13 February 2017
ByAppeared in BioNews 888
The patient survey found that 80 percent of women in the highest risk bracket for developing BRCA1 or BRCA2 mutations wanted to be tested, but only slightly more than half of these patients actually underwent testing.
'We do not have a crystal ball, but genetic testing can be a powerful tool for certain women. It is worrisome to see so many of those women at highest risk for mutations failing even to have a visit focused on genetic counselling,' said co-author of the study Professor Reshma Jagsi, deputy chair of radiation oncology at the University of Michigan.
When mutations occur in the BRCA1 and BRCA2 genes, the tumour-suppressing proteins that act to repair damaged DNA can no longer function effectively, and the cells can become cancerous. A faulty mutation in one or both of the BRCA genes can therefore indicate a significantly increased risk of breast or ovarian cancer: for example, women with a mutation in the BRCA1 gene have a 40–90 percent lifetime risk of breast cancer and a 40–60 percent lifetime risk of ovarian cancer.
Genetic testing can identify these mutations at an early stage and help inform the patient about the options available, such as making lifestyle changes, undergoing regular screening or opting for preventative surgery. While tests have been available for two decades, their initial cost was seen by some as prohibitive. But recent efforts have created much cheaper and faster versions that have widened the scope for testing.
The study surveyed over 2500 women in the US, two months after each patient had undergone surgery. Of those surveyed, 66 percent reported having wanted genetic testing, while only 29 percent reported actually being tested.
Over half of the respondents (56 percent) who did not receive genetic testing said that it was because their clinicians did not recommend it to them. Fewer than 11 percent said they did not undergo testing because they did not want to, while less than 14 percent expressed concerns about the cost of testing.
The survey also identified that only 60 percent of high-risk patients received counselling. Counselling can help patients decide whether to request testing and to also understand test results.
Lead researcher Dr Allison Kurian suggested the lack of genetic testing could be due to the failure of doctors to understand the benefits of genetic testing. 'It is likely that some doctors do not realise the benefit that genetic testing provides,' she said. 'They may also lack the ability to explain the testing process and results clearly with patients.'
'Women are very interested in genetic testing but many fail to receive it. This is particularly worrisome because it means that doctors are missing the opportunity to prevent cancers in mutation carriers and their family members,' Dr Kurian added.The researchers highlighted that the survey was based entirely on patient accounts.