Young breast cancer patients run to genetic testing, make proactive choices

The authors of a study published online in JAMA Oncology Feb. 11 are drawing from their “Angelina effect”-supporting data to urge physicians to follow National Comprehensive Cancer Network guidelines by recommending genetic testing and counseling for all breast-cancer patients 50 and younger.

Analyzing data collected between 2006 and 2014, Shoshana Rosenberg, ScD, MP, of the Dana-Farber Cancer Institute and colleagues found that rates of testing for the BRCA1 and BRCA2 cancer-susceptibility mutation are indeed on the rise in young women with breast cancer.

Meanwhile—consistent with earlier reports of increases in awareness following actress Angelina Jolie’s highly publicized 2013 decision to undergo prophylactic bilateral mastectomy—many patients are using their results to inform their care-path decisions going forward.

In fact, perhaps reflecting a better-safe-than-sorry mindset, the findings show a significant number of women who carry neither BRCA1 nor BRCA2 opting to have both breasts removed.

The researchers looked at 897 women 40 and younger who had breast cancer and were treated at 11 academic and community medical centers. Of these, some 780 (87 percent) reported BRCA testing within one year after their diagnosis.

As for growth over time, the testing rates jumped from a low of 70.2 percent of breast-cancer patients in 2007 to an eye-popping 95.3 percent in 2013.

Other notable findings from the study:

  • Among the 117 untested women, 37 (31.6 percent) did not report discussing the possibility they may have a mutation with their physician or genetic counselor, and 43 (36.8 percent) of the 117 women were thinking of future testing.
  • A total of 248 (29.8 percent) of 831 patients who were tested and reported a positive or negative result reported that knowledge or concern about the genetic risk of breast cancer influenced their treatment in some way.
  • Most of the BRCA carriers in the tested-and-influenced group (76 of 88, or 86.4 percent) opted for double mastectomy—and so did 82 of 160 noncarriers (51.2 percent).
  • Carriers of a mutation also were more likely to have undergone a salpingo-oophorectomy (ovary removal) than noncarriers.

In their discussion section, the authors acknowledge the presence of a possible Angelina effect near the end of the study period, but they cite as a primary factor in the increased BRCA testing the fact that most women in their sample were insured, educated and treated at cancer centers where high-quality genetic testing and counseling were readily available.

In a JAMA audio interview, co-author Ann Partridge, MD, MPH, amplifies the need for proactive involvement by physicians and other members of the breast cancer care team.  

“It is imperative that we not only help women to get this information,” Partridge says, “but also that we counsel them and help to support them as they make these treatment decisions—especially in the context of a newly diagnosed patient who is stressed and anxious. [That patient] needs to have good communication with her providers and good support.”

This edition of JAMA Oncology also includes commentary on the study by three researchers at City of Hope, the cancer-focused academic medical center in Duarte, Calif.

Rosenberg et al. “note the need to explain the practical purpose for genetic testing at the time of a new breast cancer diagnosis and address patient concerns,” write Kathleen Blazer, EdD; Thomas Slavin, MD; and Jeffrey Weitzel, MD. “These issues are most consistently addressed as an essential component of pretest counseling when conducted by clinicians with expertise in genetic cancer risk assessment (GCRA).”

“Comprehensive GCRA,” they add, “also addresses the challenges of conveying complex, uncertain or uninformative test results in a way that reduces confusion and uncertainty about risk management decision-making.”