NEW YORK (GenomeWeb) – Studying a group of Aetna-insured women who sought testing for BRCA mutations over one year, researchers have found that most did not receive pre-test counseling by a trained genetic professional, despite national recommendations.
The findings, published today in JAMA, also suggested that interaction with a professional genetic counselor before testing was associated with better knowledge of BRCA, better reported understanding, and satisfaction with testing.
Rebecca Sutphen, the study's lead investigator and a researcher at the University of South Florida's Morsani College of Medicine, told GenomeWeb that the results of the study paint a clear picture in terms of the relative benefit of trained pre-test counseling.
Sutphen is also the president and chief medical officer of phone-based genetic counseling company InformedDNA.
"We asked participants whether they received counseling via a trained genetics professional, so we could look specifically at … the knowledge they had, their expression of their understanding of the information they received, and their satisfaction with it," she said. "And our results show that it does make a difference [versus] the comparison group."
In the study, Sutphen and colleagues worked with Aetna to survey a group of 11,159 women whose clinicians ordered BRCA testing between December 2011 and 2012.
Among 3,628 women who responded, only about 37 percent reported that they received genetic counseling from a genetics professional prior to testing. The most commonly reported reason for not receiving testing was that a clinician had not recommended it.
Currently, national guidelines recommend that women seeking BRCA testing be counseled by a trained professional before they are tested.
"They spell out that genetic counseling should be performed prior to testing, and [also] spell out the elements of that counseling, and [make the point] that this is really the most appropriate setting for a patient to … make an informed decision," Sutphen said.
However, with the field of BRCA and other familial cancer risk mutation tests changing rapidly, some have raised questions about whether these guidelines are appropriate or relevant given shifts in how such tests are accessed and who is eligible for them.
In a commentary appearing in JAMA Oncology in response to Sutphen and her colleagues' report, Steven Narod of the Women’s College Research Institute in Toronto wrote that the results, while interesting, "may not be a relevant guide for the future," given the rapid pace of change in the field.
For example, BRCA-specific tests are now being supplanted by panels that cover not only BRCA, but also a range of other familial cancer risk mutations.
"Now that genetic testing is available for $200 or $300, most women can afford testing out of pocket… we might expect a ratio of 100 or more negative test results for each positive. We cannot expect to counsel 100 women for the sake of one positive result, so other forms of knowledge transfer (e.g. print or electronic media) need to be explored," Narod argued.
According to Sutphen, the issue of potentially broadening or altering paradigms for counseling patients seeking BRCA and other cancer risk mutation tests rests on whether patients can be effectively counseled in other ways than through a formal session with a genetic counselor, a question she said is still open.
"We know that if you focus on trained genetics professionals, there are clear national certification programs for those professionals … but what isn't so clear is [which] additional healthcare providers might have the necessary expertise or experience to provide genetic counseling and to do so systematically," she said.
In their study, she and her colleagues saw a benefit in trained genetic counseling over the absence of such counseling — whether a complete lack of one-on-one counseling all together, or potentially some more informal advisement by a physician or other healthcare provider, or through written or electronic materials.
However, the results of the Aetna study didn't drill down to look at different modalities of counseling — whether over the phone or in person — or to see if there were differences in the experiences and outcomes of patients who were not counseled by a professional but may have received other types of advisement or information.
According to Narod, alternatives to one-on-one counseling like printed or online materials need to be explored. Moreover, as testing expands past BRCA to large panels incorporating 20 or more genes, "it will be daunting to cover all possible outcomes with a pretest counseling process" of any kind, he wrote.
According to Sutphen, regardless of the debate over what kind of genetic counseling should be done, or whether current recommendations are appropriate, the fact is that the existing guidelines are not being followed.
Beyond being recommended, counseling is also mandated as a preventive service, to be covered in full by insurers under the Affordable Care Act, she added.
"I try to look at this from the patient perspective," she said. "Genetic counseling for BRCA testing in women with a family history is a preventive service … [but] it's safe to say [from our results] that many women may not know what it is, or what the benefits may be, or how to access it … so when you look at it from a patient point of view, our problem is in insuring that as many women in America as possible are aware of those options."
In his commentary, Narod also argued that the Aetna study has little to say about the impact of traditional trained counseling — or its absence — on outcomes beyond patient understanding and satisfaction.
Sutphen and her team now plan to study exactly that, and are currently collaborating with Aetna on a National Institutes of Health-funded study looking specifically at the utilization and outcomes of genetic testing among newly-diagnosed breast cancer patients, she said.
In addition to collecting patient reported outcomes the team will examine health claims data to actually see the choices made regarding initial or subsequent surgery, screening, and other changes in treatment and how that corresponds to patterns in counseling.