By Richard Ricciardi, PhD, NP, FAAN, FAANP
Dear Dr. Hain,
Thank you for your article entitled The CMS Annual Wellness Visit: Bridging the Gap, in which you describe the Medicare coverage for an Annual Wellness Visit, which includes a health risk assessment and a customized wellness or personal prevention plan.
In November of 2013, AHRQ published an evidence-based guide to facilitate implementation of health assessments in primary care settings. Health assessments (sometimes referred to as health risk appraisals) are used to collect information to help primary care providers evaluate a patient’s health status and risks. AHRQ’s health assessments how-to guide provides practical and evidence-based methods to implement health risk assessments and ultimately to engage patients in making lifestyle changes to improve their health.
The guide entitled Health Assessments in Primary Care: A How-to Guide for Clinicians and Staff employs the best current evidence for successful implementation of health assessments in the primary care setting. It includes tools to help healthcare providers and primary care teams decide which health assessments to use, how to integrate them into their daily workflow, and how to maintain the process. The guide is designed for practices that use electronic health records as well as those that use paper charts.
The guide provides sample health assessment questions for seniors, adults, adolescents, and children. Sample health assessment information for patients and a patient feedback survey are included. These tools represent findings from observations and interviews with primary care providers, staff, and administrators.
The health assessment guide was developed by a team of researchers led by Douglas Fernald, M.A. and David West, Ph.D. in the Department of Family Medicine at the University Of Colorado School Of Medicine, the Colorado Health Outcomes Program, and the Shared Networks of Collaborative Practices and Partners. The guide was pilot-tested by an interprofessional group of providers in primary care practices in Colorado, New Jersey, Georgia, and Louisiana.
The guide is in the public domain and available at: www.ahrq.gov/professionals/prevention-chronic-care/improve/system/health-assessments/index.html
Richard Ricciardi, PhD, NP, FAANP, FAAN
Agency for Healthcare Research and Quality
Kessenich, Bacher and Moore (2014) Genetic Testing for BRCA1 and BRCA2 GenesAnn Maradiegue, PhD, FNP-BC, FAANP
Family Nurse Practitioner, Baileys Community Health Clinic, Fall Church, VAFaculty (retired), George Mason University, Fairfax, VA
Quannetta T. Edwards, PhD, FNP-BC, WHNP-BC, FAANP
Professor, College of Graduate Nursing,
Western University of Health Sciences, Pomona, California
For many patients and families, nurse practitioners (NPs) are the primary provider of healthcare. Understanding of genetics/genomics and their impact on health and illness is essential for providing appropriate assessment and identification of individuals and families at risk for disease. This is important so that appropriate risk communication and risk management can be implemented while also considering ethical, legal, and social implications (ELSI) that genetics/genomics may have on individuals and families. This warrants that NPs be able to demonstrate knowledge and clinical proficiency incorporating genetic and genomic information into their practice. The Essential Genetic and Genomic Competencies for Nurses with Graduate Degrees, established by a consensus panel, includes specific criteria for competency in several categories, including, but not limited to, risk assessment and interpretation; genetic education, counseling, testing and results interpretation; clinical management, ELSI and professional role.1
The recent article by Kessenich, Bacher, and Moore titled Genetic Testing for BRCA1 and BRCA2 Genes, however, neglects to consider many important factors that are a necessary part of risk assessment and risk identification, clinical management, and professional responsibilities noted in the Essential Genetic and Genomic Competencies as well as in many national guidelines and prior studies.2 The article also fails to provide accurate information on the process of genetic testing and result interpretation. This lack of detail has the potential for adverse outcomes for those suspected for hereditary cancer syndromes that can lead to significant medical, ethical, legal, and social implications. There are also sections of the article that provide inaccurate and misleading information for the novice/inexperienced NP on the topic of hereditary breast cancer and genetic testing. This commentary provides a highlight of some of these issues.
The risk assessment process is integral for determining if genetic testing is indicated and whether or not it should include elements of a detailed family history, detailed personal medical and surgical history, and focused physical examination.3 A minimum three-generation pedigree on the maternal and paternal lineage is an essential component of the risk assessment process. It should include the ancestry of origin for both the maternal and paternal lineage, and both sides of the family lineage should be analyzed to assist in the differential diagnosis when individuals are suspected for an inherited cancer syndrome. When an inherited cancer syndrome is suspect based upon the history, the pedigree also enables healthcare providers to determine the most “informative” individual to counsel and consider for genetic testing. This is particularly important when the person who presents for counseling is “unaffected” pertaining to a condition associated with a genetic cancer syndrome that may be found in the family history. According to national guidelines, testing of unaffected individuals should only be considered when an appropriate affected family member is unavailable for testing, indicating the importance of a minimum of 3-generation pedigree.3
In the article by Kessenich and colleagues, the authors presented a case presentation warranting BRCA genetic testing.2 Important elements of the risk assessment process (as it pertained to the patient) also referred to as the consult and individual presenting for genetic counseling were not well discussed in the article, with information either missing or insufficient regarding the personal, maternal, and/or paternal family history.2 For example, no information was provided on the paternal lineage nor was a thorough discussion or a 3-generation pedigree presented to illustrate the maternal lineage and its family structure. The authors, however, did provide information on the ancestry of origin as Ashkenazi Jewish descent assumed on both maternal/paternal lineage, with a reported history of ovarian cancer on the maternal lineage (grandmother, deceased) and early age onset of breast cancer in the mother (deceased).
The ancestry of origin coupled with a family history of breast and ovarian cancer on the same lineage are red flags that would be reasonable for genetic risk evaluation for the patient according to national guidelines for unaffected individuals.3 This evaluation, according to the authors, led to BRCA genetic testing of the patient; however, the authors failed to discuss the specifics of testing. Based on the patient’s ancestry of origin, BRCA molecular testing using the three common Ashkenazi Jewish founder mutation panel should be performed first when testing for hereditary breast and ovarian cancer with comprehensive testing (for example, full sequencing of BRCA1/BRCA2 and testing for large genomic rearrangements) considered if no mutation is found depending upon the personal and family history.3
The three Jewish panel testing strategy for BRCA testing is initially performed since approximately 2% of Ashkenazi Jewish women carry a BRCA mutation4 and most mutations among this high-risk population are found in one of two founder mutations in BRCA1 or one founder mutation in BRCA2.4-6 The authors fail to discuss this testing strategy in the article despite the location of the article in the “Lab Logic” section of the journal as well as its significance to this high-risk population. Testing has important ethical and social implications particularly regarding the use of appropriate test(s) and costs.
Of concern is the section in the article regarding results interpretation – “value of a negative test.” Several errors are made in this section, including “testing for the BRCA gene” (which everyone has) rather that testing for a genetic mutation. In this section, the authors also incorrectly stated test results as “negative” regarding genetic testing performed on individuals with no deleterious mutation. The interpretation of an individual with “no deleterious mutation found” in the absence of a known family gene mutation should be one of “uninformative” or “indeterminate” results; since merely finding no mutation can lead to unanswered questions that may warrant further assessment and follow up, which can impact diagnosis, management of care, and ELSI. In the article, the authors note that when patients who test “negative for a BRCA mutation (assumed no deleterious mutation found), yet carry a family history for an elevated risk for breast or ovarian cancer” that empiric risk models should be the next step (for example, Gail model). However, this is not necessarily true, since the uninformative results may warrant more in-depth assessment and follow up depending on the personal and family history, particularly given the limitations of interpreting tests results in unaffected family members. When an individual has no deleterious mutation, yet the history is suspect for a breast or ovarian cancer syndrome, and no known mutation has been previously found in the family history, other issues may warrant further assessment, including the following:
Possibility of wrong test ordered: The patient does not have hereditary breast and ovarian cancer syndrome but rather “another inherited syndrome associated with breast and/or ovarian cancer” (for example, gene mutations in TP53, PALB2, PTEN and ovarian cancer due to Lynch Syndrome). This may warrant further single gene or next-generation sequence panel testing. Clinical judgment is integral in determining if the patient has a reasonable likelihood of a mutation. Evaluation and interpretation of the pedigree, the detailed personal and family history coupled with detailed personal examination, and confirmation of medical records (for example, grandmother’s history of ovarian cancer) are all central to decision-making regarding appropriate genetic testing and whether further testing is warranted and on whom testing should be conducted. In the article, the author assumes the BRCA test is the appropriate test, and when a negative finding is obtained that the individual does not have a genetic breast cancer syndrome, this may not be so. There is a chance that BRCA was not the correct test to order and perhaps the breast or ovarian cancer reported in the family history is due to another syndrome. Without establishing all of the information through the three-generation pedigree and other data, there is a chance of ordering the wrong test, which can lead to inaccurate medical management and serious adverse outcomes.
A BRCA deleterious mutation is present in the family that the patient did not inherit. This consideration is important given that other individuals in the family are a potential risk for inheritance of the mutation. Informing the patient that the findings of the test are “negative” may result in this information communicated to other family members, leading to a false assurance that there is no inherited cancer syndrome in the family. Pedigree analysis should be conducted so that other appropriate family members can be notified by the patient for genetic counseling and consideration for genetic testing by health professionals with expertise and experience in cancer genetics (for example, genetic counselor, geneticist, or an advanced practice nurse in genetics).3
If a mutation is later found in the family, the patient who initially tested with no mutation (as noted in the article) will now have a true negative result (unless other factors in the personal/family history note otherwise including assessment of paternal lineage). This has importance regarding appropriate future risk management and surveillance, as the patient may now be at population risk and not at high-risk for breast and/or ovarian cancer, reducing anxiety and unnecessary tests and costs (ethical issue of do no harm). In the article, the authors discuss the use of empiric risk models to determine risk when initial findings of genetic testing indicated no mutation (referred by the authors as negative), and this assessment may not accurately reflect the individual’s risk if a mutation is later found in the family.
No deleterious mutation for an inherited cancer syndrome found in the individual or family members with a history suspect for an inherited syndrome despite appropriate genetic testing and counseling by experts in cancer genetics. When a family history is strongly suggestive of an inherited syndrome, continual follow up via experts in cancer genetics is warranted to ensure appropriate assessment and management of care to reduce risk and prevent disease occurrence. Follow up with experts in the field is also important due to advances and new discoveries in cancer genetics that may require further contact of individuals for additional genetic testing in the future.
BRCA genetic testing may be “positive for a deleterious mutation as was noted of the patient in the article. Individuals with a deleterious mutation should be referred to experts with knowledge and management of hereditary breast and ovarian cancer syndrome. In the article, the authors noted referral for discussion for prophylatic bilateral oophorectomy indicating inadequate genetic counseling. The referral should be considered for risk-reducing salpingo-oophorectomy (RRSO) and not merely consideration for bilateral oophorectomy. In addition, because of the high rate of occult neoplasms at time of surgery, it is important that special attention regarding pathologic review of the ovaries and fallopian tubes should be conducted, indicating the importance of appropriate referral to individuals specialized in hereditary breast/ovarian cancer syndromes.3,7 For example, in one study, the use of a rigorous surgical protocol with meticulous pathologic review of RRSO resulted in an overall detection rate of 9.1% for occult gynecologic cancers in individuals undergoing the surgery and who were BRCA –positive mutation carriers.7
In addition, given the patient’s age of 53 with a family history of a grandmother with ovarian cancer at age 50, the immediacy of consultation and referral for examination and discussion for RRSO is imperative. Likewise, risk-reducing mastectomy is the correct terminology rather than “prophylactic mastectomy,” which was used by the authors when providing counseling and recommendations for individuals with hereditary breast and ovarian cancer syndrome management.3 Furthermore, the significance of testing to other family members should be considered in the context of professional guidelines. According to the American Society of Clinical Oncology, indications for genetic testing should include: the individual has personal or family history features suggestive of genetic cancer susceptibility condition; the test can be adequately interpreted; and results will aid in diagnosis or influence the medical or surgical management of the patient or family members at hereditary risk of cancer.8
While these guidelines hold true in the case presentation of the article by Kessenich and colleagues, it is important to refer to the pedigree when discussing management of care, including disclosure of the test results. For example, in the article, there is mention to share the results with the two daughters, yet the age of the daughters is not disclosed.2 Age is relevant in BRCA genetic testing, as testing is delayed until the individual is of sufficient age to make an informed consent (age 18) so they are able to participate in the decision making process.3
Other results of genetic testing include variants of unknown significance (VUS) that were not mentioned by the authors despite the focus is on “lab logic for BRCA genetic testing.” Findings of VUS may make interpretation of the results and decision-making challenging and follow-up management of care necessary. The complexity of testing for an inherited cancer syndrome, therefore, requires that individuals have knowledge of genetics/genomics, risk assessment, genetic counseling and testing, results interpretation, and appropriate risk communication and management of care.
Adverse events occurring as a result of inaccurate genetic counseling, genetic testing and risk communication, and management of care can have significant medical, ethical, legal, and financial implications.9 Many professional organizations recommend that individuals with expertise and experience in cancer genetics (for example, genetic counselors, nurses with genetics’ specialization or expertise/training, geneticists, and oncologists) should be involved early in counseling patients who meet criteria for inherited syndromes.3,8 NPs without preparation and specialized training in the area of cancer genetics, however, can play an important role by identifying individuals through the personal and family history who may be suspect for an inherited syndrome. If determined that the individual or family may be suspect for an inherited syndrome, then the NP should refer to health professionals with expertise in the area for counseling and genetic testing (if indicated), risk communication, and management of care.
Important competencies in genetics/genomics essential for health professionals are to “examine one’s competence of practice on a regular basis, identifying areas of strength, and areas where professional development related to genetics and genomics would be beneficial” in addition to knowing how and when to make a referral to a genetics professional.10 These two important competencies warrant knowledge and skills in the area of genetics/genomics as well as appropriate attitudes, which include seeking coordination and collaboration with an interdisciplinary team of health professionals.10
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.