Almost one-third of surgeons admit that they rarely referred patients with early-stage breast cancer for genetic counseling prior to mastectomy, according to results of a recent survey.
Genetic testing has become more prominent in breast cancer than in any other cancer setting. Practice guidelines have reinforced an increase in testing use in this population. However, limited research has examined the context of such testing, the patient experience, or its impact on treatment.
Allison Kurian, MD, School of Medicine, Stanford University (CA), and colleagues surveyed a population-based sample of patients with breast cancer diagnosed in 2014 to 2015 about their genetic testing experience. A total of 3672 patients were surveyed, 68% of whom responded. Researchers designated a patient subgroup at higher pretest risk of mutation carriage based on genetic testing guidelines. Additionally, the attending surgeons were surveyed about genetic testing and results management.
Researchers assessed for patterns and correlations of genetic counseling, testing, and the impact of results on mastectomy. The study was published in Journal of Clinical Oncology (July 2017;35:2232-2239).
Results of the survey suggested that approximately one-third of surgeons rarely referred patients for genetic counseling, with only 73% of high-volume surgeons and 35% of lower-volume surgeons admitted to feeling confident about discussing genetic test results with their patients. Seventeen percent of high-volume surgeons and 38% of lower-volume surgeons never delayed surgery for genetic testing or results.
Twenty-seven percent of patients who demonstrated high-risk variants of BRCA1 or BRCA2 genes—along with one-third of patients at average risk—did not receive genetic testing until after surgery.
Researchers also found that 50% of lower-volume surgeons and 25% of high-volume surgeons managed patients with known high-risk BRCA1/2 mutations similarly to those patients with genetic variants of uncertain significance.
"This study offers a unique window into a transformative period for precision medicine and the challenge of implementing advances in genomic technology into breast cancer treatment," authors of the study concluded. "Effective genetic testing requires clinicians to assess pretest risk, counsel patients on testing implications, order an appropriate test, communicate results, and develop an appropriate management plan.”—Zachary Bessette