mutation carriers is important, as it gives people information on their risk and changes their healthcare decisions. For many years genetic testing for increased cancer risk was expensive and not always covered by insurance, but people have many relatively affordable testing options today. In the United States, national guidelines have expanded the number of people who qualify for genetic counseling and testing under the Affordable Care Act, with no out-of-pocket costs such as copays or deductibles. People who carry BRCA
mutations have increased risk for developing breast and ovarian cancer, but they can choose specific risk reduction strategies to reduce their risk.
The increasing availability and affordability of genetic testing has prompted researchers to ask: what are the experiences of people who undergo genetic testing?
The number of people getting genetic testing is constantly increasing—what are the characteristics of these individuals? Are they getting genetic counseling before they are tested? Is there a measureable benefit for those patients who receive genetic counseling? FORCE collaborated in the American BRCA Outcomes and Utilization of Testing (ABOUT) Study along with Joanne Armstrong, MD, MPH, from Aetna;Rebecca Sutphen, MD, Principal Investigator of the ABOUT Network; investigators from the American Cancer Society; and other colleagues. Study results, which were published in JAMA Oncology
in December 2015, provide some answers to these questions.
About 11,000 women whose healthcare providers ordered BRCA testing received the ABOUT study questionnaires; about 35% of the women completed the questionnaires. Of the respondents, about 16% did not meet testing criteria, meaning that information about their personal and/or family histories did not warrant testing according to national guidelines.
The purpose of the questionnaires was to determine:
- The women’s sociodemographic factors, such as age, race and ethnicity.
- The women’s personal and family history of cancer.
- Whether they received genetic counseling by a genetic counselor before their testing.
- How much they understood about BRCA genetics, cancer risk, and risk management strategies.
- Whether they understood and were satisfied with the information they received before testing.
Five percent of women were found to carry a BRCA
mutation. The majority of women whose healthcare providers ordered BRCA testing were white (69%), college educated (81%), and married (76%). Only 37% of the women said they received genetic counseling before they were tested. But even though only a minority of patients spoke with a genetics specialist, those who did had better understanding and more satisfaction about their BRCA genetic testing experience. This is not the only study with this result—many previous studies have shown the same increased levels of satisfaction and knowledge in patients who receive genetic counseling compared with those who do not. Among patients of different types of doctors, the patients of obstetrician/gynecologists were least likely (only 12%) to be referred to a genetic counselor.
This information is concerning, because according to the study authors, there are “clear professional society guidelines and published research that consistently document [pretest genetic counseling] importance in informed decision making and facilitating better patient outcomes.” Additionally, while obstetrician/gynecologists were least likely to recommend genetic counseling, they were more likely to order genetic testing for people who did not meet testing criteria (28% of their patients for whom they ordered BRCA testing did not meet testing criteria).
One limitation of this study is that it did not look at the healthcare providers’ perspectives—clinicians were not surveyed to understand why more women were not referred to genetic specialists. Additionally, while the study population was sizeable, only 35% of women filled out the questionnaire.
In an accompanying editorial, Dr. Steven Narod shared his opinion that with more genes being tested (most commercially available panel testing can look for mutations in 20 to 30 different genes associated with increased cancer risk), and more tests being done, “we need to find adequate alternatives to 1-on-1 counseling, and focus our attention on those with positive test results.” He said that it’s good that patients are more knowledgeable and satisfied, but we also need to know the amount of preventive measures taken by those who did have genetic counseling because, “if no preventive measures were taken by the patient, what would be the use of either counseling or testing?” The authors report that they are already pursuing the analysis of the medical decisions of the participants, so stay tuned.
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 Oncology
Narod S. “Genetic Testing for BRCA Mutations Today and Tomorrow—About the ABOUT Study
.” JAMA Oncology.