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Most women unlikely to receive genetic counseling prior to BRCA screening
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The majority of U.S. women undergoing genetic testing for BRCA mutations do not receive genetic counseling from a trained geneticist, according to study results.
Lack of physician recommendation served as the most commonly reported reason for forgoing genetic counseling, according to the researchers.
“Little is known of the experiences of Americans undergoing BRCA testing in community settings because previous research has focused almost exclusively on the small subset of individuals counseled and tested at academic medical centers,” Rebecca Sutphen, MD, professor of pediatrics and oncologic sciences at University of South Florida Morsani College of Medicine, and colleagues wrote. “At such facilities, identification of individuals at risk for hereditary breast and ovarian cancer, service delivery, information transfer, decision making, and, quite likely, health and quality-of-life outcomes differ from those in community facilities, where the majority of individuals at high risk receive their health care.”
Approximately 100,000 U.S. women undergo BRCA testing annually, according to study background.
Sutphen and colleagues conducted The American BRCA Outcomes and Utilization of Testing (ABOUT) study to identify factors associated with use of BRCA testing, assess whether delivery of genetic counseling and testing services adhered to professional guidelines, and to measure the impact on patient-reported outcomes.
Researchers analyzed data from a consecutive series of 11,159 women (median age, 48.4 years; interquartile range, 42.4-57.1) whose doctors ordered BRCA testing over the course of 1 year (December 2011-December 2012). Aetna then mailed recruitment information across the country to commercial health plan members whose doctors had ordered genetic testing.
A total of 3,874 women (34.7%) returned completed questionnaires. The researchers used deidentified clinician-reported data from all respondents and included a random sample of 2,613 non-respondents.
The analysis included data from 3,628 respondents whose doctors ordered BRCA testing. The majority of women were non–Hispanic white (n = 2,502; 69%), college educated (n = 2,953; 81.4%), married (n = 2,751; 75.8%) and had high incomes (n = 2,011; 55.4%). Fifty-three percent had no personal history of breast or ovarian cancer.
The researchers observed that 596 women (16.4%) did not meet testing criteria.
Mutations had been identified in 161 women (5.3%) who received comprehensive testing.
Prior to testing, 36.8% (n = 1,334) of women received genetic counseling from a genetics clinician. The lowest counseling rates (n = 130; 12.3%) occurred amongst patients of obstetricians/gynecologists.
The most common reason for forgoing genetic counseling was a lack of clinician recommendation.
Women who received genetic counseling exhibited greater knowledge about BRCA (ß = 0.99; 95% CI, 0.83-1.14), as well as greater understanding of (ß = 0.47; 95% CI, 0.41-0.54) and satisfaction with (ß = 2.21; 95% CI, 1.6-2.81) the information they received.
“Those who reported receiving genetic counseling from a genetics clinician were also more satisfied than those who did not across all measured parameters,” Sutphen and colleagues wrote. “[These included] whether their genetics counselor ‘explained things clearly,’ ‘listened to what I had to say,’ ‘used language I understood,’ ‘provided new information,’ ‘really understood my concerns,’ ‘cares for me,’ ‘lessened my worries,’ and ‘helped me cope better.’”
Study limitations included the researchers’ inability to directly survey clinicians in order to obtain additional information regarding referral patterns, the low response rate and the potential for selection bias due to the statistically significant demographic characteristics of respondents vs. non-respondents.
“These findings demonstrate important gaps in clinical genetic services,” the researchers wrote. “Recently mandated coverage of genetic counseling services as a preventive service without patient cost sharing should contribute to improving clinical genetic services and associated outcomes in the future.”
Advancements made in genetic understanding may render pretest genetic counseling antiquated and irrelevant, Steven Narod, MD, FRCPC, FRSC, senior scientist at Women’s College Research Institute in Toronto, wrote in an accompanying editorial.
Steven Narod
“The article [by Armstrong and colleagues] tells an interesting story, but it is a story of the recent past told from a particular point of view, and given the rapid pace of change, it is a story that may not be a relevant guide for the future,” Narod wrote. “It is disingenuous to think that we can maintain the status quo in terms of universal one-on-one pretest counseling if we are to fully realize the technical advances in genetic sequencing and apply these to the practice of personalized medicine. We should test as widely as possible to find as many carriers as we can. To do this, we need to find adequate alternatives to one-on-one counseling and focus our attention on those with positive test results.” – by Cameron Kelsall
Disclosure: Sutphen reports personal fees from InformedDNA outside the conduct of the present study. The other researchers and Narod report no relevant financial disclosures.
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