Volume 17, Issue 1, June 2013
Sleuthing the Suspicious
When Test Reports Are Ambiguous

Kathleen Mott, RN, MSN, WHNP-BC, APNG
Santa Rose, CA

Lois (not her real name) is a 57-year-old menopausal Caucasian female who was diagnosed with stage 1 ER/PR+, HER-2 neu-infiltrating ductal carcinoma of her right breast at age 56. Her father was of Ashkenazi Jewish descent, and although her paternal family was small, it was adequate for genetic risk assessment. Lois’ maternal family is French and Swiss. Lois knew of six second-degree maternal relatives, but she had no medical history information for four of them (see below).

Click image to enlarge.

Lois had undergone a partial mastectomy and partial breast radiation when I met her. After learning of her Ashkenazi heritage, her surgeon suggested that she see me. Lois was interested in genetic testing because of the potential increased risk of ovarian cancer. She met 2012 National Comprehensive Cancer Network (NCCN) criteria for BRCA multi-site gene analysis because of her Ashkenazi Jewish ancestry (NCCN, 2012). However, because of her unknown maternal family history, I ordered full gene BRCA1/BRCA2 sequencing. As was my protocol at the time, large rearrangement analysis was ordered as a reflex test.

The Testing Report
I was surprised that Lois’ insurance approved BRCA1/BRCA2 sequencing with no out-of-pocket cost. When no mutation was detected during full sequencing, a large rearrangement panel was run, and a duplication of exons 1–3 in BRCA2 was detected. The commercial laboratory issued a report classifying my patient’s mutation as “suspected deleterious, but.The abbreviated testing report was as follows. “Large rearrangements involving the duplication of one or more exons are generally assumed to be deleterious. However, sufficient data do not exist to determine the exact duplication endpoints and/or the location and orientation of this duplication. Because we cannot entirely exclude the possibility that this mutation does not affect normal protein structure and function, the pathogenicity of this duplication is less certain in comparison with other variants currently classified as ‘suspected deleterious.’ Clinical decisions should be modified accordingly, taking into account the personal/family history of this individual.”

I discussed the case with several cancer genetics experts, including two certified genetic counselors, an internationally known hereditary breast ovarian cancer researcher, and trusted colleagues. I presented the case at City of Hope, a large NCI-designated comprehensive cancer center in Duarte, CA, known for its hereditary cancer genetics program. The opinion of this group was that the report needed further clarification. Armed with several questions, I followed up with the director of the variant reclassification program at the commercial testing laboratory.

The laboratory director explained that “the American College of Medical Genetics considers duplications pathogenic.” She explained that my patient’s variant was a “terminal’ duplication,” which may or may not disrupt normal gene expression, and because the endpoints and orientation of the duplication could not be characterized, the laboratory was not able to pool data between families with the same mutation. Understanding the dilemma created by the report, the director offered complimentary testing to determine the origin of the mutation within my patient’s family. Because Lois’ mother lived to the age of 84 without developing cancer, the commercial laboratory agreed to offer complimentary testing to Lois’ maternal half-brothers. One of Lois’ three half-brothers agreed to complimentary testing. Kits with detailed instructions and a completed test requisition were mailed to him. When the half-brother tested positive for Lois’ mutation, their deceased mother was confirmed as an obligate carrier. Because she lived into her 80s without developing cancer, it is plausible to consider that the mutation may not confer the risks associated with mutations known to be deleterious.

Outcome and Follow-Up
My patient was not reassured by the explanation that her mutation may not confer the risks of cancer associated with confirmed deleterious mutations. After considering the risk of ovarian cancer and knowing that her insurance deductible was met, Lois opted for a risk-reducing bilateral salpingo-oophorectomy (RRBSO). Pathology revealed benign findings in both tubes and ovaries. Lois currently is taking Arimidex® and will receive semi-annual clinical breast examinations, diagnostic mammograms as ordered, and screening breast magnetic resonance imaging to alternate with annual bilateral mammograms (one study every six months).

The half-brother who tested positive has been referred to a cancer genetics professional near his home. Lois’ sister is planning to undergo single-site testing for the known mutation. Lois continues to discuss genetic counseling and testing with the two half-brothers who have not tested. I suggested that she share her counseling summation letter with all maternal adult family members.

In addition to presenting a number of counseling challenges, this case highlights the level of skill and commitment needed for the interpretation of genetic test results. As a solo practitioner, I was unable to find support from my usual genetics colleagues, as they had never encountered this type of result. Patient visits, phone calls, e-mails, and my personal education about the “suspected deleterious, but” report were time-consuming and, at times, frustrating.

Lois and her husband initially felt that the laboratory skirted its responsibility by not issuing a clearer, more actionable report and were angry with the situation. With counseling and education, they were able to focus on proactive decision-making.

I was faced with the task of testing individuals I had not met or counseled. Although my patient's half-brothers could have traveled to see a genetic counselor (they live in other states) or possibly elected phone consultation, Lois felt they would be less likely to pursue the offer of complimentary testing if the process became too involved. I provided written educational materials with the test kits, but I was concerned that the half-brothers may not understand the ramifications of undergoing complimentary testing.

I have thought a lot about this case and am relieved that my patient decided to undergo RRBSO and is comfortable undergoing increased breast surveillance. I am glad that my patient’s sister plans to undergo single-site testing. She plans to discuss her results with her children. However, 11 nieces and nephews also need information in order to make informed decisions regarding testing and medical management.

This case highlights the importance of pre-test counseling for anyone considering genetic testing and the need for careful sleuthing when suspected deleterious results are ambiguous.

National Comprehensive Cancer Network. (2012). National clinical practice guidelines in oncology (NCCN Guidelines®): Genetic/familial high-risk assessment: Breast and ovarian, version I. Retrieved from http://www.nccn.oreg/professionals/physician_gls/pdf/genetics_screening.pdf

The Cancer Genetics SIG Newsletter is produced by members of the
Cancer Genetics SIG and ONS staff and is not a peer-reviewed publication.

Special Interest Group Newsletter  June 2013

Coordinator’s Message
Congress Wrap-Up

Jacqueline Hale, RN, APN-C, AOCN®, APNG
Flemington, NJ

In these very busy and challenging times, attending Congress is not feasible for many of our SIG members. If you were unable to be at Congress, I want to update you on the exciting things happening within our SIG. The SIG meeting at Congress was a combination of business and an educational update. Members of the Cancer Genetics (CAG) SIG have voiced a desire and identified potential benefit and value in ONS recognition of cancer genetics as a specialized body of knowledge. National organizations have proposed certification in cancer risk assessment and hereditary cancer syndrome genetic testing, and the American College of Surgeons and National Accreditation Program for Breast Centers reference genetics credentialing in their standards for accreditation of cancer and breast cancer programs and centers.

Oncology nurses continue to be challenged in accessing educational programs to meet the requirements for genetics credentialing. Notably, the current credentials in genetics for nursing are not cancer-specific. The CAG SIG leaders have engaged in a thorough evaluation of these concerns throughout the past year. We have provided the ONS and Oncology Nursing Certification Corporation (ONCC) boards of directors with the experiences of members and expectations of employers. In turn, the boards have shared with us the breadth and depth of the process to introduce a meaningful certificate or certification program and bring the program to the nursing community. The proposal (made by the CAG SIG) to evaluate the feasibility of a certificate or certification program for cancer genetics was on the March ONS Board agenda and shared with the ONCC Board. The boards are planning to move forward with the initiation process. I urge you all to share and spread this great news. The feasibility of undertaking the process is a reflection of the number of candidates, benefit to our members and the oncology community, and return on investment. We need to show that we are behind this, need this, and will use this as leaders in the oncology community.

I am pleased to report that the position statement on the role of oncology nurses in cancer genetics is now posted on the ONS Web site. Several nurses from the CAG SIG worked diligently on this statement and feel it reflects our roles well. Please take the time to review the statement, and visit the Virtual Community (VC) to share any comments or added insights you have.

The CAG SIG goals also are accessible on the ONS Web site. These goals are updated annually after Congress and reflect member input for the mission, goals, and strategic planning of ONS. SIG leaders need to hear from members in order to incorporate the members’ experiences and observations into the goal planning. Please make yourselves heard, and share your wisdom with your SIG leaders. We have many experts among us with experiences that may be unique to a role, setting, employer, institutional directive, or patient population. SIG leaders need to hear from you! Use the VC, and prompt a discussion. It is a great way to get to know other SIG members.

We are in an exciting time of science, discovery, and application of genetic and genomic information in cancer care. I challenge myself daily to build my knowledge base, keep up-to-date, and remain skilled in effectively translating my new knowledge into practice. I hope you accept these challenges as well. Most of all, I look to ONS, you, and our SIG peers to be reliable “go-to” resources.

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Special Interest Group Newsletter  June 2013

The Future of Oncology Nursing
Advancing Care Through Science Conference

Jennifer T. Loud, RN, CRNP, DNP
Derwood, MD

I was privileged to attend the ONS conference Connections: Advancing Care Through Science from November 16–18 in Phoenix, AZ. Hundreds of nurses from across the nation attended to hear the most recent findings in oncology nursing research and advances in oncology nursing practice. The topics were broad and included sessions on health policy, information technology, and quality of life and new information on targeted therapies, oncology survivorship, and translational sciences. I met colleagues who practice on the cutting edge of oncology care and conduct basic through translational research. I was humbled by the success and advancement of oncology nursing practice and oncology nursing research that were evident in the sessions.

I also was fortunate to have my own research accepted for a podium presentation on Sunday morning. With coffee and pastries in good supply, I shared the preliminary findings of how cognitive and affective behaviors are associated with uptake of risk-reducing surgery in women who are BRCA1 or BRCA2 mutation carriers and explored how the use of transition theory aids in the identification of most significant behavioral factors in this setting. As always, my oncology nurse colleagues had insightful questions and suggestions about our findings. The manuscript is being finalized in anticipation of publication in the near future.

Several of the practice sessions featured updates on gene-targeted therapies—both those in research settings and those that have received approval from the U.S. Food and Drug Administration. The progress in our ability to identify somatic mutations in tumors will lead to enormous growth in our understanding of human malignancy and lead to greater numbers of targeted therapies and biomarker development over time. However, the translation of new cancer genomic findings into clinically useful treatments continues to lag behind cancer genomic discovery. The evidence of benefit that must be documented to justify the translation of genetics and genomic findings into clinical practice requires rigor and time. As defined by the National Cancer Institute’s Dictionary of Cancer Terms, a biomarker (whether a genetic or other molecular marker) is “a biological molecule found in blood, other body fluids, or tissues that is a sign of a normal or abnormal process, or of a condition or disease. A biomarker may be used to see how well the body responds to a treatment for a disease or condition.”

Before any type of biomarker can be integrated into clinical care, it must be subjected to rigorous review to determine whether the biomarker is accurate, is consistent, and provides information that will improve health outcomes and potential risks associated with it also must be known. The Centers for Disease Control and Prevention developed a process for biomarkers being evaluated for clinical care. The ACCE model is a systematic approach for evaluating a new biomarker or genetic test. ACCE stands for the following.

  • Analytic validity: how accurately and reliably the test measures the genotype of interest
  • Clinical validity: how consistently and accurately the test detects or predicts the intermediate or final outcomes of interest
  • Clinical utility: how likely the test is to significantly improve patient outcomes
  • Ethical, legal, and social implications that may arise in the context of using the test

Many biomarkers look promising in early development but fail due to lack of replication or fail to demonstrate clinical utility. Oncology nurses working at the nexus of translation and integration of newly discovered biomarkers are often the healthcare professionals most likely to explain why some molecular markers have proven useful while others have not. This only will intensify as the pace of discovery and translation in cancer genetics and genomics increases over time and the technologies of discovery continue to elucidate the underlying biological mechanisms of malignancy.

In response to the rapidly changing needs of patients and oncology nurses in the genomic age, the Cancer Genetics (CAG) SIG recently updated the ONS position statement on the role of oncology nurses in cancer genetics and genomics. The CAG SIG is composed of nurses who have expertise in the integration and application of cancer genetics and genomics in oncology nursing care. Initially, the CAG SIG focused primarily on the genetics of rare hereditary cancer syndromes. However, as genomic technology and the application of genomic discoveries have blossomed, similar expertise is relevant to the clinical application of genetics and genomics across the oncology nursing continuum of care; therefore, members of the CAG SIG strive to work with other SIGs to strengthen collaboration between oncology nursing colleagues and enrich educational opportunities for all ONS members.

On the last day of the conference, during the final wrap-up session, many members offered a vision for the future of oncology nursing care. From the many responses, it was obvious that every type of oncology nurse was present in that conference room. They called for more work in cancer prevention; personalized oncology care that is not only molecularly directed but also directed by patient preference; more funding for nursing research; and better patient assessment tools. The passion for oncology nursing was palpable. I felt proud and humble to be among my outstanding nursing colleagues.

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Special Interest Group Newsletter  June 2013


Congratulations to Catherine Belt, RN, MSN, AOCN®, senior administrator at Penn Cancer Network, a select group of community hospitals throughout Pennsylvania, New Jersey, and Delaware, on her election to the position of SIG coordinator-elect. Send your congratulations to Catherine.

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Special Interest Group Newsletter  June 2013

Thank You

The Cancer Genetics SIG thanks Rose Bell, ARNP-C, MSN, OCN®, for her leadership role as newsletter editor for the past two years. In November 2012, Rose rSesigned from her editor position so she could devote more time to finishing her dissertation,A Theory of Cancer Survivorship Based on the Needs of a Population Diagnosed With Chronic Lymphocytic Leukemia.” We look forward to future publications and communications about this important dissertation topic.

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Special Interest Group Newsletter  June 2013

SIG Leadership Opportunity

Are you interested in becoming a member of the Cancer Genetics SIG leadership team? Consider a position as newsletter co-editor. The SIG publishes three newsletters per year. As co-editor, you would work with Patricia Kelly, DNP, RN, CNS, AOCN®, to solicit articles, case studies, and genetics updates and complete required SIG newsletter transmittal forms. No experience is needed. If you would like more information, contact Patricia.

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Special Interest Group Newsletter  June 2013

SIG Member Presentations

In November 2012, Jacqueline Hale, RN, APN-C, AOCN®, APNG, presented a webinar “Translating and Integrating Scholarship into Practice.” The webinar was part of the International Society of Nurses in Genetics series “The Essentials of Master’s Education in Nursing.”

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Special Interest Group Newsletter  June 2013

Open Access to Cancer Genetics and Genomics Articles

Ensuring that nurses play a central role in the application of genomics in clinical care is at the core of the Journal of Nursing Scholarship special issue on genomics. The issue explores genomic variation and its clinical implications for common diseases in pediatric and adult patients, such as cardiovascular diseases, metabolic syndrome, and cancer. Highlights include the genomics of common health conditions; emerging genomic science and technology; and the ethical, legal, and social nursing research issues associated with the translation of genomics into health care. All articles included in this special issue are open access and freely available.

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Special Interest Group Newsletter  June 2013

Exclusive Articles Available Before Print

The Oncology Nursing Forum (ONF) and the Clinical Journal of Oncology Nursing (CJON) have unveiled advanced print exclusive articles to give our readers access to important, cutting-edge content ahead of print. Articles from the journals are available on the main ONF and CJON pages. These articles are open access, meaning they are available to members and non-members alike, until they appear in print at a later date. At that time, the content will become password-protected like other articles that appear in print as online exclusives in the journals.

The latest article to receive the advanced print exclusive designation is “The Oncology Phone,” by Kristen W. Maloney, Mary Denno, Teresa Kider, Kristen McClintock, Amy Moore, Therese Rutyna, Kathleen Wiley, and Mauri D. Sullivan. In this CJON article, the authors describe the planning, implementation, and evaluation of a phone consultation and intervention service designed to address increasing needs for specialty oncology nursing consultation and care for patients located on nononcology units.

Request more information about the advanced print exclusives from ONF and CJON.

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Special Interest Group Newsletter  June 2013

Journals Now Available in Digital Format

Did you know that the Clinical Journal of Oncology Nursing (CJON) and Oncology Nursing Forum (ONF) are now available in digital format? To access the digital editions, click on the journal you wish to view at www.ons.org/Publications and follow the instructions featured prominently in the top center of the page. The digital editions are a members-only benefit, so make sure you have your ONS username and password handy.

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Special Interest Group Newsletter  June 2013

Check out the New ONS Connect Blog

The official blog of ONS is written by oncology nurses for oncology nurses on a variety of topics of interest, including facing day-to-day challenges at work, juggling busy lives at home, and keeping up to date with the magnitude of information available for practicing nurses.

If you’d like to become an ONS blogger, please email socialmedia@ons.org for more information.

This month, you’ll find the following new discussions.

As a reader, join in on the conversation and connect with other oncology nurse readers by posting your own stories, tips, ideas, and suggestions in the comments section at the end of each blog post.

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Special Interest Group Newsletter  June 2013

Five-Minute In-Service

In the latest issue of ONS Connect, the Five-Minute In-Service explains how to Develop a Care Plan to Meet Specific Survivor Needs.

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Special Interest Group Newsletter  June 2013

The Cancer Journey Isn’t Only for Patients

Nurses can gain valuable knowledge and insight by reading the Traveling Companions blog on the Cancer Journey, ONS’s website devoted to patient and caregiver education.

If you’d like to write for the Traveling Companions blog, please email socialmedia@ons.org for more information.

This month, you’ll find the following new discussions.

Aged Beyond Their Years: When Teens Become Caregivers
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Special Interest Group Newsletter  June 2013

ONF Podcasts Tell “The Rest of the Story”

What is it like to be an adult survivor of childhood cancer? What physical effects occur long-term? What information would be helpful for survivors? Lead author Wendy McClellan, RN, BSN, presents information about the physical late effects and educational needs of adult survivors of childhood cancer as she discusses her May 2013 ONF article “Understanding the Functional Late Effects and Informational Needs of Adult Survivors of Childhood Cancer.” With the projected increase in the number of adult survivors of childhood cancer, pediatric oncology long-term follow-up programs afford an opportunity to provide education and screen for late effects. The descriptive mixed-method study featured in the article explores functional late effects, experiences, and educational needs of adult survivors. Understanding the needs of this unique population can guide patient education and nursing interventions for patients experiencing long-term effects from therapy and identify potential areas for future research.

Listen to an ONF podcast today!

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Special Interest Group Newsletter  June 2013

Membership Information

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Join a Virtual Community

A great way to stay connected to your SIG is to join its Virtual Community. It’s easy to do so. All you will need to do is

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Subscribe to Your SIG’s Virtual Community Discussion Forum
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Participate in Your SIG’s Virtual Community Discussion Forum

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Sign Up to Receive Your SIG’s Virtual Community Announcements
As an added feature, members also are able to register to receive their SIG’s announcements by e-mail.

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Special Interest Group Newsletter  June 2013

Cancer Genetics SIG Officers

Coordinator (2012-2014)
Jacqueline Hale, RN, APN-C, AOCN®, APNG
Flemington, NJ

Coordinator-Elect (2013-2014)
Catherine Belt, RN, MSN, AOCN®
Hatfield, PA

Patricia Kelly, DNP, RN, CNS, AOCN®
Dallas, TX


Web Administrator
Lisa Aiello-Laws, RN, MSN, APNG, AOCNS®
North Cape May, NJ

Special Projects
Julie Eggert, RN, PhD, GNP-C, AOCN®
Greer, SC

ONS Copy Editor
Jessica Moore, BA, BS
Pittsburgh, PA

Know someone who would like to receive a print copy of this newsletter?
To print a copy of this newsletter from your home or office computer, click here or on the printer icon located on the SIG Newsletter front page. Print copies of each online SIG newsletter also are available through the ONS National Office. To have a copy mailed to you or another SIG member, contact Membership/Leadership Specialist Carol DeMarco at cdemarco@ons.org or 866-257-4ONS, ext. 6230.

View past newsletters.

ONS Membership & Component Relations Department Contact Information

Brian K. Theil, CAE, Director of Membership and Component Relations Department

Diane Scheuring, MBA, CAE, CMP, Manager of Member Services

Carol DeMarco, Membership Specialist—SIGs

The Oncology Nursing Society (ONS) does not assume responsibility for the opinions expressed and information provided by authors or by Special Interest Groups (SIGs). Acceptance of advertising or corporate support does not indicate or imply endorsement of the company or its products by ONS or the SIG. Web sites listed in the SIG newsletters are provided for information only. Hosts are responsible for their own content and availability.

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