Clinically Indicated Genetic Counseling After Breast Cancer Diagnosis

Key Points

  • Overall, 74.6% of patients received some form of genetic counseling, including formal counseling for 43.5%.
  • Some form of genetic discussion was reported by 96.1% of tested patients and 50.6% of untested patients. 

In a study reported in the Journal of Clinical Oncology, Katz et al found that less than half of patients with clinical indications received formal genetic counseling after breast cancer diagnosis.

Study Details

The study involved surveys of 5,080 patients aged 20 to 79 years diagnosed with early stage breast cancer from July 2013 to August 2015 and reported to the SEER (Surveillance, Epidemiology, and End Results) registries of Georgia and Los Angeles County. Of these, 1,711 had indications for formal genetic risk evaluation.

Receipt of Counseling

Among patients with clinical indications for testing, 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. Overall, 74.6% received some form of genetic counseling, including formal counseling for 43.5% and physician-directed discussion for 31.1%. Among tested patients, 96.1% reported some form of genetic discussion, including formal counseling for 62.2% and physician-directed discussion for 33.9%. Among untested patients, 50.6% reported some form of discussion.

Younger women were more likely to report some form of counseling, with odds ratios of 4.5 (95% confidence interval [CI] = 2.6–8.0), 1.9 (95% CI = 1.1–3.3), and 1.5 (95% CI = 1.0–2.3) for women aged < 50 years, 50 to 59 years, and 60 to 69 years vs ≥ 70 years. Patients reported being satisfied with the amount of information about genetic testing irrespective of whether they received counseling from a genetics expert vs a physician only (80.8% vs 79.4%, P = .59).

The investigators concluded, “Less than one half (43.5%) of patients with clinical indications received formal genetic counseling. There is a large gap between mandates for timely pretest formal genetic counseling in higher-risk patients and the reality of practice today.”

The study was supported by the National Cancer Institute.

Steven J. Katz, MD, MPH, of the Departments of Medicine and Health Management and Policy, University of Michigan, University of Michigan Health Systems, is the corresponding author for the Journal of Clinical Oncology article.

The content in this post has not been reviewed by the American Society of Clinical Oncology, Inc. (ASCO®) and does not necessarily reflect the ideas and opinions of ASCO®.


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