Mother chooses to undergo major surgery over years-long limbo

Key quote

"I have an 11-year-old daughter and a 14-year-old son. If it takes this long to get one result, how long is it going to take to get another one, and another one? It is incredibly frustrating and horrendous to be waiting this long" - OONAGH WILSON

Story in full A 36-YEAR-OLD Scots mother elected to have her breasts removed and a hysterectomy after being told she would have to wait at least two years for the results of genetic tests to discover if she had an increased risk of cancer.

Oonagh Wilson, who has been waiting now for almost four years to find out if her family faces a greater risk of breast cancer, yesterday spoke of her anger and frustration at the delays.

A backlog of women waiting for results has been blamed on lack of funding and trained staff, changes to the way services are delivered and delays in getting licences to carry out the tests, which have to be obtained from genetics watchdogs.

Politicians yesterday described the situation as "inhuman" and "shocking". Mrs Wilson said she has been left in limbo, not knowing whether her two children and other family members were carrying a cancer "timebomb".

Mrs Wilson, of Elgin, Moray, spoke out as the charity Breakthrough Breast Cancer warned that some women felt forced to have their breasts removed before getting the results of tests because they were too worried to wait longer. Other women choose to go private, at a cost of up to 1,800, to get test results in a matter of weeks rather than years.

Neither the Scottish Executive nor the NHS could provide figures for how many women are waiting to find out the results of genetic tests, but about 450 such tests for breast cancer genes are carried out by Scottish doctors each year. Campaigners have called on the Executive to follow England and set a target for the time genetic test results should take, with a maximum of up to eight weeks by the end of 2006.

But even women south of the Border are waiting much longer due to a backlog in testing, while setting up new equipment is also delaying the process.

Mrs Wilson, now 39, said she was constantly fighting to keep worries about the test results out of her mind. Her mother died of breast cancer in 2002. Her grandmother also died of the disease and two aunts have been diagnosed and treated.

Blood from her mother was submitted for genetic tests, looking for the breast cancer genes BRCA1 and BRCA2, at the end of 2002. Tests have to be carried out on a relative with the disease before testing can be done on healthy relatives.

But when Mrs Wilson was told that she would be waiting two years for the results, she decided within a week to have a hysterectomy and double mastectomy to reduce her own risk of the disease.

The operation took place in April 2003. In October 2003, the family received a negative test result for BRCA1 but are still waiting for the BRCA2 results. Mrs Wilson said her biggest fear was that this test would also come back negative and her family would be no nearer knowing which gene was behind the large number of cancers in the family.

"I have an 11-year-old daughter and a 14-year-old son. If it takes this long to get one result, how long is it going to take to get another one, and another one?

It is incredibly frustrating and horrendous to be waiting this long," Mrs Wilson said.

The women's refuge worker said her daughter, Bethany, was aware of what was happening, but was not old enough to understand how it might affect her.

She said she would allow her daughter to make up her own mind about whether or not to have preventative surgery, but added: "It would be terrible for me, as a mum, if she did not choose the preventative surgery. I would hope she would see it is better to have a life and lose a body part."

Other members of the family are waiting for results of genetic tests before they decide what action to take themselves.

Mrs Wilson said she had not taken a private test because she had not known it was available. She and her husband, Richard, were frustrated at the lack of information they were given about the NHS delays and had been told on several occasions the results would be coming soon only for them not to arrive.

A spokesman for NHS Grampian said: "There are only two labs in Scotland that do the tests, one in Aberdeen and Glasgow. The service did receive funding from the Executive 18 months ago, so we are making in-roads into the waiting list."

NHS Grampian said the backlog had been caused as requests for testing have increased much faster than the number of scientific staff needed to process them.

The Executive has been battling to bring down waiting times. But Andy Kerr, the health minister, last month announced: "NHS Scotland is continuing to deliver. This is our best ever performance on waiting times, something for which hard-working NHS staff deserve enormous credit."

But he conceded that "cancer waiting times performance across the NHS isn't good enough".

The Executive blamed the backlog on delays in labs getting licences to perform the tests. The charity Breakthrough said NHS labs and ministers needed to talk to each other to discuss what needs to be done to speed up testing - whether this was more funding or a different way of running the service. Richard Lochhead, the Moray MSP, is now tabling a series of parliamentary questions on the topic.

He said: "Scottish ministers must give this issue their urgent attention to ensure that patients do not have to wait so long for the results of these vital and potentially life-saving tests."

A UK-wide survey of 27 genetic counsellors by Breakthrough found that over half said they had patients who opted to have breasts removed while waiting for test results.

Some 59 per cent of counsellors knew patients who had gone private because they had waited so long.

Jeremy Hughes, the chief executive of Breakthrough Breast Cancer, said: "It's unacceptable that women are forced to put their lives on hold as they wait so long to get these vital test results.

"That some feel compelled to make crucial healthcare decisions out of fear of developing breast cancer while waiting for their test results is appalling."

A spokesman for the charity Breast Cancer Care said it had been aware for some time there were "unacceptable" delays in genetic testing. "To wait for two years for genetic test results is forcing people to make choices without having the correct information. To decide on whether to have a preventative mastectomy is a very difficult step," he said.

Steve Webb, the Liberal Democrat health spokesman at Westminster, said: "These are shocking statistics. Women are having to wait an inhuman amount of time for the results. The drastic measures some women are taking show the extent of distress which is being caused. It seems illogical that it should take so much time to get the results from tests."

Dr Nanette Milne, the Scottish Conservatives' health spokeswoman, expressed concern that women were having preventative surgery due to delays in testing. "While I can understand the concern women have with the inadequacies of the current set-up, this is a drastic step and not one to be undertaken lightly," she said.

Shona Robison, her Scottish National Party counterpart, said: "The Executive needs to look at setting targets on this because these waits are unacceptably long.

"While I appreciate some of the reasons for the delays, if women are having mastectomies because they are concerned about waiting times that is a very serious situation and we need to look at how waiting times can be dramatically reduced.

"Women shouldn't have to wait that length of time in fear of what they are going to find out.

An Executive spokeswoman said its expert group had submitted a report on genetic services and it was now being considered by ministers. She said that NHS Quality Improvement Scotland had yet to set standards for NHS genetics services but would do so after the report was published "shortly".

"There is no doubt that waiting for test results can be a worrying time. It is, however, recognised that testing these large cancer-susceptible genes can often be a complex process that can take a long time in a few cases," the spokeswoman said.

"That is why the Scottish genetics service continues to look at ways to develop and improve the service - including waiting-time performance where appropriate.

"It is also extremely important that patients are kept fully informed about reporting times when they are in the testing process, and good practice guidelines are being developed."

Faulty genes cause a lifetime risk of developing breast or ovarian disease

ABOUT 5 per cent of breast cancers diagnosed each year are due to inherited faulty genes linked to a strong family history of the disease.

A further 10 to 15 per cent occur in women with a moderate family history of breast cancer.

A woman who carries a fault in the BRCA1 or BRCA2 genes - the two known breast cancer genes - faces a lifetime risk of developing breast cancer of up to 85 per cent, and up to 40 per cent for ovarian cancer.

But genetic testing for these genes means that women with a family history of cancer have the option of undergoing preventive surgery to cut the chances of the disease developing in the future.

The testing is a two-step process, where a living relative with breast cancer must be tested first before healthy family members can be screened for the genes.

Firstly, the genetics lab will analyse all the genes of the affected relative to see if there is a fault linked to cancer. Breakthrough Breast Cancer says this process is like reading a whole book to find a possible spelling mistake, meaning it can take a long time.

Once a fault has been found in this first stage, healthy relatives can be tested to see if they also have inherited the fault - like looking for a spelling mistake in a book when you already know what page and line to look at.

Before genetic testing is started, women are given counselling, explaining what the results may mean to them and what their options will be.