and screening or preventative measures can be employed. Just as frequently, testing provides the reassuring news that a relative is not at increased risk of cancer and does not need interventions."
Genetic testing provides an opportunity to prevent cancerIt is possible that by identifying cancer predisposition gene mutations, cancer could be prevented.
Approximately 1,000 women develop ovarian cancer every year in the UK due to a gene mutation. If this was known before the cancer developed, several patients might have decided to remove their ovaries, thus preventing the cancer from ever developing.
Angelina Jolie, for example, found out through genetic testing that she carries a mutation in her BRCA1 gene, which puts her at a higher risk of breast and ovarian cancer. Recently, she announced that she had a double mastectomy in order to prevent cancer.
"Identifying people with cancer due to gene mutations and offering testing to their relatives is a very effective way of helping people at highest risk of cancer before they develop the disease," Professor Rahman pointed out.
The desired result of the Mainstreaming Cancer Genetics program is to develop the laboratory, analytical, interpretative and NHS clinical capabilities needed to make cancer predisposition gene testing information regularly accessible at the clinic.
The program will help make genetic testing faster and easierA new test, called TruSight Cancer panel, has been created in collaboration with Illumina Inc that takes advantage of new sequencing procedures and can evaluate 97 cancer cancer predisposition genes within a few weeks. The test will be available in clinics by 2014.
However, generating the gene information is just the first-step. In order to recognize any mutations, it is necessary that the data are accurately evaluated. The consequences of the mutations then need to be precisely understood so physicians can give proper clinical advise.
"Analyzing genetic data and understanding how mutations actually affect a person is hugely complex. A real strength of this program is that the analysts are working directly with the people in the lab generating the data and the doctors that need to use it," said Professor Peter Donnelly, Head of the Wellcome Trust Centre for Human Genetics at the University of Oxford.
A new model is also being proposed by the program whereby genetic testing can be performed as a standard part of treatment for cancer.
"Many people with cancer are keen to have a gene test as soon as possible to help doctors plan the best treatment for them. The complex decision-making that people without cancer have to consider before having a test often doesn't apply," Professor Rahman said.
"We need a more flexible system that makes the testing process simpler when appropriate. This will allow many more people to benefit from gene testing," Rahman added.
The new model will first be piloted in women with ovarian or breast cancer at The Royal Marsden NHS Foundation Trust. A recent report found that only 53% of newly diagnosed breast cancer patients who were at high risk of carrying a BRCA 1 or BRCA 2 mutation reported that their doctors urged them receive genetic testing.
Professor Martin Gore, Medical Director of the Royal Marsden NHS Foundation Trust, said:
"Knowing whether or not a patient has a gene mutation is an important part of making personalized treatment plans. We want to be able to get the genetic information we need, when we need it. Patients are also increasingly aware of the value of genetic testing and more and more patients are requesting testing. This program will help make genetic testing quicker and simpler and The Royal Marsden is excited to be leading on its clinical implementation."
The experts hope that they are able to develop a "toolkit" by the end of their three-year program that will cover the complete procedure associated with testing any cancer predisposition gene. The toolkit could then be used throughout the NHS to help all patients with cancer, the authors explained.
Ted Bianco, Acting Director of the Wellcome Trust, concluded:
"There is much expectation about the promise of new technologies in genetics contributing to a sea-change in medicine and this program is a significant step on the road to making that a reality. With the outstanding team of clinical and academic scientists assembled to deliver the project, we are optimistic that the research will eventually make a real difference to people with cancer."
Written by Sarah Glynn