Few Women Receive Genetic Counseling Before BRCA Testing

Rebecca Sutphen, MD

Rebecca Sutphen, MD

Genetic counseling before BRCA genetic testing improves patient knowledge, understanding, and satisfaction. However, a new analysis has found that most women undergoing BRCA genetic testing did not receive counseling prior to testing, despite national guidelines and recommendations.¹

The American BRCA Outcomes and Utilization of Testing (ABOUT) Study, published online in JAMA Oncology, focused on 3874 Aetna-insured women whose clinicians ordered BRCA genetic testing between December 2011 and December 2012.

Of the 3874 women, only about 37% reported receiving professional genetic counseling in person or over the phone prior to testing. Researchers found that the most common reason for not receiving genetic counseling by a genetics clinician is lack of physician recommendation.

The lowest referral rates (12.3%) to genetic clinicians were among patients of obstetricians and gynecologists.

“Our findings that genetics clinician referrals are low among obstetrician/gynecologists is particularly concerning, especially given the high rate of tests being ordered by this clinician group for individuals with no personal cancer history and who do not meet criteria for testing,” the authors noted.

HBOC Implications

For women who meet the criteria of hereditary breast and ovarian cancer (HBOC) susceptibility, national guidelines recommend consultation with a professionally trained, board-certified genetics clinician for counseling before genetics testing.

Women with HBOC are at 24% to 86% higher risk of breast cancer and 16% to 67% higher risk of ovarian cancer.

Respondents who received genetic counseling reported greater knowledge of BRCA (mean score difference adjusted for demographics and clinician specialty, β = 0.99 [95% CI, 0.83-1.14]; P < .001), greater understanding (β = 0.47 [95% CI, 0.41-0.54]; P < .001), and satisfaction (β = 2.21 [95% CI, 1.60-2.81]; P < .001). Mutations were identified in 5% of women who received counseling.

“The ABOUT Study offers a rare opportunity to study the self-reported experiences of women undergoing testing in the community setting where most people receive their care,” Rebecca Sutphen, MD, lead author and professor of genetics at the University of South Florida Health Morsani College of Medicine, said in a statement. “Although we found that most women did not receive genetic counseling by a genetics professional, this is a gap in services that can be addressed.”

Limitations and Disparities

The national study was a collaboration with Aetna, the American Cancer Society, and the national nonprofit organization Facing Our Risk of Cancer Empowered (FORCE).

The questionnaire assessed sociodemographic factors, personal and family cancer history, and whether the individual was receiving genetic counseling as well as testing. They were also asked what type of information they received before being tested and, if applicable, the reason or reasons why they did not receive counseling.

Researchers sent questionnaires to 11,159 women whose healthcare providers requested genetic testing through Aetna, and 35% completed the surveys.

Of those who returned the questionnaires, nearly 70% were white non-Hispanic, 81.4% were college educated, almost 76% were married, and more than half (55.4%) had higher incomes.

The authors noted that the findings may not be representative of those who did not respond to the survey because findings showed significant differences in demographic characteristics between respondents and nonrespondents.

More than half of respondents (53.3%) had no personal history of breast or ovarian cancer. An estimated 43.3% had a personal history of breast cancer, only about 3% had a personal history of ovarian cancer, and 0.5% had a personal history of breast and ovarian cancer.

Questioning the Value of Genetic Counseling

In an editorial, also published online in JAMA Oncology, Steven Narod, MD, of the Women’s College Research Institute in Toronto, contended that the study may be irrelevant for future guides of genetic counseling.²

Seeing as for every 20 women counseled only one tested positive for a mutation, Norad argued that counseling for 95% of the women was ultimately inapplicable.

He notes that current guidelines for genetic counseling were written when testing was more expensive. Now that genetic testing is available for $200 to $300, Narod predicts that more people in the general population will be getting tested, possibly inflating the ratio to 100 or more negative test results for each positive.

“We cannot expect to counsel 100 women for the sake of one positive test result, so other forms of knowledge transfer (eg, print or electronic media) need to be explored,” he wrote.

Narod proposed that researchers find alternatives to one-on-one counseling and focus attention on patients with positive test results. The authors acknowledge that the most appropriate individuals to undergo genetic testing are those who have had breast, ovarian, or another related cancer because the results are more likely to be informative.

However, under the Patient Protection and Affordable Care Act, genetic counseling for HBOC is defined as a preventive service covered without out-of-pocket patient costs.

“Recently mandated coverage of genetic counseling services as a preventive service without patient cost sharing should contribute to improving clinical genetics services and associated outcomes in the future,” the authors concluded.

Lead author Joanne Armstrong, MD, senior medical director and head of Women’s Health for Aetna, said in a statement that genetic counseling in conjunction with testing is influential for individuals and future generations.

“Comprehensive genetic counseling about BRCA mutation testing is important for individuals to understand their cancer risk,” she said. “The information obtained from genetic counseling empowers individuals as well as current and future generations of their families to make informed decisions about screening, risk reduction, and treatment options.”

1. Armstrong J, Toscano M, Kotchko N, et al. Utilization and outcomes of BRCA genetic testing and counseling in a national commercially insured population: The ABOUT study [published online before print October 1, 2015]. JAMA Oncol. doi: 10.1001/jamaoncol.2015.3048.

2. Narod, S. Genetic testing for BRCA mutations today and tomorrow—About the ABOUT study. [published online before print October 1, 2015]. JAMA Oncol.