Genetic Testing for Breast Cancer

An examination of barriers to screening in patients with familial history

Breast cancer is one of the most common cancers in women.1 The discovery of the BRCA1 and BRCA2 genes raises the possibility of improved diagnosis and prevention of this disease. When mutated, BRCA1 and BRCA2 can greatly increase a woman’s risk for breast cancer development.2 In the general population, the lifetime risk of developing breast cancer is 13%.3 A mutation in the BRCA1 gene increases breast cancer risk to 57% by age 70, and a mutated BRCA2 gene increases the risk to 47%.3

Evidence shows that certain strategies can reduce cancer risk in carriers of BRCA1 and BRCA2 mutations.4 Women who have this mutation face complicated decisions about their health, and their providers should be able to assist them in making these decisions.

Providers, including nurse practitioners, need to be fully equipped with essential knowledge and understanding of these genes in order to identify high-risk patients and recommend or perform genetic tests if needed. Patients are becoming increasingly aware of genetic advances; therefore, providers must have the most current information on the subject.


This study sought to examine the knowledge of nurse practitioners who test for the BRCA1 and BRCA2 genes in high-risk women, and to identify barriers to testing. This study was developed to provide information about where improvements in BRCA education can be made, to create the most comprehensive and seamless care possible for patients. The study sought to answer the question: “How do healthcare providers treating women with a high risk of breast cancer perceive BRCA1 and BRCA2 testing?”

Literature Review

The U.S. Preventive Services Task Force (USPSTF) updated its guidelines on BRCA testing in 2013, recommending that “women who have a family member with breast, ovarian, tubal or peritoneal cancer” be screened with a risk assessment tool, and if identified as high risk, should be tested for the BRCA mutations.5 The panel said this testing should only be performed if it would aid in decision making and recommended against testing a woman with no family history of the identified cancers.5

A literature review found that although many providers reported using these guidelines, were aware of BRCA1 and BRCA2 testing and had ordered it, few identified the indications the USPTF specified.2,6,7 Providers tended to not refer many high-risk women,6 with one study showing that only 2 of 22 women who met the criteria actually received recommendations for genetic counseling or testing.7

Several studies documented a need for increased education of providers.8 A qualitative study (the only such study identified) showed that patients wished for their “primary care doctor” to be able to support them through the genetic testing process. A final study worth mentioning showed a general lack of genetics education in primary care.9

Overall, limited usable findings were available; most studies were more than 5 years old and did not focus specifically on nurse practitioners. However, a consensus of findings was that providers want more information on BRCA testing and indications. This proves that more research is needed to determine what providers know about testing for these genes, what barriers to testing they face, and what actions can increase awareness about testing and screening criteria.


Study Design. This was a quantitative descriptive correlational study developed to determine the association between provider knowledge and testing for BRCA1 and BRCA2 genes. The setting was all practices in Tennessee that employed NPs who were members of the Tennessee Nurses Association (TNA). The knowledge of healthcare providers was measured through a survey developed by the primary investigator using the USPSTF recommendations, and a previously developed survey about awareness and use of BRCA screening.6

Sample Distribution. Inclusion criteria were: membership in the TNA; NP board certification and licensure; and employment in Tennessee in family health, women’s health, adult gerontology/adult acute care, adult health, or gerontology. TNA members who did not meet all of these criteria were not included. Nonprobability convenience sampling was used and with that rule of thumb, the sample size was 30 NPs.

Union University’s Institutional Review Board approved this study. No harm was done to the participants, no compensation for completing the survey was given, and there was no punishment for not participating. No questions were asked that would violate any ethical conduct. The only risk was that practitioners might feel uncomfortable answering knowledge-based questions. However, they were able to exit the survey at any time.

Data Gathering. A cross-sectional survey was developed, and purposeful sampling was used to anonymously collect the information. An electronic message was disseminated via the TNA website’s email listserv, asking for NPs who met the criteria to take the survey. Clicking the link took the user to an informed consent statement, and by continuing, automatic consent was obtained.

The questionnaire asked demographic questions (age, gender, number of years in practice, practice setting, and type of practice), and the next section focused on questions about the BRCA1 and BRCA2 genes. Respondents were asked if they had ever tested or referred patients for BRCA testing and if they had, how often they had ordered the test in the last 2 years.

Respondents were asked to rate their confidence level, on a scale of 1 to 4, in performing or educating patients about BRCA testing. They were asked if they wanted more education about these genes and what barriers they experienced with this testing. The questionnaire then provided examples of patient scenarios and asked respondents to identify who needed genetic testing, according to USPSTF.

This survey was conducted through, which collected the data and provided descriptive statistics. A statistician at Union University analyzed and identified statistical trends using Chi square tests at a 0.05 significance level.


Of the 30 respondents, half reported ordering the BRCA test at some point; the other half had not. Of the 50% who had ordered testing, 73% (11) had ordered it in the last 2 years. Those who had ordered the test were mostly older than 50 and had been practicing for 11 to 20 years. Forty-seven percent were in family practice. Eighty-three percent of respondents wanted more education on genetic testing, and 40% of those reporting this had ordered the BRCA test before.

When ranking confidence on performing and educating about genetic testing, 76% were on the lower end (ranking themselves a 1 or a 2) and 24% at the higher end (ranking confidence a 3 or 4). A Chi square test performed on these responses showed a significance of p = 0.021. Another Chi square test was performed on the responses to identify which barriers were consistently identified in BRCA testing; it found a significance level of p = 0.002. The two barriers with significant difference were the lack of knowledge (30% of respondents) and the “other” category (also 30% of respondents). In this category, the most common barrier cited was cost.

Only four respondents selected all the appropriate USPSTF indications for testing. Of those, one was an NP certified in genetic counseling. Two of these NPs ranked their confidence on testing at a 1 (least confident), but correctly made all selections.


Results from this study indicate that more education on BRCA testing is needed, and desired, by providers. Despite the availability of USPSTF recommendations, only 13% of NPs were able to select all appropriate scenarios for someone needing testing. These findings are concerning, considering the role BRCA genes in breast cancer.1 Of the 15 NPs who had ordered the test, only two selected all the appropriate indications for testing. The study also identified consensus about lack of knowledge as a leading barrier.2

Most respondents ranked their confidence about BRCA1 and BRCA2 screening on the lower end. More research is needed about the type of education that would be most effective. And, more information is needed about insurance coverage, to address the cost barrier.


The limitations of this study include the non-random sampling technique, which may decrease generalizability. This sample size was small; a larger sample is needed in future studies. This survey did not identify which areas of BRCA testing providers had trouble with, which is another facet in need of more research.


  1. Amir E, et al. Assessing women at high risk of breast cancer: A review of risk assessment models. J Nat Cancer Inst. 2010;102(10): 680-691.
  2. Trivers KF, et al. Reported referral for genetic counseling or BRCA 1/2 testing among United States physicians . Cancer. 2011;117(23):5334-5343.
  3. Stan DL, et al. Challenging and complex decisions in the management of the BRCA mutation carrier. J Women’s Health. 2013;22(10):825-834.
  4. Khadim MF, et al. Multidisciplinary one-stage risk-reducing gynecological and breast surgery with immediate reconstruction in BRCA-gene carrier women. Eur J Surg Oncol. 2013;39(12):1346-1350.
  5. Nelson HD, et al. Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: A systematic review to update the US Preventative Services Task Force recommendation. Ann Intern Med. 2013;160(4):255-266.
  6. Bellcross CA, et al. Awareness and utilization of BRCA1/2 testing among U.S. primary care physicians. Am J Prev Med. 2011;40(1):61-66.
  7. Quillin JM, et al. Patient-reported hereditary breast and ovarian cancer in primary care practice. J Community Genet. 2014;5(2):179-183.
  8. Pal T, et al. A statewide survey of practitioners to assess knowledge and clinical practices regarding hereditary breast and ovarian cancer. Genet Test Mol Biomarkers. 2013;175(5):367-375.
  9. Houwink EJF, et al. Genetic educational needs and the role of genetics in primary care: a focus group study with multiple perspectives. BMC Fam Pract. 2011;12(5). doi: 10.1186/1471-2296-12-5.

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