Expanding Genetic Testing in Oncology Through Specified Characteristics

A recent update to the guidelines for genetic testing includes a referral for patients with a breast cancer diagnosis or if they are survivors. Brittany Bychkovsky, MD, MSc, spoke with CancerNetwork to further discuss these new recommendations, as well as expand upon the process of genetic testing.

The recommendations from the American Society of Clinical Oncology (ASCO), in conjunction with the Society of Surgical Oncology, includes:

• All patients with newly diagnosed breast cancer with stage I to III or de novo stage IV or metastatic disease who are 65 years or older should be offered BRCA1/2 testing
• Patients who undergo BRCA1/2 testing should be offered testing for other cancer types if suggested by their family history
• If patients are 65 years or younger with a personal history of breast cancer and are without active disease, they should be offered BRCA1/2 testing if this will help them make informed decisions for themselves or their families
• All breast cancer survivors without active disease are candidates for hereditary cancer genetic testing if it would inform personal or family risk

Bychkovsky, an assistant professor of medicine at Harvard Medical School, and a senior physician at Dana-Farber Cancer Institute, also highlighted how a patient’s family ancestry may play a role in if they are genetically tested.

Transcript:

One thing that has happened in genetic testing is, in the past, we emphasized a family history of breast cancer or personal factors, like a diagnosis of triple-negative breast cancer at a young age, or a diagnosis of breast cancer prior to age 45. We’ve also emphasized certain ancestries, and now since January, there were new guidelines that came out from ASCO, and the Society of Surgical Oncology, that emphasize that all patients with a breast cancer diagnosis and any breast cancer survivors are candidates for genetic testing. We have migrated from very prescriptive recommendations to testing patients more broadly, who have a breast cancer diagnosis.

I would also say that not only are we testing more patients with breast cancer, but we’re also testing more patients with pancreatic cancer, prostate cancer, and those with a sarcoma diagnosis. The trend that’s happening in cancer genetics is we’re offering testing for more individuals with a cancer diagnosis. If they’re identified to have a cancer susceptibility gene, then we are doing cascade testing and targeting their biological family members for testing when it’s age appropriate.

Reference

Bedrosian I, Somerfield MR, Achatz MI, et al. Germline testing in patients with breast cancer: ASCO–Society of Surgical Oncology Guideline. J Clin Oncol. 2024;42(suppl 5). doi:10.1200/JCO.23.02225