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Gaps in genetic testing and decision-making for women with early-stage breast cancer


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Checked Special populations: women with early-stage breast cancer who are interested in or have had genetic testing

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Genetic testing for cancer risk is now more affordable and easier to obtain. As a result, many breast cancer patients are tested without ever seeing a genetic counselor. Genetic testing results affect treatment decision making, but they can be confusing, especially if patients do not receive genetic counseling. This study looks at breast cancer patients’ experiences following genetic testing and how testing results affect surgical decision making. (7/14/17)


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 early-stage 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 BRCA 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 "bilateral 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 lumpectomy) 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 Variant of Uncertain Significance or VUS. 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: 

  1. 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 deleterious (harmful) mutation in BRCA1, 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.
  2. Surgeons’ confidence in talking about genetic testing increased as they treated more patients.
  3. 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.
  4. 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 which breast cancer patients would benefit the most from genetic testing. The same 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. Ultimately the choice between lumpectomy and double mastectomy is deeply personal. 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.  

Questions to ask your health care provider:

  • 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?

IN-DEPTH REVIEW OF RESEARCH

Study background:

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 early-stage breast cancer. They also surveyed surgeons on their recommendations for mastectomy versus lumpectomy 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 early-stage breast cancer.

Population(s) looked at in the study:

The 666 women involved in this study were identified by Surveillance, Epidemiology, and End Results (SEER) registries from Georgia and Los Angeles County. These women were between 20 and 79 years old, were diagnosed between 2014 and 2015 with stage 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 BRCA1 or 2 mutation or if they would manage a patient with a VUS in the same way they would manage a BRCA mutation carrier.

Study findings:

Of the 666 women who participated in this study, 53 had a mutation in BRCA1, BRCA2, or other gene known to increase cancer risk; 59 had a variant of uncertain significance (VUS); and 463 had no mutation (pathogenic or VUS) 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 bilateral mastectomy.
  • 51% of the women who had a VUS in a gene known to increase cancer risk decided to have a bilateral mastectomy.
  • 16% of patients with no mutation and no VUS decided to have a bilateral 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 VUS as though they had a deleterious mutation.
  • About half of surgeons who saw a low volume of new breast cancer patients managed women with VUS as though they had a deleterious mutation.

Limitations:

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 deleterious mutation, and only 59 had a VUS. Because the study was conducted in Los Angeles and Georgia, the results may not apply to other areas in the United States.

Conclusions:

Previous research indicated that bilateral mastectomy does not increase survival for average-risk women. For this reason, most surgeons recommend lumpectomy 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, bilateral 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 VUS results.” This study suggests that a substantial number of women with early-stage breast cancer who have genetic testing and carry a VUS are having bilateral mastectomy.

Additionally, some surgeons are treating their breast cancer patients who carry a VUS as though they carry a deleterious mutation 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.

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Posted 7/14/17

References

Kurian AW, Hamilton AS, Ward KC, et al. “Gaps in Incorporating Germline Genetic Testing Into Treatment Decision-Making for Early-Stage Breast Cancer.Journal of Clinical Oncology. Published online first on April 12, 2017.

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