Study: Gaps in genetic testing and decision-making for women with early-stage breast cancer
Contents
At a glance | In-depth |
Findings | Limitations |
Guidelines | Resources |
Questions for your doctor |
STUDY AT A GLANCE
This study is about:
How genetic testing results affect surgical and treatment recommendations and decisions for women who have been diagnosed with breast cancer.
Why is this study important?
Genetic testing for women diagnosed with breast cancer is becoming more common due to decreased costs, improvements in technology, media coverage, public awareness, and the recent introduction of "multi-gene panels" (genetic tests that look for mutations in multiple genes at the same time).
In women diagnosed with breast cancer, genetic testing for a or other hereditary mutation can affect surgical and treatment decisions. Women who test positive for a mutation in BRCA or other genes are also at higher risk of a second breast cancer or other cancers. Surgeons often recommend " mastectomy" (removal of both breasts) for women who test positive for a gene mutation. On the other hand, previous research shows that bilateral mastectomy does not increase survival for average-risk women. For this reason, most surgeons recommend "breast conserving surgery" (also known as ) for treatment of breast cancer in women who do not carry a gene mutation and are not considered at high risk for further cancer.
Genetic tests are complicated and the results are not always a straightforward positive or negative. Some test results may come back as a or . These results are considered by experts as “inconclusive” test results. Breast cancer patients with inconclusive genetic test results may not be at increased risk for further cancer and may not benefit from bilateral mastectomy.
This study looks at experiences and views of genetic testing in patients who were newly diagnosed with breast cancer. It also looks at views and attitudes of the patients’ surgeons with respect to genetic counseling, testing, and how genetic testing results affect treatment decisions.
Study findings:
- Of the 666 women who reported they had genetic testing:
- Approximately half discussed their results with a genetic counselor.
- 80% of women who had a mutation in , 2 or another gene that increased cancer risk decided to have a bilateral mastectomy.
- 51% of women who had a variant of uncertain significance (VUS) in a gene that increased cancer risk had a bilateral (double) mastectomy.
- Surgeons’ confidence in talking about genetic testing increased as they treated more patients.
- 24% of surgeons who saw more breast cancer patients reported that they recommended the same treatment (bilateral mastectomy) for women who had a VUS as for patients who had a pathogenic BRCA mutation.
- 50% of surgeons who saw fewer breast cancer patients treated patients with a VUS the same as they treated patients with a pathogenic BRCA mutation
What does this mean for me?
This study shows that genetic testing can help breast cancer patients make treatment decisions.
National guidelines recommend that patients meet with an expert in cancer genetics who can interpret the test results and explain what the results mean for patients and their families.
Despite the guidelines, not all patients who undergo genetic testing receive genetic counseling before and after genetic testing. Without genetic counseling, experts are concerned that breast cancer patients may not receive all the information that they need to make informed decisions about their surgery or treatment. This study reinforced that concern. Surgeons with less experience were more likely than more experienced surgeons to recommend double mastectomy to women with inconclusive genetic test results. Additionally, many of the women who had an inconclusive genetic test result underwent bilateral mastectomy. Experts are concerned these women may have chosen double mastectomy because they were not fully informed about the meaning of their test results. According to the study authors, “Half of average-risk patients with a VUS undergo BLM (bilateral mastectomy), suggesting a limited understanding of these results. These findings emphasize the need to address challenges in personalized communication about genetic testing.”
Despite this concern, there are many valid reasons why women with negative or inconclusive genetic test results choose double mastectomy after breast cancer.
Patients who receive genetic testing should discuss their results with a genetics professional to help them with treatment decisions. The role of a genetic counselor is to educate patients about genetic testing, provide information on their treatment and prevention options, and help them make informed decisions about their medical care. It is important that patients receive balanced and up to date information in order to make an informed decision in consultation with their health care team.
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Posted 7/14/17
References
Kurian AW, Hamilton AS, Ward KC, et al. “Gaps in Incorporating Genetic Testing Into Treatment Decision-Making for Early-Stage Breast Cancer.” Journal of Clinical Oncology. Published online first on April 12, 2017.
Disclosure
FORCE receives funding from industry sponsors, including companies that manufacture cancer drugs, tests and devices. All XRAYS articles are written independently of any sponsor and are reviewed by members of our Scientific Advisory Board prior to publication to assure scientific integrity.
This article is relevant for:
People diagnosed with early stage breast cancer
This article is also relevant for:
men with breast cancer
people with triple negative breast cancer
people with ER/PR + cancer
people with Her2-positive cancer
people with a genetic mutation linked to cancer risk
people with breast cancer
Be part of XRAY:
National Comprehensive Cancer Network guidelines regarding who should undergo genetic counseling and testing recommend speaking with a genetics expert about genetic testing if you have been diagnosed with breast cancer and any of the following apply to you:
- You have a blood relative who has tested positive for an
- You have any of the following:
- Breast cancer at age 50 or younger.
- Male breast cancer at any age.
- Ovarian cancer at any age.
- at any age.
- Two separate breast cancer diagnoses.
- Eastern European Jewish ancestry and breast cancer at any age.
- Lobular breast cancer and a family history of diffuse gastric cancer.
- breast cancer and are at high-risk for recurrence.
- Tumor testing shows a mutation in a gene that is associated with .
OR
- You have one or more close family members who have had:
- Young-onset or rare cancers.
- Breast cancer at age 50 or younger.
- Triple-negative breast cancer.
- Male breast cancer, ovarian cancer, pancreatic cancer or cancer at any age.
- Two separate cancer diagnoses.
- Metastatic prostate cancer or prostate cancer that is high-risk or very-high-risk.
The American Society of Breast Cancer Surgeons (ASBrS) released guidelines in 2019 recommending that all women diagnosed with breast cancer have access to genetic testing for inherited mutations in breast cancer genes.
If you are uncertain whether you meet the guidelines above and you are interested in or considering genetic testing, you should speak with a cancer genetics expert.
Updated: 07/28/2023
- How will genetic testing affect my medical options?
- Do I meet the national guidelines for genetic counseling and testing?
- I would like to have genetic testing, can you refer me to a genetic counselor?
- I would like a copy of my genetic test results for my records, can you provide this to me?
- What do my genetic test results mean?
- Should I have a bilateral mastectomy or a lumpectomy?
- Which relatives should I share my genetic test results with?
The following clinical trials include genetic counseling and testing.
- NCT02620852: WISDOM Study: Women Informed to Screen Depending on Measures of Risk offers women ages 40-74 the opportunity to undergo risk assessment and genetic testing in order to determine the best breast screening options based on their situation.
- NCT05562778: Chatbot to maximize hereditary cancer genetic risk assessment. Researchers are testing whether a mobile health platform, known as a "chatbot" can improve rates of genetic testing among Medicaid patients with an elevated risk having an inherited mutation.
- NCT05427240: eHealth Delivery Alternative for Cancer Genetic Testing for Hereditary Cancer (eReach2). This study will look at the effectiveness of offering web-based options for pre/post-test genetic counseling to provide equal or improved timely uptake of genetic services and testing.
- NCT05694559: Connecting Black Families in Houston, Texas to Hereditary Cancer Genetic Counseling, Genetic Testing, and Cascade Testing by Using a Simple Genetic Risk Screening Tool and Telegenetics. This study will provide genetic testing to 150 Black individuals and families and provide genetic counseling and risk reduction resources to individuals with a mutation linked to increased cancer risk.
Other genetic counseling or testing studies may be found here.
Updated: 02/29/2024
FORCE offers many peer support programs for people with inherited mutations.
- Our Message Boards allow people to connect with others who share their situation. Once registered, you can post on the Diagnosed With Cancer board to connect with other people who have been diagnosed.
- Our Peer Navigation Program will match you with a volunteer who shares your mutation and situation.
- Our moderated, private Facebook group allows you to connect with other community members 24/7.
- Check out our virtual and in-person support meeting calendar.
- Join one of our Zoom community group meetings.
Updated: 08/06/2022
The following resources can help you locate a genetics expert near you or via telehealth.
Finding genetics experts
- The National Society of Genetic Counselors website has a search tool for finding a genetic counselor by specialty and location or via telehealth.
- InformedDNA is a network of board-certified genetic counselors providing this service by telephone. They can also help you find a qualified expert in your area for face-to-face genetic counseling if that is your preference.
- Gene-Screen is a third-party genetic counseling group that can help educate, support and order testing for patients and their families.
- JScreen is a national program from Emory University that provides low-cost at-home genetic counseling and testing with financial assistance available.
- Grey Genetics provides access to genetic counselors who offer genetic counseling by telephone.
- The Genetic Support Foundation offers genetic counseling with board-certified genetic counselors.
Related experts
Genetics clinics
- The American College of Medical Genetics website has a tool to find genetics clinics by location and specialty.
Other ways to find experts
- Register for the FORCE Message Boards and post on the Find a Specialist board to connect with other people who share your situation.
- The National Cancer Institute (NCI)-designated comprehensive cancer centers have genetic counselors who specialize in cancer.
- FORCE's toll-free helpline (866-288-RISK, ext. 704) will connect you with a volunteer board-certified genetic counselor who can help you find a genetics expert near you.
Updated: 07/21/2023
Who covered this study?
US News
Misunderstood gene tests may lead to unnecessary mastectomies This article rates 4.5 out of 5 stars
Medical Daily
Breast cancer prevention: patients with uncertain genetic tests may get unnecessary double mastectomies This article rates 3.0 out of 5 stars
Crime Online
Stunning allegation: Half of all mastectomy patients do NOT have cancer gene; Misreading data? This article rates 3.0 out of 5 stars