From the Journals

Gaps exist in receipt of clinically indicated genetic counseling after breast cancer diagnosis


Key clinical point: There exists a large gap between mandates for timely pretest formal genetic counseling of higher-risk, breast cancer patients and its implementation in clinical practice.

Major finding: Almost half (47.4%) of patients diagnosed with early breast cancer with an indication for genetic risk evaluation did not get genetic tests. Of those who got genetic testing, 43.5% received formal counseling and 31.1% received physician-directed discussion.

Study details: Data on 5,080 women aged 20-79 years diagnosed with early stage breast during 2013-2015, reported to National Cancer Institute Surveillance, Epidemiology, and End Results (SEER) registries of Georgia and Los Angeles County.

Disclosures: 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.



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.

Dr. Steven J. Katz of the University of Michigan, Ann Arbor

Dr. Steven J. Katz

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.

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