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Findings from the BRCA-DIRECT pilot phase

Initial findings from the BRCA-DIRECT pilot study, published recently in Journal of Medical Genetics, included data from the first 130 enrolled participants, and offers early evidence of acceptability and effectiveness of a digital pathway for genetic testing in women with breast cancer.


Genetic testing for breast cancer, (known as BRCA-testing), identifies inherited changes in three genes (BRCA1, BRCA2 and PALB2) that increase the likelihood of developing breast cancer. The process usually involves a consultation with a healthcare professional to discuss family cancer history, discuss implications of the test and the possible results, followed by a blood test and finally, a consultation to receive the results.


BRCA-DIRECT is offering an alternative pathway, that people can complete at home, with freepost return saliva sampling, standardised digital information-giving, and a telephone hotline to access specialist genetics or administrative support.


What did the pilot study find?


Initial findings from the pilot study showed that approximately 9 out of 10 participants who received information about the test digitally, reported high levels of satisfaction and convenience (88% and 86% respectively). When compared with women who received the pre-test information from a healthcare professional, reported levels of satisfaction and convenience were very similar (86% and 88% respectively).


Likewise, similar trends between these two comparison groups were seen with regards to improvement in participants’ knowledge about BRCA-testing after receiving the information, and participants’ feelings of anxiety over time. Low level of support was sought via the hotline, with just under 1 in 4 participants making contact. Participants mainly called for help with administrative or technical issues, with less than 1 in every 10 calls requiring more information about the test or results from a genetics specialist.


Why are these findings important?


Around 3-5% of breast cancers are caused by an inherited gene fault. Gene faults in the BRCA1, BRCA2 and PALB2 genes significantly increase an individual’s lifetime risk of breast cancer. Currently only a small proportion of people diagnosed with breast cancer have access to NHS genetic testing, in part due to a shortage of specialists to provide genetic counselling. If a gene fault is found, patients can make informed choices about their treatment options, and their relatives can be tested for the inherited gene fault too. Digital delivery of BRCA-testing information is not currently standard practice, but if this method is found to be acceptable, more patients will be able to access BRCA-testing in the future.


Findings from the pilot phase of BRCA-DIRECT supported safe continuation of the study to evaluate the pathway in 1000 women from London and Manchester hospitals.

In August 2022, the recruitment target was reached, with results from the full study expected in early 2023. Following conclusion of the study, we are aiming to adapt and trial real-world implementation of the pathway as NHS standard-of-care, enabling increased access to BRCA-testing.


For more information about the BRCA-DIRECT, click here.


You can access the full publication here or by clicking on the image below.



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