In January 2024, the American Society of Clinical Oncology (ASCO) in conjunction with the Society of Surgical Oncology released new guidelines for germline testing in patients with breast cancer, which include the following:
- Offer BRCA1/2 testing to all patients diagnosed with breast cancer at or below age 65.
- For those getting BRCA1/2 testing, testing for other hereditary cancer genes should also be offered based on their personal or family history.
- Testing for other HIGH penetrance genes, such as PALB2, TP53, PTEN, STK11, and CDH1 should be offered to appropriate patients, as mutations in these genes could inform medical treatment, influence surgical decision making, refine estimates of second primary cancer risks, and inform family risk assessment.
- Testing for MODERATE penetrance genes, such as ATM, CHEK2, RAD51C, RAD51D, and BARD1, may be offered to appropriate patients who are undergoing BRCA1/2 testing. While mutations in these genes may inform risks of second primary cancer or family risk assessment, they currently offer no treatment benefits for breast cancer patients.
- When deciding on which specific multigene panel test to order, providers should take the patient’s personal and family history into account. Consequently, a provider experienced in clinical cancer genetics can be helpful in selecting a specific panel or interpreting results. Furthermore, the patient should be provided with sufficient information before testing is ordered, in order for them to provide INFORMED CONSENT for testing.
- Individuals with POSITIVE test results should be given individualized post-test genetic counseling and offered a referral to a provider experienced in clinical cancer genetics.
- Individuals with a Variant of Uncertain Significance (VUS) test result should be advised that the result should not alter management. Additionally, patients should be made aware that VUS results may be reclassified in the future and there is a need for periodic follow-up.
- Individuals with NEGATIVE test results may still benefit from genetic counseling if there is a significant family history of cancer. If this is the case, referral to a provider experienced in clinical cancer genetics is recommended.
For a full list of recommendations in this guideline, the article is available at: https://ascopubs.org/doi/10.1200/JCO.23.02225
Bedrosian, et al. J Clin Oncol. 2024;42(5):584-604. PMID:38175972. Social media post Jan 5th, 2024. Available at https://tinyurl.com/post1524.