What are the key indications for referring a patient for genomic testing in primary care?

Key indications for referring a patient for genomic testing in primary care include:

• Having a family history suggestive of hereditary breast cancer, such as:
• One first-degree female relative diagnosed with breast cancer under age 40.
• One first-degree male relative diagnosed with breast cancer at any age.
• One first-degree relative with bilateral breast cancer where the first primary was diagnosed under age 50.
• Two first-degree relatives, or one first-degree and one second-degree relative, diagnosed with breast cancer at any age.
• One first-degree or second-degree relative diagnosed with breast cancer and one first-degree or second-degree relative diagnosed with ovarian cancer (one must be first-degree).
• Three first-degree or second-degree relatives diagnosed with breast cancer at any age.
• Presence of additional family history features such as bilateral breast cancer, male breast cancer, ovarian cancer, Jewish ancestry, sarcoma in a relative under 45 years, glioma or childhood adrenal cortical carcinomas, complicated patterns of multiple cancers at a young age, or paternal history of breast cancer with two or more relatives on the father's side, warrant advice from secondary care genetics services.
• For ovarian cancer risk, referral is indicated if the patient has a raised probability of carrying a pathogenic variant based on verified family history, especially if a relative has confirmed breast or ovarian cancer but genetic testing of that relative is not possible.
• First-degree relatives of a person with a known pathogenic variant should be offered genetic counselling and testing (cascade testing).
• Second-degree or more distant relatives may be referred if testing of an intervening relative is not possible or appropriate.
• People from populations with higher risk of founder pathogenic variants (e.g., Ashkenazi Jewish, Sephardi Jewish, Greenlander) should be offered referral even without a personal or family history of cancer.

Referral pathways should be clear and include provision of family history questionnaires and information to support informed decision-making.