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Genetic counseling underused for breast cancer

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March 12, 2018

Steven J. Katz

Only half of women with newly diagnosed breast cancer who could benefit from genetic counseling received it, according to study results published in Journal of Clinical Oncology.

“Integrating genetic counseling into treatment decision-making is challenging,” Steven J. Katz, MD, MPH, professor of general medicine at University of Michigan, said in a press release. “Oncologists appropriately focus on treatments for cancer that’s been diagnosed, and patients often desire to make decisions quickly. Addressing the risk for secondary cancers from a hereditary risk may be seen as a lower priority. It appears a substantial minority of patients do not receive any form of genetic counseling, highlighting a significant unmet need.”

Using the SEER registries of Georgia and Los Angeles County, the researchers conducted a survey of 5,080 patients aged 20 to 79 years diagnosed with early-stage breast cancer between July 2013 and August 2015.

Katz and colleagues linked these surveys to clinical data and genetic test results from SEER data. The study sample included 1,711 women with clinical indications for formal genetic risk evaluation.

Nearly half of patients (47.4%) did not undergo testing. Another 40.7% tested negative, 7.4% showed only a variant of uncertain significance and 4.5% had pathogenic mutations.

Most patients (74.6%) underwent some form of genetic counseling, although only 43.5% received formal counseling. About one-third (31.1%) had a physician-directed discussion.

Most women (96.1%) who received genetic testing reported having some form of genetic discussion — 62.2% received formal counseling and 33.9% received physician-directed discussion.

Only half (50.6%) of the women who did not receive testing reported any discussion about genetics with a health care provider.

Younger patients appeared more likely to have undergone genetic counseling of some kind than women aged 70 years or older (women aged younger than 50 years, OR = 4.5; 95% CI, 2.6-8; women aged 50 to 59 years, OR = 1.9; 95% CI, 1.1-3.3; women aged 60 to 69 years, OR = 1.5; 95% CI, 1-2.3).

Patients reported similar satisfaction with the amount of information they received regardless of whether they received counseling from a genetics expert or a physician: 80.8% of those counseled by genetics experts reported receiving information that was “just right” compared with 79.4% of those counseled only by physicians.

The researchers asked approximately half of the sample (n = 894) about the timing of their visit with a genetic counselor. Of 327 responding patients who met with a genetic counselor, 62.9% met with their counselors before breast cancer surgery.

“Patients should get counseling before surgery,” Katz said. “Bilateral mastectomy is a risk-reducing surgical option for those who test positive. Women need to be able to consider that in the context of their surgical treatment decision. Our study found that counseling too often does not come quick enough.”

The researchers suggested that clinicians make an effort to incorporate genetic counseling more closely with cancer care.

“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,” Sarah T. Hawley, PhD, MPH, a co-author of the study and professor of internal medicine at University of Michigan, said in the press release. – by Andy Polhamus

Disclosures: Katz and Hawley report no relevant financial disclosures. Please see the full study for a list of all other authors’ relevant financial disclosures.

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