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Gene testing – why more patients need it and how to bring it to them

Posted on 18 February, 2014 by Eva Sharpe

Last week I attended an event looking at how gene testing can help people with cancer and their families. Representatives from a range of cancer charities and support groups joined a discussion about the future of gene testing with leading researchers and clinicians. I wanted to share with you some of the main messages which I took from the event as an attendee.

The afternoon featured a fascinating talk from Professor Nazneen Rahman, Head of the Division of Genetics and Epidemiology here at The Institute of Cancer Research in London and also Head of Cancer Genetics at our partner hospital, The Royal Marsden.

Professor Rahman began by talking about why and how we do testing for cancer predisposition genes in the NHS at the moment.

She explained that testing for gene mutations that increase the risk of cancer in the unaffected relatives of cancer patients can help in reducing their risk, with the possibility of preventative measures like surgery in some cases.

But Professor Rahman also stressed the importance of gene testing in cancer patients themselves. Learning that a cancer patient had inherited a predisposition gene mutation could help clinicians in arriving at a diagnosis and prognosis, help shape treatment and follow-up, and open up management options for reducing the risk of a subsequent cancer. Finding out that a patient has not inherited a predisposition gene mutation could also be very useful in their management.

One point Professor Rahman made very strongly was that the current system had been developed to meet the needs of the unaffected family members of patients with cancer, rather than the cancer patients themselves. And that meant the NHS was failing to make optimal use of gene testing in improving cancer care.

Researchers have discovered more than 100 cancer predisposition genes with clinical use, most famously the BRCA genes which predict risk of breast and ovarian cancer. They made the headlines last year when Angelia Jolie announced she had had a double mastectomy to reduce her risk of developing breast cancer after discovering she had a BRCA1 gene mutation which increased her risk.

The NHS currently has gene tests for about half of these cancer susceptibility genes, but the provision of testing is patchy and inequitable. Gene testing had been treated as something of a luxury, Professor Rahman said, and was largely restricted to people who asked for it.

Much of the problem centres on the entry point for gene testing, which has tended to be through patients concerned about a family history of cancer, rather than testing all patients who actually have the disease. The NHS has complex eligibility criteria to determine if a patient’s family history is sufficiently strong to warrant testing.

Last year, Professor Rahman commented on NICE’s new national guidelines on familial breast cancer, which found it cost effective to widen out access to BRCA testing even further, but warned that doing so would run up against limitations in NHS capacity.

So what are the bottlenecks in getting gene tests to more patients?

Concerns over whether the NHS could routinely deliver such large scale testing are being addressed by modern technologies and programmes such as the Mainstreaming Cancer Genetics Programme. The programme is using new DNA sequencing technologies to deliver a faster and cheaper gene test to analyse the genetic information relevant to cancer, and to facilitate making this a routine part of cancer patient care.

One of the major bottlenecks the programme is looking at is the delivery model of gene testing.

Currently gene testing is carried out by clinical geneticists, but Professor Rahman talked of a new ‘oncogenetic’ gene testing model, piloted at The Royal Marsden, which allows approved members of the cancer team to order gene tests directly. The oncogenetic model retains the flexibility to allow referral to genetics at any time, should further discussions be required. You can read more about this new model in this blog post from the MCG team.

This oncogenetic model is faster and more effective for the NHS than the current gene testing processes, and allows more patients to benefit from gene testing.

The eventual aim of the programme is to develop a framework for every cancer patient to have access to genetic testing. I found the event a really insightful introduction to how this might be done, and I will watch this programme with interest to see what happens in the future.

The ‘How Gene Testing Can Help People With Cancer - A Consultation with UK Cancer Charities’ event was organised by the ‘Mainstreaming Cancer Genetics Programme’ team at The Institute of Cancer Research (ICR), and Genetic Alliance UK - a national charity working to improve the lives of patients and families affected by genetic conditions.


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