Clinical Context

Most clinicians do not recommend a routine genetic evaluation for the risk for cancer among adults at average risk, but patients seem to be taking this matter into their own hands. Personal genomic testing, which is widely available and generally affordable, may revolutionize cancer screening as we currently understand it. These tests frequently offer an assessment for cancer risk, in addition to other data.

Gray and colleagues assessed the results of these tests and how adults changed their behavior after the test. Their results were published in the February 20, 2017, issue of the Journal of Clinical Oncology.^[1] In the study, 762 adults completed a genetic analysis along with surveys 6 months after study enrollment to evaluate their health behaviors. Overall, there was a strong majority of respondents who said that learning about their genetic risk for cancer was important in making the choice to pursue testing.

There were no tests positive for highly penetrant cancer susceptibility genes. However, approximately 20% of participants received a positive test for a single nucleotide polymorphism. Participants who had such positive tests were not more likely to change their diet or exercise habits compared with participants with completely negative results, nor were they more likely to seek out more cancer screening procedures or complete advanced planning directives.

Although personal genomic testing is elective, many patients with cancer should consider genetic counseling and testing. This includes approximately one third of patients with breast cancer. The current study evaluates the rate of genetic counseling and testing among these patients.

Study Synopsis and Perspective

A substantial number of patients with breast cancer who could benefit from genetic testing are not being tested, and many others are not being counseled.

A new study shows that in a large cohort of more than 1700 patients with early breast cancer, 47.4% were not tested. Although the majority of patients did report having some type of genetic discussion, only half of those who were not tested received any discussion about genetics.

The study was published online March 12 in the Journal of Clinical Oncology.^[2]

"Patients diagnosed with breast cancer need comprehensive patient-centered communication and decision making," said study author Steven J. Katz, MD, MPH, professor of general medicine and of health management and policy at the University of Michigan, Ann Arbor.

He explained that the "whole process needs to be slowed down, as too often it's considered a medical emergency, especially by patients. Both patients and doctors need time to collect all the information, including genetic predisposition, in those at higher pretest risk of mutations," Dr Katz told Medscape Medical News. "Doctors need to be better trained at counseling and integrating genetic counseling into treatment decisions. Treatment of cancer is largely focused on the biological subtype of the diagnosed cancer, while genetic predisposition plays a much smaller role in surviving cancer."

The authors note that genetic counseling is indicated for patients with breast cancer who have an elevated pretest risk of harboring a pathogenic mutation. About one third of newly diagnosed patients do have a higher risk for a genetic mutation, as determined on the basis of their having a family history of cancer, their ancestry, and/or tumor characteristics.

But as testing is becoming more extensive, genetic risk evaluation, including counseling and genetic testing, is currently chaotically deployed into practice, Dr Katz noted.

"Cost is not generally a problem, because the cost of testing is decreasing very quickly. The problem is the clinical utility of the testing today for patients with breast cancer, as there is legitimate clinical uncertainty about its role in treatment decision making," he said.

Testing and Counseling Uneven

Dr Katz and colleagues note that ideally, counseling should take place before surgery, because bilateral mastectomy is 1 of the options for risk reduction in this population. But putting genetic counseling into practice can be challenging, they note.

Information about integrating genetic counseling into community practices for patients with newly diagnosed breast cancer is limited. In this study, they examined the patterns and correlates of discussion, along with patient assessments about the information they received.

Surveys were sent to a large, diverse population of women (aged 20-79 years) with favorable-prognosis breast cancer who were identified from the Surveillance, Epidemiology, and End Results Program (SEER) database of Georgia and Los Angeles County as having newly diagnosed ductal carcinoma in situ or invasive breast cancer. The surveys were linked to SEER clinical data and genetic test results. The cohort available for analysis included 1711 women with indications for formal genetic risk evaluation.

Of the women who were tested, 29.7% only received testing for BRCA1/2, and 22.9% underwent a multigene panel test (representing 43.5% of those tested).

Within this group, 14.0% received results indicating a variant of unknown significance only, 8.6% were found to have a pathogenic mutation, and the remainder (77.4%) received negative results.

Overall, nearly three quarters (74.6%) of the cohort received some type of genetic counseling: 43.5% received formal counseling and 31.1% had a physician-directed discussion.

Genetic counseling was far less prevalent among those who were not tested. Only 22.6% received some type of formal counseling, and 28.0% had a physician-directed discussion. Conversely, almost all patients who were tested reported that they had received some form of genetic counseling (96.4% of those whose test results were negative, and 94.9% of those whose results indicated pathogenic mutations or a variant of unknown significance). About two thirds reported having received formal counseling (60.5% of those with negative test results and 67.9% of those with pathogenic mutations or a variant of unknown significance).

Half the women (n=894) were asked about the timing of their visit with a genetic counselor relative to surgery. Of the 327 patients who had a formal genetic counseling session, 62.9% did so before undergoing surgery.

Information Received Was "Just Right"

With regard to patient assessment of the information the patients received, the results were similar, whether the information came from a genetic counselor or a physician: 80.8% of patients who received information from a genetic counselor reported that the information was "just right" vs 79.4% of those who received information from a physician (P=.58).

Among women who had any sort of discussion, Latino women were much less likely to report satisfaction with the information they received. Less than two thirds of Latino women (63.5%) considered the information to be "just right" compared with 86.5% of white women, 75.6% of African Americans, and 80.3% of Asians (P<.001). More Latino women thought they had received too much information during these discussions compared with other groups (16.5% for Latino patients vs 1.4% for whites, 6.5% for African Americans, and 4.1% for Asians; P<.001).

"We need to find new ways to better integrate genetic counseling into practice by incorporating different clinicians, including genetic counselors, more flexibly and giving them tools to help patients understand the implications of testing on their treatment," said senior study author Sarah T. Hawley, PhD, MPH, professor of internal medicine at Michigan Medicine, in a statement.

The study was funded by the National Cancer Institute. The authors have disclosed no relevant financial relationships.

J Clin Oncol. Published online March 12, 2018.

Clinical Implications

• A previous study found that no individual who completed personal genomic testing had a positive high-risk genetic test for cancer, although single nucleotide polymorphisms were found in approximately 20% of participants. Participants who had such positive tests were not more likely to change their diet or exercise habits compared with participants with completely negative results, nor were they more likely to seek out more cancer screening procedures or complete advanced planning directives.
• Variables associated with a higher rate of genetic counseling in the current study of women with breast cancer included younger age and black (vs white) race. Income had no effect on the rate of counseling, but women receiving Medicaid were less likely to receive counseling.
• Implications for the Healthcare Team: The results from the current study demonstrate that the healthcare team needs to continue to promote genetic counseling for appropriate patients. The healthcare system also needs to provide greater access to a larger number of qualified counselors.

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