Most Newly Diagnosed Women Don't Receive Genetic Counseling, Even Though They Should Have It
Fewer than 50% of women newly diagnosed with breast cancer who should receive advice from a licensed genetic counselor actually get counseling. In addition, only about half of the women who should have genetic testing actually have that testing.
A study suggests that fewer than 50% of women newly diagnosed with breast cancer who should have received advice from a licensed genetic counselor actually got counseling. In addition, only about half of the women who should have had genetic testing actually had that testing.
The study was published online on March 12, 2018 by the Journal of Clinical Oncology. Read the abstract of “Gaps in Receipt of Clinically Indicated Genetic Counseling After Diagnosis of Breast Cancer.”
Most inherited cases of breast cancer are associated with mutations in one of two genes: BRCA1 (BReast CAncer gene one) or BRCA2 (BReast CAncer gene two).
Women with a BRCA1 or BRCA2 genetic mutation:
- have up to a 72% lifetime risk of developing breast cancer
- have a much higher-than-average lifetime risk of ovarian cancer; estimates range from 17% to 44%
U.S. guidelines say that BRCA testing should be considered when:
- many women in a family have been diagnosed with breast and/or ovarian cancer, particularly if the women were younger than 50 when diagnosed
- some women in a family have been diagnosed with cancer in both breasts
- there is both breast and ovarian cancer in a family
- men in a family have been diagnosed with breast cancer
- there is breast cancer in a family and either male relatives on the same side of the family have been diagnosed with prostate cancer at a young age or relatives on the same side of the family have been diagnosed with gastrointestinal cancers, such as pancreas, gall bladder, or stomach cancer
- a family is of Ashkenazi (Eastern European) Jewish descent
In the study, called the iCanCare study, the researchers sent a survey on genetic testing to 5,080 women from Georgia and Los Angeles County diagnosed with early-stage breast cancer from July 2013 to August 2015. The researchers then linked this information to genetic test results and identified 1,711 women who were recommended to have genetic testing based on the national guidelines.
The study analyzed the survey answers from the 1,711 women.
Among other questions, the survey asked the women:
- to judge the amount of information they had received on whether or not they should have genetic testing
- if they had discussed breast cancer risk and genetic testing with their doctor
- if they had discussed breast cancer risk and genetic testing with a licensed genetic counselor
Regarding genetic counseling:
- 43.5% of the women talked to a licensed genetic counselor
- 31.1% talked to their doctor about their genetic risk
- 25.4% had no conversation about their genetic risk
- 80.8% of the women who talked to a licensed genetic counselor said the amount of information they were given was just right
- 79.4% of women who talked to their doctor said the amount of information they were given was just right
Regarding genetic testing:
- 52.6% had genetic testing
- 47.4% did not have genetic testing
Of the women who had genetic testing:
- 40.7% tested negative for a genetic mutation linked to breast cancer
- 7.4% had a variant of uncertain/unknown significance
- 4.5% had a genetic mutation linked to breast cancer
A variant of uncertain/unknown significance means the test found a mutation, but researchers aren’t sure whether the mutation is harmless or is linked to a higher risk of cancer.
"The key decision point is in the surgeon's office before surgery," said Steven Katz, study author and professor of general medicine and of health management and policy at the University of Michigan, in an interview. "Genetic counselors play an important role, but patients will not get timely risk evaluation -- counseling and appropriate testing -- without the leadership of surgeons to implement this evaluation into their practices."
"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," said senior study author Sarah Hawley, professor of internal medicine at the University of Michigan.
These results suggest that many high-risk women who should have genetic testing aren't having that screening done and aren’t receiving professional counseling to make informed decisions about genetic testing. This is troubling. Women with a genetic mutation linked to breast cancer have a number of options to reduce breast cancer risk including:
- a more aggressive screening plan starting at an earlier age
- hormonal therapy to block the effect of estrogen on breast tissue or reduce the amount of estrogen in the body
- removing the healthy breasts (prophylactic mastectomy)
Some women with a BRCA1 or BRCA2 mutation also may consider having healthy ovaries removed because of the increase in ovarian cancer risk. Removing the ovaries also dramatically lowers estrogen levels, and lower estrogen levels can reduce the risk of hormone-receptor-positive breast cancer.
Knowing that a woman has an abnormal BRCA1 or BRCA2 gene also is important information for the other women and men in her immediate family to have; they also may be carriers and at a higher risk of cancer.
The Gail score is a standard breast cancer risk assessment tool that assesses breast cancer risk based on a series of personal health questions that women and their doctors answer together. The questions ask about risk factors such as age, child-bearing history, family history of breast cancer, and breast biopsy results. The Gail score estimates the risk of developing invasive breast cancer in the next 5 years. If you think you may be at high risk for breast cancer, you might want to talk to your doctor about your personal and family medical history. You may want to ask your doctor to consider calculating your Gail score and then talk about what it means. You also may want to ask your doctor if genetic testing or a referral to a genetic counselor makes sense for you.
For more information, visit the Breastcancer.org Genetic Testing pages.
Editor’s Note: This article was updated on Jan. 22, 2019, with updated information on cancer risks associated with BRCA mutations.
— Last updated on February 22, 2022, 10:01 PM
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