Family History of Bowel Cancer?, Press Releases

New scheme to routinely test patients for inherited cancer genes

CRUK LogoNew scheme to routinely test patients for inherited cancer genes

A new research programme will lay the foundations for routine testing for inherited cancer genes in patients with the disease.

Changes in certain genes, known as cancer predisposition genes, greatly increase the chances of a person developing cancer. Knowing whether a patient carries such a gene can affect decisions as to how treat them.

There are almost 100 known cancer predisposition genes, but at present testing for them in the UK is done on an ad hoc basis, with patients referred to a genetics service if they are suspected of having an ‘inherited’ cancer.

Under the new Mainstreaming Cancer Genetics programme, initially involving patients with breast or ovarian cancer patients at the Royal Marsden in London, screening for cancer predisposition genes will be done routinely.

The genetic testing will be managed by the patient’s cancer doctor, rather than by referring them to a genetics clinic. It will be rolled out to patients with other cancer types over the next few years.

The ultimate aim is to develop a ‘toolkit’ to share with other parts of the NHS, allowing them to set up similar services for patients.

The programme is being led by a team at The Institute of Cancer Research, in partnership with The Royal Marsden, Illumina Inc, and the Wellcome Trust Centre for Human Genetics, which provided £2.7m of funding.

Professor Nazneen Rahman, head of genetics at the Institute of Cancer Research (ICR), said it was “very important” for doctors to know if a inherited change in a patient’s genetic blueprint had caused their cancer.

Testing allows for more personalised treatment, since a patient with a cancer predisposition gene may face a higher risk of developing a subsequent second cancer.

Knowing they have the gene gives them the option of having more comprehensive surgery, taking different medicines, or receiving extra monitoring.

The screening programme could also provide useful information about the cancer risks of a patient’s relatives.

“Sometimes a relative is found to also have an increased risk of cancer and screening or preventative measures can be employed,” Dr Rahman added.

“Just as frequently, testing provides the reassuring news that a relative is not at increased risk of cancer and does not need interventions.”

The new programme will use a new test, developed in conjunction with Illumina Inc, that takes advantage of new sequencing methods.

The TruSight Cancer panel can analyse 97 cancer predisposition genes within a few weeks for the cost of a few hundred pounds and will be ready for use in the clinic in 2014.

Professor Peter Johnson, Cancer Research UK‘s chief clinician, said researchers now have a wealth of information about the inherited gene faults that increase a person’s cancer risk, and this knowledge can help tailor treatments for patients whose cancers are linked to these mutations.

“This exciting new initiative will help embed genetic testing into routine NHS cancer care, and hopefully allow more cancer patients to benefit from such testing – and more personalised care – in the future,” he added.

Patients will be tested for inherited faults in their body’s DNA that might be linked to their cancer, rather than faults in the tumour itself.

That will complement initiatives such as Cancer Research UK’s own stratified medicine programme, which aims to analyse the faulty genes driving a patient’s tumour, paving the way for doctors to tailor treatments to their type of cancer.

“Together, these programmes will help revolutionise the way cancer is managed in the NHS, and bring forward the day when all cancers are cured,” Professor Johnson added.


About kjmonahan

Service lead for Family History of Bowel Cancer Clinic


6 thoughts on “New scheme to routinely test patients for inherited cancer genes

  1. “Just as frequently, testing provides the reassuring news that a relative is not at increased risk of cancer and does not need interventions.” – It will be important to educate the people who are tested, that just because a particular gene is not detected, they still need to live a healthy lifestyle and reduce their risk factors for developing cancer (eg, use of sunscreen, stop smoking/reduce exposure of 2nd hand smoke, eat fresh fruits/veggies, etc.). Also, is there a risk of insurance denying coverage for treatment due to a ‘pre-existing condition’? This may not be an issue in the UK, but in the US, there are concerns about how this information will be used by insurance companies.

    Posted by Kimberly Marshall | May 30, 2013, 3:28 pm
    • Fortunately in the UK there is a moratorium against insurance companies using information from genetic testing to determine individual premiums.

      I completely agree that healthy lifestyles are very important both for people with positive and negative genetic testing results

      Posted by kjmonahan | May 30, 2013, 3:42 pm
  2. Seems like they have more cancer markers than most other programs out there. I am impressed how soon they will be up and running (2014) for such a los cost. I am wondering though if they will have a committed bioinformatics group attached to the sequencing and if it is whole genome or exome sequencing. Seems to make a difference. In addition I am wondering the value for ovarian cancer. Altough I would like to see the study done BRCA1/2 status is the only marker that is approved as a genetic risk factor (some others have been suggested) but this will be only 10% of ovarian cancer patients.

    Posted by sjwilliamspa | May 30, 2013, 3:48 pm
  3. Would love to see something similar in the states. As a Lynchie, I see a host of younger colon cancer patients come into GI doctor’s offices, only to not get genetic testing. Looking to make a difference one day at a time.

    Posted by semicolondave | May 30, 2013, 10:19 pm


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