Study: Gaps in genetic testing and decision-making for women with early-stage breast cancer
|At a glance||In-depth|
|Questions for your doctor|
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 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 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 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.
- 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 mastectomy.
- 51% of women who had a () in a gene that increased cancer risk had a (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 ( mastectomy) for women who had a as for patients who had a pathogenic mutation.
- 50% of surgeons who saw fewer breast cancer patients treated patients with a the same as they treated patients with a pathogenic 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 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 undergo BLM ( 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.
Share your thoughts on this XRAY review by taking our brief survey.
Kurian AW, Hamilton AS, Ward KC, et al. “Gaps in Incorporating Germline Genetic Testing Into Treatment Decision-Making for Breast Cancer.” Journal of Clinical Oncology. Published online first on April 12, 2017.
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
Triple negative breast cancer
Her2+ breast cancer
People with a genetic mutation linked to cancer risk
Breast cancer survivors
Women under 45
Women over 45
Be part of XRAY:
IN-DEPTH REVIEW OF RESEARCH
Genetic testing is becoming more common for breast cancer patients, helping patients and providers make decisions about treatment and surgery. National guidelines recommend that patients see experts known as genetic counselors before and after genetic testing. However, experts are concerned that there are not enough genetics experts to meet the growing need.
Allison Kurian, MD and colleagues from Stanford University School of Medicine and other institutions published work in the Journal of Clinical Oncology that examines how genetic testing results affect treatment decisions for patients with breast cancer. They also surveyed surgeons on their recommendations for mastectomy versus based on their patients’ genetic test results.
As the research study authors write, “The genetic counselor workforce is insufficient to meet the growing demand for timely incorporation of genetic testing into treatment decisions.” Because of this, healthcare providers such as surgeons, medical oncologists and other physicians may feel that they need to counsel patients about their genetic testing results, which may be difficult for some healthcare providers who have limited experience with genetic testing.
Researchers of this study wanted to know:
How genetic testing results affect surgical and treatment recommendations and decisions for women who have been diagnosed with breast cancer.
Population(s) looked at in the study:
The 666 women involved in this study were identified by Surveillance, Epidemiology, and End Results () registries from Georgia and Los Angeles County. These women were between 20 and 79 years old, were diagnosed between 2014 and 2015 with 0-II breast cancer, and reported that they already had genetic testing. The study included 57% non-Hispanic whites, 18% blacks, 14% Hispanics and 9% Asians.
Providers who ordered genetic testing for the patients in this study included surgeons, medical oncologists, and genetic counselors. Patients reported talking about their genetic test results with surgeons only, medical oncologists only, genetic counselors only, or multiple health professionals.
Two months after their breast cancer surgeries, patients answered a questionnaire that included questions regarding genetic testing, whether they discussed their genetic testing results with a health care professional or genetic counseling expert, when they received their results, the genetic testing result, who ordered the genetic test, surgical procedures, and race.
Surgeons were also surveyed. They responded about the number of new patients with breast cancer they treated in the past year and their confidence in discussing the pros and cons of genetic testing with their patients. Regarding patients who were candidates for genetic testing, surgeons were asked how often they referred women for genetic counseling ordered testing without a referral for genetic counseling, and delayed surgery until test results were obtained. Surgeons were also asked whether they would offer breast-conserving treatment as a reasonable option for someone with a or 2 mutation or if they would manage a patient with a in the same way they would manage a mutation carrier.
Of the 666 women who participated in this study, 53 had a mutation in , , or other gene known to increase cancer risk; 59 had a (); and 463 had no mutation (pathogenic or ) in any of the genes tested. The remainder of the 666 women did not report their genetic testing result.
- Approximately half of the 666 women who reported genetic testing talked with a genetic counselor about their results.
- 80% of the women who had a mutation in a gene known to increase cancer risk decided to a have mastectomy.
- 51% of the women who had a in a gene known to increase cancer risk decided to have a mastectomy.
- 16% of patients with no mutation and no decided to have a mastectomy.
337(the overall response rate was 78%) surgeons were surveyed. Of these, 98 (29%) indicated that they saw a high volume of breast cancer patients (51 or more treated in the past year). 128 (38%) indicated that they saw a low volume of breast cancer patients (0 to 20 treated in the past year). 101 (30%) indicated that they saw a moderate number of patients while 10 (3%) did not report on number of breast cancer patients seen.
- About one-fourth of surgeons who saw a high volume of new breast cancer patients managed women with a as though they had a .
- About half of surgeons who saw a low volume of new breast cancer patients managed women with as though they had a deleterious mutation.
The patient survey data used in this study may include inaccuracies due to errors in recall. Patient medical records were not reviewed to validate how well they remembered details about their situation or care. The study did not look at other reasons why patients may have chosen double mastectomy or the degree that they were involved in the decision-making process. Additionally, while the study began with 666 women, only a relatively small sample size, 53 carried a , and only 59 had a . Because the study was conducted in Los Angeles and Georgia, the results may not apply to other areas in the United States.
Previous research indicated that mastectomy does not increase survival for average-risk women. For this reason, most surgeons recommend for treatment of breast cancer in women who do not carry a gene mutation and are not considered at high risk for further cancer. However, mastectomy does reduce the risk of a second breast cancer diagnosis. This is particularly relevant for women who carry a mutation in BRCA1/2 or another gene that increases breast cancer risk. The study authors write that, “It is essential that patients understand the meaning of their results and that [bilateral mastectomy] be discussed with mutation carriers but not recommended for women with negative or results.” This study suggests that a substantial number of women with breast cancer who have genetic testing and carry a are having mastectomy.
Additionally, some surgeons are treating their breast cancer patients who carry a as though they carry a that is known to increase cancer risk. While each patient should have a personalized care and treatment plan that is best for them, patients should make sure that they discuss their genetic testing results with a genetics professional. The results of this research highlight the challenge of including rapidly advancing genetic testing technology into personalized breast cancer treatment.
The National Comprehensive Cancer Network has guidelines on who should undergo genetic counseling and testing. If you have been diagnosed with breast cancer, you should speak with a genetics expert about genetic testing if any of the following apply to you:
- You have a blood relative who has tested positive for an inherited mutation
- 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
- breast cancer
- Testing of your tumor shows a mutation in a gene that is associated with
- breast cancer and high risk for recurrence
- Lobular breast cancer and a family history of diffuse gastric cancer
- You have one or more close family members who have had:
- Young-onset or rare cancers
- Breast cancer at age 50 or younger
- Male breast cancer, ovarian cancer, pancreatic cancer, or cancer at any age
- Two separate cancer diagnoses
- cancer at age 55 or younger or prostate cancer
The American Society of Breast Cancer Surgeons (ASBrS) released guidelines in 2019 that recommend 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.
- 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 mastectomy or a ?
- Which relatives should I share my genetic test results with?
Below are clinical trials that include genetic counseling and testing.
- NCT02665195: Registry Of MultiPlex Testing (PROMPT). PROMPT is an online research registry. The goal of PROMPT is to help researchers to better understand the risks that are linked to mutations in less well-studied genes.
- NCT04245176: Genetic Testing for All Breast Cancer Patients (GET FACTS). This study looks at the impact of a novel genetic counseling method on surgical decisions in people with newly diagnosed breast cancer. This study involves genetic counseling about risk.
- NCT02620852: WISDOM Study: Women Informed to Screen Depending on Measures of Risk offers women age 40-74 the opportunity to undergo risk assessment and genetic testing in order to determine the best breast screening options based on their situation.
- Enhancing Genetic Risk Assessment in Underserved Blacks and Latinas at Risk of Hereditary Breast Cancer. This study will test how well educational materials increase the use of knowledge about risk.
- NCT04476654: Improving Uptake of Genetic Cancer Risk Assessment in African American Women-Video. This study looks at the usefulness of intervention with a culturally-tailored video to improve uptake of genetic counseling in Black women who are at increased risk of .
Other genetic counseling or testing studies may be found here.
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.
Health care providers who are specially trained in genetics can help you more clearly understand your risk for . The following resources can help you locate a genetics expert in your area.
- The National Society of Genetic Counselor website offers a searchable directory for finding a genetic counselor by state and specialty. To find a genetic counselor who specializes in cancer genetics, choose "cancer" under the options "Area of Practice/Specialization."
- 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.
- JScreen is a national program based out of 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.
- FORCE's toll-free helpline at: 866-288-RISK, ext. 704 will connect you with a volunteer board-certified genetic counselor who can answer general questions about genetic testing and cancer and help you find a genetics expert near you.
- FORCE Peer Navigator Program will match you with a volunteer who has undergone genetic counseling and can help you navigate resources to find a genetic counselor near you.
- Ask your doctor for a referral to a genetics expert.
Who covered this study?
Also published in:
The same article was also covered by Health Day
Misunderstood gene tests may lead to unnecessary mastectomies This article rates 4.5 out of 5 stars
Breast cancer prevention: patients with uncertain genetic tests may get unnecessary double mastectomies This article rates 3.0 out of 5 stars
Stunning allegation: Half of all mastectomy patients do NOT have cancer gene; Misreading data? This article rates 3.0 out of 5 stars