BRCA testing has been used to inform treatment decisions in ovarian cancer and is now becoming more prominent in informing therapeutic options for patients. As the availability of therapeutic options for ovarian 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.
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, including medical oncologists, surgeons, nurses and palliative care specialists among others, who share their knowledge and recommendations to make informed treatment decisions.
Each specialist in the MDT plays a specific role in helping reduce testing times in an approach known as the oncogenetic pathway. 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. Traditionally, patients have been referred to a genetic counsellor for BRCA testing. However, in more recent expedited models, such as the mainstreaming oncogenetic model, specialists (e.g. oncologists, surgeons, or nurses) within the oncogenetic pathway are trained to counsel patients, obtain consent and authorise testing during their patients’ routine cancer clinic appointments.2-4
Expedited counselling pathways may also consider alternatives to face-to-face, such as telephone-based models, 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 were found but that the patient may have another mutation that was not tested for
Inconclusive
- 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 a genetics follow-up will be offered to patients with a mutation or to those patients who request one. This expedited provision of consent is achieved by avoiding the delays associated with patients being referred from their regular cancer clinic appointments to separate genetics departments for testing.3,10
Streamlining BRCA counselling by implementing mainstreaming in women’s cancer BRCA testing.
DR ZOE KEMP AND DR ANGELA GEORGE
(47:24)
The oncogenetic pathway has proven to be a success for patients with ovarian cancer5
To find out more about consenting patients, visit the following resources:
BRCA, breast cancer gene; ESMO, European Society for Medical Oncology; HCP, healthcare professional; MDT, multidisciplinary team; OC, ovarian cancer.
References:
- Wallace A. Eur J Hum Genet. 2016: 24(Suppl 1); S10-S18.
- Hoogerbrugge and Jongmans. Eur J of Human Genet. 2016; 24: S19-S26.
- George A et al. Sci Rep. 2016: 6; 29506.
- Neviere Z et al. Ther Adv in Med Oncol. 2020; 12.
- MCG. Royal Marsden Mainstreaming Program: East. Available at: http://www.mcgprogramme.com/. [Accessed March 2021].
- Høberg-Vetti H et al. Eur J Hum Genet. 2016; 24: 881-888.
- Schwartz MD et al. J Clin Oncol. 2014; 32: 618-626.
- Sie AS et al. BMC Womens Health. 2012; 12: 12.
- MD Anderson Cancer Center: About the MAGENTA Study. Available at:
https://magenta.mdanderson.org/ [Accessed March 2021]. - Hallowell N et al. Fam Cancer. 2019; 18: 293-301.
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Traditional model:
A method involving pre-test face-to-face genetic counselling, followed by a BRCA test and the discussion of results.
- Face-to-face genetic 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 genetic counsellor.
- Patients who undergo testing are seen for a number of counselling sessions prior to their test results being disclosed.
- If a pathogenic mutation is found, genetic counselling is then offered to the patient’s family and others involved.
DNA-direct/Telephone-based genetic counselling models
A telephone-based genetic counselling model for patients with 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 genetic counselling to take place in a patient’s normal cancer clinic appointments.
- Patient with ovarian or breast cancer is provided with information on BRCA testing, and discusses the prospect of a test with an approved clinician (who may not be a geneticist).
- The clinician obtains consent and adds it to the patient’s record.
- The BRCA test is carried out.
- The clinician is provided with the results.
- 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, unless they have a strong family history.