Company claims new 'mouth swab' gene test will lead to personalised breast screening

In collaboration with the Press Association

A UK company has launched a new genetic risk assessment service which they claim will allow doctors to draw up personalised breast cancer screening and prevention programmes.

The test combines information about a woman's lifestyle with a DNA test. The results are combined to calculate her overall 'absolute risk' of breast cancer, according to the company, BreastHealthUK.

The gene test is provided by Icelandic company deCODE genetics and is carried out using a sample of DNA extracted from a mouth swab.

- Dr Lesley Walker, director of cancer information, Cancer Research UK

It looks at seven gene variations - or SNPs - that are associated with an increased risk of breast cancer, several of which were discovered by Cancer Research UK scientists.

It combines these with results from a lifestyle risk calculation programme called the Tyrer-Cuzick model, also developed by Cancer Research UK-funded scientists.

Women are then presented with the results in consultation with an experienced breast surgeon or genetic counsellor, so that their genetic and lifestyle risk factors can be discussed and the implications fully explained.

The test is not available on the NHS but can be obtained privately for £700.

Breast surgeon Professor Gordon Wishart, medical director of BreastHealth UK, commented: "Although genetic testing is still a relatively young technique, when combined with proven methods to elicit lifestyle and family history factors, it can provide breast surgeons with new insights into detection and prevention of this disease."

However, experts pointed out that there is still a long way to go before the genetics of breast cancer is fully understood, and that research is needed to prove that these commercial tests will actually reduce cancer death rates.

Dr Lesley Walker, Cancer Research UK's director of cancer information, commented: "Assessing your risk of cancer and interpreting the results of genetic tests is a very complex matter. With more and more commercial genetic screens emerging, there's an urgent need for well-designed studies evaluating these types of tests - we need to know more about their clinical and psychological impacts, and their current scientific value."

Dr Walker continued: "We've still only got a few pieces of the genetic puzzle. Genetic testing without this missing information means we risk worrying women who may never develop the disease. The commercial market for genetic testing should be properly regulated and appropriate information on the pros and cons should be conveyed to customers.

"At this stage, Cancer Research UK would recommend that women worried about their risk of cancer visit their GP or contact Cancer Research UK's information nurses on 0808 800 4040. Women with a strong family history of breast cancer will be offered genetic testing on the NHS."

Women with a strong family history of breast cancer are already eligible for genetic testing on the NHS. According to guidelines published by the National Institute for Health and Clinical Excellence (NICE), women can be referred to specialist genetics services if they have a high risk of developing breast cancer.

This risk is usually determined by looking at a number of factors, including the age at which close relatives were diagnosed with breast cancer; whether a relative had cancer in both breasts; and whether any men in the family have had breast cancer.