Looking at the Real-World Effects of Genetic Testing

A Conversation With Joanne Armstrong, MD, MPH

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Joanne Armstrong, MD, MPH

We found that the major reason women did not receive genetic counseling was because it was not recommended to them by their physician.

—Joanne Armstrong, MD, MPH

According to the most recent estimates, 55% to 65% of women who inherit the BRCA1 mutation and about 45% of women who inherit the BRCA2 mutation will develop breast cancer by the time they are 70 years old. There is also a substantial increase in the probability of developing ovarian cancers in women who inherit the BRCA mutations. And although genetic testing is having a substantial effect on public health, little is known about the experiences of the more than 100,000 Americans undergoing such testing annually.

To bring insight into the real-world results of genetic testing, The ASCO Post spoke with Joanne Armstrong, MD, MPH, Senior Medical Director and Head of Women’s Health for Aetna. She is a lead researcher of a recent study on the outcomes of BRCA testing.1 

The ABOUT Study

Please describe the design and main objectives of the American BRCA Outcomes and Utilization of Testing (ABOUT) study.

The ABOUT study evaluates the factors associated with the use of genetic counseling and testing services for hereditary breast and ovarian cancers that takes place in the community setting. The study design is a survey of commercially insured women whose physicians ordered BRCA testing over a 1-year period.

The goals of the study were to identify the factors associated with the use of BRCA testing and genetic counseling services and to evaluate to what extent counseling and testing services adhere to guidelines.

Acceptance of Genetic Counseling

From this study, is it possible to get a sense of women’s acceptance and desire for genetic testing?

Our study found that women’s acceptance of genetic counseling was high. We found that women who underwent genetic counseling prior to BRCA testing report improved patient knowledge and understanding about the role of genetics in cancer predisposition; how BRCA test information informs cancer risk for themselves and their families; and what strategies are available to reduce their risk. The study also found that women who receive genetic counseling prior to testing are more likely to meet testing guidelines and report greater satisfaction with the counseling and testing process.

Testing on the Rise

As a public health issue, are BRCA testing and counseling gaining traction in mainstream clinical practice?

Estimates of the use of genetic counseling and testing are difficult to ascertain. As it relates to the use of genetic counseling, our study found that only 36.8% of women received formal genetic counseling prior to testing. This is especially disappointing because it is recommended by health agencies and medical professional organizations including the U.S. Preventive Services Task Force.

Regarding your question about the amount of BRCA testing performed in the United States, it is estimated that more than 100,000 BRCA tests are ordered each year. We have seen an increase of between 5% and 10% in requests for testing over the past few years, according to Aetna data.

2013 USPSTF Cancer Screening Recommendation

■ The U.S. Preventive Services Task Force (USPSTF) recommends that primary care providers screen women who have family members with breast, ovarian, tubal, or peritoneal cancer with one of several screening tools designed to identify a family history that may be associated with an increased risk of potentially harmful mutations in breast susceptibility genes (BRCA1 or BRCA2). Women with positive screening results should receive genetic counseling and, if indicated, BRCA testing.

Educating Patients and Physicians

What do you feel is a necessary step in promoting the widespread use of genetic testing?

We need to do better job educating women about the availability of trained genetics counselors and the value they bring to support cancer risk assessment, education, and risk-reduction strategies. This is critical to ensuring that women are well informed about the value of the test in their own medical circumstances. We found that the major reason women did not receive genetic counseling was because it was not recommended to them by their physician. Further, the extent of nonuse of genetic counseling varied by the specialty type of the physician ordering the BRCA test.

For example, only 12% of women who had their BRCA testing ordered by their obstetrician/gynecologist received counseling before BRCA testing, compared with 36% for all physician types combined. Increasing awareness of ordering physicians about the importance and availability of genetic counseling represents an immediate opportunity to improve the care of these patients.  

Risk-Reducing Surgeries

Do we know the relationship between BRCA testing and prophylactic mastectomy?

There are not a lot data on the rate of risk-reduction surgeries (mastectomies and bilateral oophorectomies) in women who are tested and women with positive test results. In a 2009 review of 272 women who carry a BRCA mutation, 23% chose a risk-reduction mastectomy, and 51% chose risk-reduction oophorectomy following testing. Among BRCA carriers who chose these procedures, median time to both risk-reducing mastectomy and risk-reducing salpingo-oophorectomy was approximately 4 months after learning of BRCA-positive results.2

The ABOUT study did not look at the clinical outcomes following genetic testing. We are participating in a 5-year longitudinal study of the clinical outcomes for women who undergo BRCA testing and who have breast cancer.

Final Comments

Any last thoughts on this important issue? 

This study points out an important gap in care of women at risk for inherited breast and ovarian cancers. It found that the majority of women who are recommended for testing by their physicians do not receive genetic counseling, despite the guidelines of multiple medical professional societies and health agencies.

Consequently, women who are not counseled are less prepared to make an informed decision about testing and, perhaps, use the test results optimally. Multiple studies have found that nongenetics clinicians have low self-reported rates of genetics competency. We need to do a better job of supporting women in the receipt of these complex health care services. ■

Disclosure: Dr. Armstrong reported no potential conflicts of interest.


  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. JAMA Oncol 1:1251-1260, 2015.
  2. Beattie MS, Crawford B, Lin F, et al: Uptake, time course, and predictors of risk-reducing surgeries in BRCA carriers. Genet Test Mol Biomarkers 13:51-56, 2009.