Back in December, we spoke about the ‘Angelina Effect’ on BRCA testing and whether or not celebrity Angelina Jolie’s preventative double mastectomy had affected the number of people choosing to take the test. In the two weeks after Jolie wrote an article describing her journey through testing and then subsequent surgery, researchers saw a 64% uptick in the rate of BRCA testing but without a corresponding increase in mastectomy rates. In fact, the number of mastectomies during that period was actually decreased.

As BRCA testing is an expensive undertaking – around $3000 a test – there was concern that too many people were opting to examine their genomic data without considering their individual risk factors. However, a study published in JAMA this week tells a different story.

Who should be having BRCA testing?

The “Angelina” effect may have caused a spike in genetic tests for breast cancer, but not an increase in surgical interventions / G8UK

The paper details the results of a survey of 2529 women with early stage breast cancer, taken roughly 2 months after they had surgery. When asked whether or not they had wanted to be tested prior to the surgery, the majority indicated that they had despite only a small proportion having ultimately had the tests done. Even among the small percentage of women who had been tested, many were not counselled about what the results might mean for their prognosis.

“Genetic testing results can affect what sort of surgery a woman may choose to treat her existing breast cancer, as well as what treatments she should pursue to reduce the risk of forming new cancers in the future,” said Dr. Reshma Jagsi, a senior author of the study. “We don’t 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.”

Discovering a BRCA1 or BRCA2 mutation doesn’t just have implications on the patient’s treatment, but also on their immediate family. Parents or children may carry the same mutation and will also be at risk of breast and ovarian cancers. Dr. Allison Kurian, associate professor of medicine and of health research and policy at Stanford University, California, has said, “Knowing about a genetic mutation can change care and save lives of many people, namely the patient and many of her relatives.”

More like this: Why BRCA1 mutations cause such specific cancers 

The participants in the study had a mean age of 62 and had all been diagnosed with stage 0 to stage II breast cancer between July 2013 and September 2014. Of those women, 66.0% reported that they wanted testing, whereas only 29.0% said they had actually had the tests done. Women at increased risk of BRCA mutations correspondingly showed higher rates of testing (with 52.9% tested against 17.8% of average risk women), but only 61.7% of the high-risk patients tested had a session with a genetic counsellor to discuss their results.

The reasons for not having these tests varied, but the by far the most common reason was that the patient’s physician had not recommended it (accounting for 56.1% of those untested). 13.4% suggested that the tests had been too expensive, but only 10.7% of the untested women surveyed said that they had not wanted the tests. Less than 1% of the participants had refused the tests because their families had been against it.

High risk patients who were most at risk of being under-tested were found to be Asian or older women, despite significant evidence that both groups are likely to carry BRCA mutations.  

“Genetic counselling and testing are not well-matched to medical need and this is particularly worrisome because it means that doctors are missing the opportunity to prevent cancer deaths among mutation carriers and their families,” Dr Kurian said. “Patients are very interested in genetic testing; this suggests that clinicians may be part of the problem, due to a lack of genetic knowledge or a lack of access to genetic counselling and testing services.”