Tuesday 21 May 2013

New genetic test for cancer patients will tell sufferers if they are likely to pass risk onto their relatives

  • Revolutionary test will be able to check for mutations linked to cancer
  • Angelina Jolie highlighted pre-emptive action when she discovered she had a rogue gene after her mother died from cancer

Gene monitoring: Results will be used to assess the risk of inherited cancers and pick targeted drugs for the most effective personal treatment

Cancer patients are to be provided with genetic tests to see whether their family members are also at risk of developing the disease.
The ‘revolutionary’ test will be offered to sufferers to check if they - and in some cases, members of their family - are carrying mutated genes which make them genetically prone to certain forms of cancer.
The significance of genetic testing was highlighted last week when Angelina Jolie revealed that she had a double mastectomy after discovering that she was carrying a rogue gene.



The actress was told that had an 87 per cent of developing breast cancer due to the presence of the BRCA1 gene.
The new test, being trialled on patients within the Royal Marsden Foundation Trust, will check for mutations linked to cancer in 97 genes, half of which are not currently tested by the NHS.
Patients can then be given personalised treatment plans based on the results of the test.



Doctors hope that in time the tests could become routine, helping identify those at highest risk of developing cancers due to the ‘predisposition genes’.
Women could then be monitored and potentially given drugs to stop the disease from developing.
The Institute of Cancer Research, which has developed the test alongside American genetics company Illumina, hope that it will eventually become available to all NHS patients after its trial next year.
The institute’s head of genetics, Professor Nazneen Rahman, said that the NHS and Department of Health are ‘very supportive’ of the programme.
Professor Rahman said: ‘It is very important to know if a mutation in a person’s genetic blueprint has caused their cancer.
‘It allows more personalised 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.’
She added: ‘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.’
Following Miss Jolie’s revelation, television presenter Kirstie Allsopp and her sister Sofie also described being told by a geneticist that they faced a one in three risk of developing breast cancer after their mother’s 26-year battle with the disease. 
Sofie, 32, underwent a preventative double mastectomy to remove both her breasts in 2010, followed by reconstructive surgery, while Kirstie, 41, has yet to decide whether to undergo the operation.
Referring to the increased attention on genetic testing following the high-profile cases, Professor Rahman said: ‘We’re trying to develop processes that will allow comprehensive, systematic use of genetic information in cancer medicine, so the types of situations and families we were hearing about last week we hope will be able to benefit.’
Describing current NHS genetic testing as ‘limited’, Professor Rahman said that she hoped any patient who could benefit from the test will eventually have access to it.
The test, which costs several hundred pounds to carry out, is currently being trialled on women with ovarian and breast cancer as part of a three-year programme.



Professor Martin Gore, medical director of the Royal Marsden NHS Foundation Trust, said that cancer patients are increasingly demanding genetic information.
He said: ‘Patients want to know. I am asked several times a day, particularly by women with ovarian cancer, is this hereditary?
‘There is no point in pretending that patients do not want to know and be hidden from what we might find out. The whole thing can be done in a much more systematised, efficient and kinder way for the patient.’
Professor Gore added: ‘This programme has been set up to work out the systems and the processes that we need in clinics to give patients and families this information – to start the ball rolling and talk about family risk.’
Breakthrough Breast Cancer’s Dr Caitlin Palframan said: ‘This programme has a lot of potential as this type of testing may help lay the ground for more personalised treatment for people with breast cancer.
‘In order to match the right treatment to the right woman, we will need to be able to test women quickly to find out the individual characteristics of their specific cancer.
‘We know that targeted treatment is the way forward for breast cancer, and this is something that Breakthrough Breast Cancer is working towards, so we are looking forward to seeing the results of the programme.
‘It is vital however that appropriate genetic counselling is offered if this testing is likely to identify any genetic risks within the person’s family and we hope that this is being considered.’


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