Identifying genetically predisposed women with breast cancer who could benefit from risk assessment and genetic counseling is an important competency for oncology nurses. However, a recent study published in the Journal of Clinical Oncology (JCO) reported that fewer than 50% of newly diagnosed patients with breast cancer who should have been given formal genetic counseling actually received the appropriate genetic testing.

Only 43.5% of the 1,711 patients with early-stage breast cancer in the study who had a personal and/or family history suggestive of germline hereditary predisposition received formal genetic risk counseling. Only 31.1% had a discussion with their physician about their genetic risk, and only 25.4%—just more than one-fourth of the sample—had no discussion with their healthcare providers about possible genetic risk. Patients who were never referred for genetic risk assessment and possible genetic testing potentially missed a powerful opportunity for cancer prevention and early detection for themselves and other family members.

Recent estimates suggest that approximately one-third of patients with breast cancer may harbor a susceptible mutation based on personal history, breast cancer tumor characteristics, and family history.   This could include mutations for the commonly known BRCA1 and 2 mutations. However, many other, less commonly known and understood mutations can be identified on multigene cancer panels for patients.

Selecting the correct genetic test requires a comprehensive assessment of a patient’s family tree, as well as other clinical factors, and it’s best performed by a credentialed genetics professionals. Genetics professionals have the training and expertise to identify the right test for patients; counsel them on the risks, benefits, and limitations of testing; help them understand the results; recommended next steps; and coordinate care for other family members at potentially increased risk for developing malignancies.

The study has many implications for oncology nurses. Those caring for newly diagnosed individuals with breast cancer need to be aware of common indications for testing:

  • Age younger than 50 years old
  • Triple-negative breast cancer diagnosed before age 60
  • Multiple family members with breast, ovarian, colon, melanoma, pancreatic, or prostate cancer
  • Families with known hereditary predisposition mutation
  • Individuals worried about hereditary risk

Genetic testing can help individuals understand and make important surgical decisions related to their health. Patients with known mutations may want to consider preventive, risk-reducing surgeries. Depending on the results, those with metastatic breast cancer may want to consider poly ADP-ribose polymerase (PARP) inhibitor therapy.

Many patients with previously diagnosed breast cancer might also benefit from genetic testing, but they haven’t explored it or have had limited genetic testing in the past. The American Cancer Society estimates at least 3.5 million women in the United States are living after breast cancer. Nurse navigators and oncology nurses supporting these survivors should assess whether they are candidates for future genetic testing—not just for the patients’ well-being but for their family members and relatives as well.

It’s clear that more work needs to be done when talking to patients about genetic testing. It begins with skills every nurse learned at the very beginning of their nursing studies: assess personal and family history. However, the assessment isn’t enough; it takes expert oncology nurses to make those referrals, explain why genetic testing can potentially save lives, and provide the necessary follow-up for excellent quality care.

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