Breast cancer genetic test backlog

14 December 2005

The charity CancerBACUP has conducted a survey of BRCA1/2 genetic testing in 23 regional genetics centres, to detect mutations associated with substantially increased risk of breast and ovarian cancer (see BBC news item). They report that in two of the 19 centres that responded, women are waiting up to nine months for their first appointment, and that in five centres women were waiting between one and two years for their test results. The survey also looked at the sixteen different molecular genetics laboratories that performed the genetic testing on behalf of the regional genetics centres, of which 12 responded to the survey; of these only six were currently testing 100% of all the BRCA gene variations linked to breast cancer.

The 2004 National Institute for Clinical Excellence familial breast cancer guidance said that for women at a very high risk of familial breast cancer referred for genetic testing of the BRCA1, BRCA2 and TP53 genes, testing should aim for 100% sensitivity and include analysis of the complete BRCA genes. Testing of these relatively large genes for the presence of any of the hundreds of mutations previously associated with breast cancer susceptibility (as opposed to detection of a specific mutation already identified in an affected family member) is a laborious process that necessarily takes many months to complete. In addition, centres are still working to complete re-testing of samples previously analysed for the most common BRCA mutations, which must now be fully sequenced in order to detect as close as possible to 100% of possible mutations. Two laboratories reportedly said it would take two years to clear this backlog.

CancerBACUP's genetic information project manager Dr Andrea Pithers said it was: "

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