Journal: BJC reports
This publication is a narrative review focused on how to practically implement mainstream germline genetic testing for patients with breast cancer when testing is performed by non-genetics specialists (e.g., medical oncologists, surgeons).
Key points:
- Scope and purpose
- Reviews existing literature on mainstream genetic testing pathways in breast cancer.
- Aims to optimize how testing is integrated into routine oncology care while maintaining informed decision-making and patient autonomy.
- Clinical rationale for mainstream testing
- Primary driver: rapid identification of germline variants to guide systemic therapy selection (e.g., targeted treatments).
- Additional implications:
- Surgical decision-making (extent and type of breast/contralateral surgery).
- Surveillance for other organs at increased cancer risk.
- Cascade testing and risk assessment in family members.
- Challenges highlighted
- Defining which genes to include in test panels to balance clinical actionability, variant interpretation burden, and patient impact.
- Determining the appropriate depth and format of pre-test counselling when delivered by oncology teams rather than genetics professionals.
- Ensuring patients understand the potential implications for themselves and relatives, including incidental findings and variants of uncertain significance.
- Proposed implementation strategy
- An adapted pre-test counselling model tailored to oncology workflows, rather than traditional full genetics consultations for all.
- Use of:
- A web-based educational session for patients to standardize and enhance pre-test information.
- A concise “pocket guide” for oncology clinicians to support consistent, accurate communication about testing indications, benefits, limitations, and follow-up steps.
- Overall message
- Mainstream germline testing in breast cancer is feasible and valuable but must be structured thoughtfully.
- Standardized educational tools and streamlined counselling protocols are proposed to safeguard informed consent and quality of care as oncology teams take on a greater role in ordering and explaining germline tests.