Breast cancer gene tests may treble Aug 4th 2013, 22:18
The number of women being offered a breast cancer genetic test on the Welsh NHS could treble within the next few years, a leading expert says.
The Welsh government is investing in improved technology which would make it quicker and cheaper to test more women who may have the BRCA genes.
This was the test which Angelina Jolie took before having a double mastectomy.
Genetics consultant Rachel Butler said there had been a surge in women wanting the test since the actress went public.
Around 120 women deemed to be at high risk of having breast or ovarian cancer are currently tested for the BRCA1 and BRCA2 genes each year in Wales on the NHS.
About 20% of them will have a mutation linked to hereditary breast and ovarian cancer, the Welsh government said.
They can then decide which options are best for them to manage their risk of developing cancer.
Dr Butler, consultant clinical scientist at the All Wales Genetic Laboratory, based at the University Hospital of Wales in Cardiff, said the new technology – which the Welsh government is helping to fund – would help boost the number of women tested.
Although it would be rolled out gradually across Wales over the next year or two, she estimated that some 300 to 400 women could eventually be offered the test.
“It’s a really positive step as this test is important for two main reasons,” she said.
“Firstly, I think it really manages anxiety. If you have someone in your family who’s had cancer you do worry about having it and if you have a negative test it allays that anxiety and that’s a really big thing.
“Secondly, there are now drugs that are particularly effective for people who have breast cancer and have the BRAC1 or 2 mutation.
“This type of personalised medicine, as we call it, does make a difference.”
‘Angelina Jolie effect’
Dr Butler, who runs the genetic testing laboratory, said demand was “huge” for the test and that the laboratory had seen a “surge” in women coming to them wanting it following the publicity surrounding Angelina Jolie’s surgery.
The 37-year-old film star revealed in May that she was told by doctors that she had an 87% risk of developing breast cancer without the radical treatment because of genes she inherited from her mother.
“The Angelina Jolie effect is definitely a good thing as people are now talking about it,” said Dr Butler.
“But there are patients who come in to see us and for the counselling we offer and even if we work out that they do not meet the current strict criteria, they still want the test and will pay for it privately instead.”
In June, new National Institute for Health and Care Excellence (Nice) guidelines were published which loosened the eligibility criteria for genetic testing of the BRCA cancer gene in England and Wales.
It means women who have a family member diagnosed before she is 50 could be eligible for the test. Previously, they had to have two relatives diagnosed before the age of 50.
The Welsh government said it was working to make the tests available for more women on the NHS.
“Advances in technology (such as next generation sequencing) and new treatment options mean that potentially there is benefit in wider testing for some breast cancer patients,” a spokesperson said.
“Testing is becoming cheaper and quicker, and there could be advantages in lowering the threshold for testing.
“This will result in a reduction in the percentage of BRCA-positive women identified, but this would be outweighed by the benefits to those additional women identified who could be eligible to access personalised treatment options.
“This type of stratified medicine approach is being discussed in Wales and in England.”
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