A minority of patients (43.5%) with an indication for breast cancer genetic risk evaluation actually received formal genetic counseling in clinical practice, according to an analysis of NCI Surveillance, Epidemiology, and End Results (SEER) data published in Journal of Clinical Oncology .

More expertise is required in genetic counseling, either formal counseling given by an expert, or by a cancer physician (physician-directed), wrote Steven J. Katz and his colleagues at the University of Michigan, Ann Arbor. With BRCA1/2-only testing, being replaced by multi-gene panel testing, further consideration and/or discussion of results and formulation of a management plan is required, they said.

Of 5,080 women with favorable breast cancer prognosis identified in the SEER registries between 2013 and 2015 in Georgia and Los Angeles County, 1,171 were identified as having clinical indications for formal genetic risk evaluation according to NCCN guidelines.

Of those, 47.4% did not get tested, 40.7% tested negative, 7.4% had a variant of uncertain significance only, and 4.5% had a pathogenic mutation. Three quarters (74.6%) received some form of genetic counseling (43.5%, formal counseling and 31.1%, physician-directed discussion). Almost all tested patients (96.1%) reported some form of genetic discussion. One half (50.6%) of those not tested received any discussion about genetics, reported the authors.

In addition, younger women more often reported some type of counseling (odds ratio, 4.5;95% confidence interval, 2.6-8.0; 1.9;95% CI, 1.1-3.3; and 1.5;95% CI, 1.0-2.3 for women younger than 50 years of age, 50-59 years of age, and 60-69 years of age, respectively, versus those 70 years of age and older).

Patients’ assessment of the amount of information they received about whether to have testing was high, “whether they received formal genetic counseling or a physician-directed discussion only (80.8% v 79.4% stated information was ‘just right’; P = .58),” the researchers noted.

As high-throughput molecular testing becomes increasingly complex, personalizing and tailoring the information to a individual patients’ need is crucial, the authors said. They further suggest a multipronged strategy that will train oncologists to integrate genetic testing into clinical decision making; including timely testing of patients at an elevated risk.

The study was supported by Grant P01 CA163233 to the University of Michigan from the National Cancer Institute. Potential conflict of interests were reported by Lauren P. Wallner, PhD (GlaxoSmithKline); Monica Morrow, MD (Genomic Health); Reshma Jagsi, MD (Amgen and AbbVie); and Allison W. Kurian, MD (Myriad Genetics, Invitae, Ambry Genetics, Genomic Health, GeneDx/BioReference, Genentech (a member of the Roche Group).

SOURCE: Katz SJ et al. J Clin Oncol. 2018 Mar 12. doi: 10.1200/JCO.2017.76.2369 .


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