Patricia A Kelly, DNP, APRN, CNS, AOCN®
Texas Health Presbyterian Hospital of Dallas
Laurie M Connors, DNP, APNG, FNP-BC
State University of New York at Buffalo
We applaud the authors of “Genetic testing for BRCA1 and BRCA2 genes” (June issue of The Nurse Practitioner) for addressing this important and timely topic. We were pleased that the authors emphasized the advanced practice registered nurse (APRN) role in genetics/genomics, a focus for the 2012 document, “Essential Genetics and Genomic Competencies for Nurses with Graduate Degrees.1,2 However, we have concerns about the article.
The article contains confusing statements and terminology inconsistent with current guidelines. For example, the authors describe BRCA1 and BRCA2 genes as “the gene can be inherited from either parent, mother, or father.” 1 (Page eight.) Each person inherits two copies of the BRCA1/BRCA2 genes -- one copy from each parent. It is the gene mutation, not the gene that can be inherited from either parent. The authors describe the value of a negative test.1 (page nine.) However, they fail to use the correct definition. A true negative test is when a cancer predisposing gene mutation is identified in a family, and the patient’s genetic test is negative for this specific mutation. By contrast, if there is no known mutation in the family and if no deleterious mutation is identified with genetic testing, the test results are “indeterminate or uninformative.”3The patient with an uninformative result can still be at increased risk of cancer based on the personal and/or family history of disease.
The authors state the management options for a BRCA1/BRCA2 mutation carrier are a “prophylactic mastectomy” and a preference for a “bilateral oophorectomy.” 1 (Page nine.) The correct terminology is “risk-reducing bilateral mastectomy” and “risk-reducing bilateral salpingo-oophorectomy” (BSO). Neither surgery completely eliminates breast and/or ovarian cancer risk. The fallopian tubes, as well as the ovaries, are at-risk for malignant transformation in BRCA mutation carriers and should be removed.4 A BSO is also reported to reduce the risk of breast cancer.4,5 The authors should have added important case study information: pedigree analysis, differential diagnoses, hereditary breast and ovarian (HBOC) testing options (Ashkenazi Jewish founder mutation panel, full gene sequencing with duplication/deletion analysis, and next-generation sequencing panels), and counseling, genetic testing, and management options for at-risk relatives.
Weak secondary references are used throughout the article. Seminal articles by Hartman, Rebbeck, current literature, and the updated National Comprehensive Cancer Network guidelines could be used to support mastectomy and salpingo-oophorectomy management options for BRCAmutationcarriers.4-8 Instead, the authors chose to cite fact sheets and American Cancer Society consumer education information.9,10Strong references and resources are absent, such as Gene Reviews and Online Mendelian Inheritance in Man.11,12
This article could be improved by following principles of effective writing.13,14 The authors write: “The positive results cannot say whether or not that woman will actually develop breast cancer,” and “The tests suggest what might happen, not what will happen.”1 (Page nine.) Tests cannot “suggest” nor can results “say.” Both are examples of personification, a writing style that is awkward and inaccurate.14The authors also write in passive voice, making the text difficult to read and understand, (for example, “An annual MRI may be recommended”) and “She is also referred.” (Page nine.) Using active voice would clarify the APRN’s role and responsibilities, (for example, “The APN recommended and referred...”
Writing matters. It is how we present ourselves as competent professionals. If we are to navigate the “complicated, highly-individualized journey” of genetic testing, we must communicate with clear and accurate information.1
- Kessenich, CR, Bacher, K, Moore PA. Lab logic: Genetic testing for BRCA1 and BRCA2 genes. Nurse Pract. 2014; 39(6): 8-10.
- Greco KE, Tinley S, Seibert D. Essential genetic and genomic competencies for nurses with graduate degrees. Silver Spring, MD: American Nurses Association and International Society of Nurses in Genetics. 2014.
- National Comprehensive Cancer Network. Genetic/familial high-risk assessment: breast and ovarian (version 1.2014). MS-34. Available at: http://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf
- National Comprehensive Cancer Network. Genetic/familial high-risk assessment: breast and ovarian (version 1.2014). MS-24. Available at: http://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf
- Domchek SM, Friebel TM, Singer CF, et al. Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA. 2010; 304(9): 967-975.
- Hartman LC, Schaid DJ, Woods JE, et al. Efficacy of bilateral prophylactic mastectomy in women with a family history of breast cancer. N Engl J Med. 1999: 340(2): 77-84.
- Hartman LC, Sellars TA, Schaid DJ, et al. Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 gene mutation carriers. J Natl Cancer Inst. 2001: 93(21): 1633-1637.
- Rebbeck TR, Kauff ND, Domcheck SM. Meta-analysis of risk reduction estimates associated with risk-reducing salpingo-oophorectomy in BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst. 2009; 101(2): 80-87.
- National Cancer Institute. Fact sheet: BRCA1 and BRCA2: cancer risk and genetic testing. http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA
- American Cancer Society. Genetic testing for cancer: What you need to know. 2013. http://www.cancer.org/cancer/cancercauses/geneticsandcancer/genetictesting/genetic-testing-what-you-need-to-know-toc
- Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1116/
- Online Mendelian Inheritance in Man, OMIM®. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD), (2014, June 23). World Wide Web URL: http://omim.org/
- Skunk W. The Elements of Style with Revisions, an Introduction, and a Chapter on Writing by EB White, 4th ed. Boston, MA: Allyn & Bacon; 2000.
- Winslow EH. Writing for publication: You can do it. J Healthc Q. 2012; 30(4): 12-16.