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Many Breast Cancer Patients Do Not Get Genetic Counseling After Diagnosis

Many Breast Cancer Patients Do Not Get Genetic Counseling After Diagnosis
Mar 13, 2018 | staff reporter


NEW YORK (GenomeWeb) – Fewer than half of the breast cancer patients that meet clinical guidelines to receive formal genetic counseling actually get it, according to a new study.

Based on a family history of cancer, ancestry, and tumor characteristics, some breast cancer patients are at a higher risk of carrying a pathogenic genetic mutation. But as the new paper reported yesterday in the Journal of Clinical Oncology, it hasn't been clear whether such testing guidelines are put into practice.

First author Steven Katz from the University of Michigan and his colleagues surveyed more than 5,000 people who were diagnosed with early-stage breast cancer to ask them whether they underwent any form of genetic counseling and, if so, whether it was prior to surgery and if they were satisfied with the information they received. Those answers were then linked to patients' clinical data and genetic testing results.

The researchers found that only 43.5 percent of women with an elevated risk of carrying a pathogenic genetic mutation received formal genetic counseling, though 75 percent had some form of genetic discussion. Two-thirds of the time, those discussions took place before the patients underwent surgery.

"Integrating genetic counseling into treatment decision-making is challenging. Oncologists appropriately focus on treatments for cancer that's been diagnosed, and patients often desire to make decisions quickly. Addressing the risk of secondary cancers from a hereditary risk may be seen as a lower priority," Katz said in a statement.



The researchers sent surveys to 7,810 patients between the ages of 20 and 79, living in Georgia or Los Angeles County, and who were newly diagnosed with ductal carcinoma in situ or invasive breast cancer — 5,080 surveys were completed. The surveys asked patients not only whether they had discussed having a genetic test for breast cancer with a doctor or other health professional, but also whether they'd had counseling with a genetic counseling expert.

The researchers merged the survey responses with Surveillance, Epidemiology, and End Results (SEER) data and patients' genetic testing information from the testing labs.

Slightly more than a third of the women in the sample had an elevated pre-test risk of carrying a pathogenic genetic mutation and met National Comprehensive Cancer Network guidelines for being referred for formal genetic risk evaluation. Of these 1,711 women, 47.4 percent did not undergo genetic testing, while 29.7 percent were tested only for BRCA1 or BRCA2 mutations, and 22.9 percent received multigene panel testing.

Among those tested, 77.4 percent had normal test results, 14 percent had variants of uncertain significance, and 8.6 percent had a pathogenic mutation.

Overall, nearly three quarters of patients received some sort of genetic counseling, though less than a half received formal genetic counseling from a genetics expert. Half the women who didn't undergo testing also did not receive any counseling.



However, nearly all the patients who did undergo genetic testing said they had some counseling, and two-thirds said they'd had formal counseling. Nearly 63 percent of those who had formal counseling had it prior to surgery.

The researchers also reported that younger women were more likely to say they'd had counseling, and that patients on Medicaid were less likely to receive counseling than those with private insurance. These findings, the researchers noted, indicate lingering barriers to access. They found no differences by ethnic group in the receipt of genetic discussions or formal counseling.


As a quarter of patients had no discussion of genetics, the researchers said there is a significant unmet need and that how genetic counseling is incorporated into community practice could improve.
     "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," co-senior study author and Michigan researcher Sarah Hawley added.
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诊断之后再genetic consulting is too late?
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breast cancer has many different types. genetic tests help determine types and treatment options
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