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BRCA-DIRECT: A Digital Pathway for BRCA-Testing in Breast Cancer

The BRCA-DIRECT study aimed to provide an easy way for patients with breast cancer to access genetic testing within the NHS. Patients in the study received digital information about genetic testing for the BRCA1, BRCA2, and PALB2 genes.

In standard care, this “pre-test information” is usually provided during a face-to-face or telephone appointment with a health care specialist . The digital format of BRCA-DIRECT may allow a more streamlined process for patients and clinicians.

The BRCA1, BRCA2, and PALB2 genes are associated with hereditary breast cancer. Identification of a gene fault (pathogenic variant) in one of these genes can have health implications for the patient and her relatives.

In this study we examined the feasibility, safety, and acceptability of the digital information model. If the digital pathway is successful, the concept could be expanded to other cancers and hospitals.

Image of a lady in a brick room typing on a laptop. She has mid-length brown hair and is facing away from the camera, and is sitting with her legs up on a bench. Her laptop is on her legs and is diaplaying a plain blue background.

What happened on the study?

Participants provided either a saliva sample or blood sample* (Royal Marsden Hospital Only), and accessed the digital platform using their laptop, tablet, smartphone, or any other device connected to the internet. 

We also collected some basic family history details, and asked some questions to gather information about general knowledge of BRCA-testing and anxiety levels at different points in the process.

Half of all those who took part saw our digital information, and half booked a standard appointment with our genetic counsellors. Participants could then sign their digital genetic test consent to trigger their BRCA genetic test.

Participants were then randomised again to receive their results, either digitally or by booking a telephone appointment with a genetic counsellor. Everyone who had a positive result was then referred onto their local clinical genetics team.

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How best to treat the cancer

The risks of  developing future cancers

Whether family members are at high risk of cancer

The results of a BRCA-gene test can be of value for any woman with breast cancer as it can provide useful information on:

Faults in BRCA1, BRCA2 or PALB2 are also linked to higher risk of ovarian, prostate, and pancreatic cancers, so it is important to test people for these changes.  

Where can I learn more about BRCA-DIRECT?

Contact us using the contact form on our website, or send us an email at
Alternatively, you can visit the websites below for more information about the study design:

If you would like more general information about BRCA gene testing, check out the external links below.


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