BRCA testing has been used to inform treatment decisions in breast cancer and is now becoming more prominent in informing therapeutic options for patients. As the availability of therapeutic options for breast cancer have increased over the years, there is a greater demand for earlier BRCA testing among patients.1,2
Traditional models of genetic counselling may use appointments to both obtain patient consent for BRCA testing and to discuss potential test implications in certain countries. It can be challenging however, to accommodate for the resources needed for genetic counselling within the reduced turnaround time required when the purpose of the test is to inform treatment decisions.2 This greater demand for testing may lead to further delays in accessing the relevant genetic or telegenetic counsellors, as well as physician-directed discussions in order to advise patients appropriately.
Moving forward, new approaches are being put in place to attempt to balance these considerations by streamlining the testing pathway and/or using alternatives to face-to-face counselling.2
One way the testing can be streamlined is by utilising the multidisciplinary team (MDT). The MDT play an important role in turnaround time for testing, bringing together a range of professionals who share their knowledge and recommendations to make informed treatment decisions.
The ABC 4/ESMO advanced breast cancer (ABC) guidelines directly address the importance of the MDT:
“The management of ABC is complex and, therefore, involvement of all appropriate specialities in a multidisciplinary team (including but not restricted to medical, radiation, surgical oncologists, imaging experts, pathologists, gynaecologists, psycho-oncologists, social workers, nurses and palliative care specialists), is crucial.” 3
Each specialist in the MDT plays a specific role in helping reduce testing times in an approach known as the oncogenetic pathway. Rather than the traditional approach of referring to a genetic counsellor for BRCA testing, oncologists in the oncogenetic pathway are trained to counsel patients, obtain consent and authorise testing during their patients’ routine cancer clinic appointments. In this pathway, the referral for a genetics appointment is offered to any patients who are found to carry a BRCA mutation, or is made available to any patient who requests it.4,5
The oncogenetic pathway involves an expedited BRCA testing process, providing patients with counselling, regarding both the testing process and the implication of test results for themselves and their families. It will also consider methods of expedited counselling as an alternative to face-to-face, to address the need for a faster BRCA testing turn-around-time whilst still providing the counselling required for the patient and their family.2,6-9
Depending on the results of the genetic test, a genetic counsellor or alternative HCP (model-dependent) will discuss a patient’s options:2
Positive for a mutation that was tested for
- This can affect a patient’s treatment options, as some treatments have a greater chance of being more effective in the presence of certain mutations
- This indicates that other members of a patient’s family may be at risk, and these mutations can be passed on to offspring
Negative for the mutations tested for
- The counsellor will discuss that none of the mutations tested for can increase the risk of breast cancer. However, these results do not guarantee a lower risk – the patient may have another mutation that was not initially tested for
- In some cases, the test may not be able to tell whether a patient has a mutation or not. The counsellor will discuss a patient’s options in this scenario
- The test found a gene variant, but it is not clear if this change affects the risk of cancer. The counsellor will discuss a patient’s options in this scenario
The mainstreaming oncogenetic pathway
One way to expedite the counselling process is to use the oncogenetic pathway, incorporating it into and involving the MDT. The traditional pathway offers genetics appointments to all patients with cancer for testing, increasing the time and resources required.
By mainstreaming the oncogenetic pathway, BRCA testing can be completed at patients’ existing cancer clinic appointments, and only patients with a mutation will be offered a genetics follow-up. This expedited provision of counselling is achieved by avoiding the delays associated with patients being referred from their regular cancer clinic appointments to separate genetics departments for testing.4,10
Streamlining BRCA counselling by implementing mainstreaming in women’s cancer BRCA testing.
DR ZOE KEMP AND DR ANGELA GEORGE
ABC, advanced breast cancer; BRCA, breast cancer gene; ESMO, European Society for Medical Oncology; HCP, healthcare professional; MDT, multidisciplinary team
- Wallace A. Eur J Hum Genet. 2016: 24(Suppl 1); S10-S18.
- Hoogerbrugge and Jongmans. Eur J of Human Genet. 2016; 24: S19-S26.
- Cardoso F et al. Ann Oncol. 2018: 29; 1634-1657.
- George A et al. Sci Rep. 2016: 6; 29506.
- MCG. Royal Marsden Mainstreaming Program: Available at: http://www.mcgprogramme.com/. [Accessed February 2021]
- Høberg-Vetti et al. Eur J Hum Genet. 2016; 24: 881-888.
- Schwartz et al. J Clin Oncol. 2014; 32: 618-26.
- Sie et al. BMC Womens Health. 2012; 12: 12.
- MD Anderson Cancer Center: About the MAGENTA Study. Available at:
https://magenta.mdanderson.org/ [Accessed February 2021]
- Hallowell, N et al. Fam Cancer. 2019; 18: 293-301.
A method involving pre-test face-to-face counselling, followed by a BRCA test and the discussion of results.
- Face-to-face counselling prior to a BRCA test, providing patients with advance consideration of medical options, and the impact test results may have.
- BRCA test is offered, and patient provides informed consent after speaking to a counsellor.
- Patients who undergo testing are seen for 2-4 counselling session, spread across three months, prior to their test results being disclosed.
- If a pathogenic mutation is found, counselling is then offered to the patient’s family and others involved.
DNA-direct/Telephone-based counselling models
A telephone-based counselling model for patients with breast cancer, replacing the initial appointment with a telephone call.
- Initial telephone consultation, providing patients with information about the BRCA test, and the implications of different results.
- The patient is provided with test-related information both digitally and in writing, prior to giving consent for a BRCA test.
- Once the patient provides consent, the BRCA test is carried out. It is after this test that a face-to-face consultation is offered to disclose and discuss the results.
Mainstreaming oncogenetic model
A new mainstreaming model for testing, allowing initial counselling to take place in a patient’s normal cancer clinic appointments.
- Patient with ovarian or breast cancer is provided with an information sheet for BRCA testing, and discusses the prospect of a test with an approved clinician (who may not be a geneticist).
- The clinician obtains consent and scans this into the patient’s record.
- The BRCA test is carried out.
- The clinician is provided with the results within 8 weeks.
- If the patient is found to have a pathogenic mutation, they are referred for a genetics appointment to discuss the results.
- If the patient does not have a pathogenic mutation, a genetics appointment may only be offered on request.