How can genetic counselling be streamlined by the multidisciplinary team?
IN THIS ARTICLE
It is well established that individuals carrying a germline BRCA1 or BRCA2 pathogenic mutation have an elevated lifetime risk of developing ovarian cancer or breast cancer, those who are confirmed as carrying a germline BRCA pathogenic mutation can then take appropriate action in order to prevent cancer or have cancer diagnosed as early as possible for better treatment options.1
In many countries, genetic counselling before BRCA testing is carried out face-to-face by a qualified genetic counsellor or a clinical geneticist. Germline BRCA testing without prior face-to-face genetic counselling could be considered for selected patients who are adequately informed by their oncologist together with telephone, digital, or written information from a clinical geneticist.1
Change to:
There is a general consensus that after a positive BRCA test result or in cases of highly suggestive family history of hereditary cancer, face-to-face counselling with a clinical geneticist is important in order to discuss the consequences of the results for the patient and other family members, as well as to explain complex test results and other hereditary causes of cancer.1
The content and timing of genetic counselling is likely to change in the future, as models of genetic counselling evolve, a multidisciplinary team of professionals, including clinical geneticists, gynaecologists, surgeons, radiotherapists, and medical oncologists will be increasingly involved in the process.1
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 specialties 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.”2
The mainstream pathway greatly reduces the time, appointments, and cost of gene testing compared to the conventional pathway.3
Depending on the results of the genetic test, a genetic counsellor or alternative HCP (model-dependent) will discuss a patient’s options:1
A positive test result4
- Positive indicates that a person has inherited a known harmful variant in BRCA1 or BRCA2 (these are typically called “pathogenic” or “likely pathogenic” variants on laboratory test reports) and has an increased risk of developing certain cancers the information about their mutation may be important for selecting treatment.
- A positive test result may also have important implications for family members, including future generations.
A negative test result:4
- Without testing family members who have had cancer, it is uncertain whether the negative test means that the person did not inherit a BRCA1 or BRCA2 mutation that is present in the family or whether the family history might be due to a mutation in another gene that was not tested or to other, nongenetic risk factors.
- The individual may have a harmful variant that is not detectable by current testing technologies.
A Variant of Uncertain Significance (VUS) result:4
- Sometimes, a genetic test finds a change in BRCA1 BRCA2 that has not been previously associated with cancer and is uncommon in the general population.
- Genetic counseling can help a person understand what a VUS may mean in terms of their BRCA1 BRCA2 cancer risk.
The mainstreaming oncogenetic pathway
Mainstreaming is an implementation of genetic/genomic testing in oncology, to aid diagnosis and/or treatment, offers the promise of streamlined pathways and tailored treatment for individual patients.5
The advantages of mainstreaming in oncology particularly just having control of that pathway and saving time.5
ABC, advanced breast cancer; BRCA, breast cancer gene; ESMO, European Society for Medical Oncology; HCP, healthcare professional; MDT, multidisciplinary team.
References:
- Hoogerbrugge and Jongmans. Finding all BRCA pathogenic mutation carriers: best practice models. Eur J of Human Genet. 2016; 24: S19-S26.
- Cardoso F et al. 4th ESO–ESMO International Consensus Guidelines for Advanced Breast Cancer (ABC 4)†. Ann Oncol. 2018: 29; 1634-1657.1634-1657.
- George A et al. Implementing rapid, robust, cost-effective, patient-centered, routine genetic testing in ovarian cancer patients. Sci Rep. 2016: 6; 29506.
- BRCA Gene Mutations: Cancer Risk and Genetic Testing Fact Sheet - NCI. Available at: https://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet Last Accessed May 2022.
- Hallowell, N et al. Moving into the mainstream: healthcare professionals’ views of implementing treatment focussed genetic testing in breast cancer care. Fam Cancer. 2019; 18: 293-301.
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Traditional model:
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.