Information for clinicians
Thank you for visiting the BRCA-DIRECT programme website.On this page, clinicians in participating NHS trusts can find out more about our process and how to refer women to our programme. If you would like to speak to one of our team, you can contact us on 020 3437 6514.
Who can you refer to BRCA-DIRECT?
Our programme accepts referrals for genetic testing for any woman in participating trusts with a new diagnosis of breast cancer or metastatic disease. Please see the below table for factors about your patient that might impact their eligibility.
If you have any questions about whether a patient is eligible for genetic testing with our programme, please contact the programme team before referring them on 020 3437 6514.
What does the genetic test entail?
We are offering all programme eligible women the same NHS standard of care National Genomic Test Directory R208 gene panel. We are offering this genetic test to all women who meet our eligibility criteria, even if they do not meet the National Genomic Test Directory eligibility criteria.The R208 panel currently tests for seven cancer predisposition genes: BRCA1, BRCA2, PALB2, ATM, CHEK2, RAD51C, and RAD51D.
What about patients eligible for TP53 testing?
This gene test panel does not include TP53.If your patient’s breast cancer was diagnosed under 30, or they are under 35 and have a HER2 positive breast cancer, they are eligible for both the R208 panel (which we offer) and the R216 Li Fraumeni syndrome test (TP53).
Our programme cannot offer the R216 panel, nor other panels on the National Genomic Test Directory for rarer breast cancer syndromes.
If your patient meets these criteria, or you suspect a rare breast cancer syndrome, please refer the patients to Clinical Genetics who can arrange additional genetic testing and clinical examinations, where appropriate.
What is the process for your patients?
- Once you have identified an eligible patient and handed out one of our information packs and saliva kits, please email our programme team with a referral using our referral form. Please make sure to fill in as much detail as possible, including the type of breast cancer identified, and the hormone receptor status.
- Once we receive your referral, we register the patient on our system. We then wait for the patient to return their personal details form, signed genetic test consent form, and their saliva sample. We will inform your local breast CNS champion if we haven’t received a saliva and consent form within 4 weeks.
- We then send the sample to the Centre for Molecular Pathology genetic diagnostic laboratory at the Royal Marsden for genetic testing. Once the lab has the patient’s saliva sample, the results should take around 6-12 weeks.
- All patients will receive their results letter by post, with anyone found to have a pathogenic variant in one of the seven genes also being booked for an appointment with our programme genetic counsellors for within a week.
- The genetic counsellors will make direct referrals to the patient’s local clinical genetics service for further genetic counselling follow up and copy you into summary letters of their positive result appointments.
Across the entire programme pathway, patients have direct access to the programme genetic counsellors for any information or support needs relating to genetic testing, or for queries with technical or procedural aspects of the programme via our genetic helpline on 020 3437 6514.
- Our helpline is staffed Monday to Friday 9am to 5pm and with extended hours to 7pm on Wednesdays. Please also signpost patients to this website, where there is an information video, a helpful video guide on how to complete the forms and provide a saliva sample, and links to other resources.