Genetic counselors are an integral part of the medical team and can play a valuable role in supporting patients with illnesses such as cancer. Genetic counselors are trained not only in the scientific aspect of medicine, but also in the psychosocial aspect, allowing them to counsel patients at a difficult time.
A study published recently in the Journal of Clinical Oncology found that while many patients with breast cancer may be tested, they don’t ever see a genetic counselor to discuss the test results and their implications.1 This lack of access can limit the women’s understanding of the results and their treatment options. In fact, many women may be undergoing bilateral mastectomies based on genetic test results, which may not be necessary.
Researchers from California, Michigan, Georgia, and New York sought to determine patterns, correlates, and timing of genetic counseling and testing, among women newly diagnosed with breast cancer, and the impact of these results on surgical decisions. The researchers also examined attending surgeons’ perspectives and attitudes about integrating testing into treatment decision-making.
A total of 666 women who were diagnosed in 2014 and 2015 were included in the study. Women who were unable to complete the questionnaire in English or Spanish, had stage III or IV disease, had bilateral cancer, or had no genetic testing were not included in the study. The patients completed surveys approximately 2 months following their surgery; 98% of the women included their surgeon’s name. These surgeons were then also sent a survey; 377 surgeons responded.
The patients were asked about:
- Who ordered the genetic test;
- Who discussed results with them;
- Discussions with any health professional;
- Counseling with a genetic counseling expert;
- Test timing (before diagnosis, after diagnosis but before surgery, or after surgery); and
- Results: no mutations; a mutation in a gene (BRCA1, BRCA2, or another) that increases the risk of breast cancer; a mutation in a gene (BRCA1, BRCA2, or another) but not one that is known to increase the risk of breast cancer, sometimes called a VUS (variants of uncertain significance); other or unknown.
- Surgical procedures; race or ethnicity; Family history of breast, ovarian, and other cancers;
- Ashkenazi Jewish ancestry;
- Insurance coverage;
- Education; and
- Household income.
The results showed that although two-thirds of patients were tested before surgical treatment, patients without private insurance more often experienced delays. Only half of these patients (57% at higher pretest risk, 42% at average risk) discussed results with a genetic counselor.
Women who had pathogenic mutations in BRCA1/2 or another gene had the highest rates of bilateral mastectomy (BLM). According to the authors, surgeons’ confidence in discussing testing increased with volume of patients with breast cancer, but many surgeons managed patients with BRCA1/2 VUS the same as patients with BRCA1/2 pathogenic mutations.
The surgeons’ responses revealed that most had a lower volume of patients:
- Thirty-eight percent had a lower volume of patients (one to 20 patients with breast cancer in prior year);
- Thirty perent had a moderate volume (21 to 50 patients); and
- Twenty-nine percent had a higher volume (more than 51 patients)
- Three percent had missing data.
Surgeons most confident in discussing testing were those with higher volume (73% vs 35%) and up to one-third of surgeons rarely referred patients for genetic counseling and ordered testing without referral.
Only 17% of higher-volume surgeons and 38% of lower-volume surgeons reported they never delayed surgery for test results. Forty-three percent of higher-volume surgeons, 25% of moderate-volume surgeons, and 36% of lower-volume surgeons offered breast-conserving therapy to some BRCA1/2 mutation carriers. Half of lower-volume surgeons and one-quarter of higher-volume surgeons reported managing patients with BRCA1/2 VUS the same way as BRCA1/2 mutation carriers, the authors wrote.
“Our findings suggest a limited understanding among physicians and patients of the meaning of genetic testing results,” lead author Allison Kurian, MD, said in a release. “Clinical practice guidelines state that variants of uncertain significance should not be considered to confer high cancer risk, and that patients with these variants should be counseled similarly to a patient whose genetic test is normal. However, many of the physicians surveyed in our study stated that they manage these patients in the same way as they do patients with mutations known to increase a woman’s risk.”2 Kurian is an associate professor of medicine and of health research and policy at Stanford University.
“We’re learning that clinicians’ knowledge of breast cancer genetics can be highly variable,” Kurian added. “It’s important for women at high risk of carrying a dangerous mutation to see someone with expertise in cancer genetics when planning their care. Unfortunately, in many cases genetic counselors may not be optimally integrated into the care of newly diagnosed cancer patients, making it difficult to rapidly triage these patients. Our study highlights the urgent need for improved patient access to cancer genetics experts, particularly genetic counselors, and for educating physicians about the appropriate use of genetic testing and interpretation of test results.”
- Kurian AW, Li Y, Hamilton AS, et al. Gaps in Incorporating Germline Genetic Testing Into Treatment Decision-Making for Early-Stage Breast Cancer. J Clin Oncol. 2017 Apr 12:JCO2016716480.
- Conger K. Physicians’ misunderstanding of genetic test results may hamper mastectomy decisions for breast cancer patients. Stanford Medicine. 2017 Apr 12.