Some UK women with a family history of hereditary breast cancer are waiting up to two years for the results of genetic tests, a new survey by CancerBACUP reveals. The charity found that in two of the 19 regional genetics centres that responded to the survey, women face a nine month wait for their first appointment. In five of the centres, it takes one to two years for test results to come through. The survey results were reported at a conference held in London on 14 December, entitled 'BRCA Testing: Opening the Dialogue'.
Most cases of breast cancer are not inherited, but around 5-10 per cent are due to a gene mutation - often, but not always, in one of two 'BRCA' genes. Women who have a mutation in either the BRCA1 or BRCA2 gene have a greatly increased lifetime risk of developing breast and ovarian cancer. Identifying such women is not straightforward, however, since both BRCA1 and BRCA2 are relatively large genes, and any one of hundreds of different mutations in either can cause cancer susceptibility. Finding a new mutation in a family not previously investigated is therefore a labour-intensive process that can take many months.
In 2004, the National Institute for Health and Clinical Excellence (NICE) recommended that all women at very high risk of hereditary breast cancer should be offered genetic testing that encompasses 100 per cent of both BRCA genes. Genetic testing for breast cancer is offered by 23 regional genetics centres across the UK, but the actual tests are carried out by scientists working in 16 molecular genetics laboratories. The CancerBACUP survey found that at present, only six of the 12 laboratories that responded are testing 100 per cent of the BRCA genes.
The charity says that centres are also required to re-test DNA samples from women previously tested for 60 per cent of the BRCA genes, which partly explains the current delays - two of the laboratories said it would take two years to clear this backlog. The survey found that as well as differences in the tests being offered, there are also variations in the way genetics laboratories are dealing with the retesting. Seven of those who responded are seeking renewed consent before continuing their search for gene mutations, while five are not. CancerBACUP says that according to a patient survey, 40 per cent of women would prefer to give renewed consent before retesting takes place.
Dr Andrea Pithers, the charity's Genetic Information Project Manager, said: 'We would like to see all women being informed that testing 100 per cent of their BRCA genes is now available for everyone, in order to give them the choice over whether they would like to be retested'. She also called for centres to speed up the time taken to give women their test results, to meet government targets stating that by 2006, diagnostic test results should be made available within eight weeks. A spokesperson for the Department of Health said that 'we are working with commissioners and providers of genetic services to ensure that patients are being appropriately referred in line with the NICE guideline, that backlogs are cleared and that test results are delivered more quickly in future'.