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Genetic data on a screen

Genetic data is being used to help doctors decide treatments

When breast cancer drug trastuzumab (Herceptin) became available to the NHS in 2006, many hospital pathology labs were caught on the hop.

Trastuzumab is designed to treat women whose tumours contain high levels of a protein called Her2, but having to routinely, reliably and accurately test a tumour’s Her2 levels, as part of ‘business-as-usual’, was uncharted territory for many pathologists.

As we’re starting to see, drugs like trastuzumab, which only work in a particular group of patients, are very much part of the future of cancer medicine. But as they begin to emerge from clinical trials, the NHS needs to be properly equipped to carry out the lab tests that tell doctors who will benefit and who won’t.

If lab and hospitals gradually set up these services themselves, it could lead to duplication of effort, or variations in service for patients. So Cancer Research UK felt that it would be better to try to jump-start the process and make sure that the NHS is ready for this new era of ‘stratified’ medicine. In June 2010 we announced that we were putting together a partnership to try to make this happen. Today, just 18 months later, the programme is up and running and recruiting its first patients.

To coincide with this exciting announcement, we thought we’d lift the lid on the programme and look at the details of how it will work.

How will it work?

The key thing about the Stratified Medicine Programme is partnership. The whole programme is being funded, to the tune of £5.5million pounds, by Cancer Research UK, AstraZeneca, Pfizer, and the government’s Technology Strategy Board. Our share is being funded through our Catalyst Club – a pioneering venture to raise a total of £10 million to propel forward the use of personalised cancer treatment.

But the partnerships don’t end there. In the UK we’re fortunate enough to have several world-class genetic testing laboratories. When we were designing the programme, to overcome some of the challenges in improving genetic testing services, we felt it was important to build collaborations across the communities currently delivering them.

So the programme partnered these testing labs with several hospitals, so that samples from patients diagnosed at these hospitals can be sent to one of these labs for high-quality genetic tests, and the results sent back electronically.

The video above shows how this is now working in practice, and the map below shows the centres involved.

A map showing the locations of the hubs in our Stratified Medicine Programme

A map showing the locations of the hubs in our Stratified Medicine Programme

Which patients will be involved?

Initially, we’re focusing on patients diagnosed with breast cancer, bowel cancer, lung cancer, prostate cancer, ovarian cancer and melanoma. We’ve chosen these because they’re common in the UK, and also because there are targeted drugs currently available or in the pipeline.

The table below shows the genetic tests that will be carried out on samples from patients with these cancers. As the video shows, the programme will also involve taking a sample of the patient’s blood so the genetic defects in his or her tumour can be compared with their ‘normal’ DNA.

Gene Cancer types being tested Rationale
RAS genes KRAS in bowel and lung cancer;NRAS in bowel cancer and melanoma Mutations in this family of genes have been found in these tumour types and the implications for treatment are the subject of ongoing research. Certain mutations in the KRAS gene have been found in people who don’t respond to certain tyrosine kinase inhibitor drugs.
BRAF Bowel cancer, lung cancer, melanoma This gene is frequently mutated in cancer, and is the focus of a lot of current research. Drugs that target mutant BRAF have also been used in clinical trials in the UK. A BRAF inhibitor drug has recently been approved in the United States for use in metastatic melanoma.
TP53 Bowel cancer, breast cancer, ovarian cancer The p53 protein product of this gene has a pivotal role in detecting, stopping division of and programming self-destruction of potentially pre-cancerous cells with acquired abnormalities of DNA. As a result, this gene is the most commonly mutated gene in all cancer types and the subject of much ongoing research.
EGFR Lung cancer Mutations in this gene can help predict response to certain tyrosine kinase inhibitor drugs.
PI3KCA Lung cancer, breast cancer, ovarian cancer, melanoma Mutations in this gene are the focus of several labs worldwide, and there are a number of drugs that target the protein it makes – PI3 kinase – currently in clinical trials worldwide.
CKIT Melanoma c-KIT gene mutations have been discovered in certain types of malignant melanoma and are the subject of ongoing research.
PTEN Breast cancer, prostate cancer, ovarian cancer The tumour suppressing and growth regulating functions of the PTEN gene are commonly lost in many cancer types and this is an area of current research.
TMPRSS-ERG Prostate cancer TMPRSS-ERG is the product of two genes (TMPRSS and ERG) that fuse together in some prostate cancers and is the subject of current research.
EML4-ALK Lung cancer This gene product is the result of the ALK and EML4 genes joining together as part of a chromosomal rearrangement occurring in abnormal cells. Evidence is accumulating that patients with this genetic fault might benefit from certain drugs known as ALK inhibitors and an ALK inhibitor drug has recently been approved for use in the United States.

As the programme – and the evidence supporting it – evolves and grows over the years, more genes will be add or removed from this list as needed.

What happens next?

It’s important to emphasise that – as things currently stand – patients’ treatment won’t change as a result of the programme, mainly because our knowledge of how genes and cancer treatments are interrelated is still very much in its infancy. Instead, the programme aims to achieve two key things:

Firstly, we hope that the programme will help the NHS lay the foundations for a truly cutting-edge routine genetic testing service. The team has already identified – and are overcoming – several significant hurdles in getting it off the ground.

Chief among these has been the technology side of things – sending complex genetic data electronically, from hospital to hospital, maintaining the link with patients’ records as they pass through different stages of treatment, is proving no mean feat. Having identified these challenges, we’re hoping that, in phase two of the project, we can help the wider NHS overcome them.

Secondly, we hope to create a unique source of data – all held with strict controls over access and anonymity – for researchers, to help guide future projects. In an era where information is becoming the foundation of everything we do, we sincerely hope that this new reservoir of genetic and clinical data will help doctors in the here and now design the cancer treatments of tomorrow.

Henry

- Read a detailed Q & A about our Stratified Medicine Programme (PDF)

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