Volume 12, Issue 3, October 2008

Coordinator's Message
SIG Members Collaborate at ONS Congress

Lisa Aiello-Laws, RN, MSN, APN-C, APNG, AOCNS®
Philadelphia, PA

Congress 2008 was very exciting for the Cancer Genetics (CAG) SIG, with representation as program presenters and a very successful SIG meeting. I am excited and honored to begin my term as SIG coordinator.

Overview of Congress
We met in Philadelphia, the City of Brotherly Love (my home town), for our annual SIG meeting on Saturday, May 17, 2008. An educational session was presented titled “Establishing Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics.” Primarily, the goals of the session were (a) to identify nursing competencies related to genetics and genomics and (b) to identify strategies to implement competencies.

We had three great genetics sessions at Congress:

  1. Bench to Bedside: Profiling to Prevent Cancer--Dr. Lippman and J. Eggert
  2. Identifying the Family at Risk--sponsored by CAG SIG, M. Weinar, M. Arnold, and J. Loud
  3. Essential Nursing Competencies for Genetics/Genomics: Impact on Nursing Practice--K. Calzone, D. McDonald, and A. Masny

Everyone did a great job, and each session was well-attended!
Topics we discussed at our SIG meeting included:

  1. SIG members can sign up on the Virtual Community to be part of the list serve in three areas: announcements, calendar, and discussion. People need to sign up individually for each list serve.
  2. It was suggested that in addition to the professional and patient-related educational links on the Virtual Community, we could also include assessment tools and forms.
  3. The International Society of Nurses in Genetics conference will be held in Philadelphia on November 8-11, 2008.

We defined our mission as:

  1. Achieve quality cancer genetics care.
  2. Ensure the RN role in cancer genetics care.
  3. Promote evidence-based nursing practice in cancer genetics.
  4. Enhance CAG SIG and ONS viability.

Also, an announcement was made that GINA passed in the House and Senate.

Members asked how they can become more active in the SIG. Some suggestions included writing an article for the newsletter or holding a leadership position (such as coeditor, coordinator-elect, Virtual Community Web administrator).

We then had an open discussion regarding ideas and future SIG projects. The topics included

  1. Increase genetic content in OCN®, AOCNS®, and AOCNP® examinations.
  2. Include link on Web site to competency slides (from Congress presentation).
  3. Consider whether to change our SIG name to Risk Assessment, because cancer genetics is pervasive throughout all of the SIGs.
  4. Determine whether and how to develop an education program or continue the genetics mini-course. Questions asked were whether support could be obtained from ONSEdge, and whether it should be developed as an educational program for chapters, such as the clinical trial program was developed and disseminated.
  5. Feature our members in the newsletter.
  6. Refer to ONS Mentoring Program for mentoring within the SIG.
  7. Make additions to Virtual Community:
    1. Link to position statement and scope of practice.
    2. Link to National Cancer Institute search.
    3. Post “staged” questions to start discussion; begin with common questions and issues.

Please welcome our newest leadership member, Julia Eggert, who is our Virtual Community Web administrator.

My request to all of you is to think about a SIG project you would like to take part in. Please contact me with your ideas.

Two ideas at this point are

  1. Continue the Genetics Short Course, or develop something like it.
  2. Develop the discussion board so members can use it as a worthwhile tool.

If you are interested in being involved in either of these, please let me know. I look forward to a productive term as coordinator. And I hope to assist our SIG in its growth and visibility.


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  October 2008

Returning to Graduate School for a Doctor of Nursing Practice Degree

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

I recently obtained my doctor of nursing practice (DNP) degree from the School of Nursing at the University of Maryland, Baltimore. My colleagues within the Cancer Genetics SIG invited me to describe my graduate school experience and share it with my ONS colleagues. As many nurses are discovering, the DNP is a practice-focused doctorate developed on the recommendations of the American Association of Colleges of Nursing’s “Position Statement on the Practice Doctorate in Nursing” and on their “Essentials of the Doctoral Education for Advanced Nursing Practice.” The specific content areas within a DNP program vary somewhat among academic institutions. However, graduates of DNP programs are expected to demonstrate the ability to

  1. Evaluate and apply evidence-based practice for education, clinical practice, systems management, and nursing leadership.
  2. Lead at the highest educational, clinical, and executive levels.
  3. Analyze and apply scientific knowledge and related skills for the highest level of nursing practice.
  4. Design, implement, manage, and evaluate complex organizational systems.
  5. Initiate, facilitate, and participate in collaborative, multidisciplinary efforts to influence healthcare outcomes.

For me, the DNP degree accurately reflects the current clinical complexity of advanced practice nursing in daily practice and supports the practice in an ever-changing healthcare system. This evolution in nursing doctoral education is comparable to the clinical doctoral preparation of other healthcare professionals.

How to describe returning to graduate school, mid-career and working full time? As many nurses have done before me, I juggled, stressed, worked weekends, asked favors of family, friends, and colleagues, begged for my husband’s patience and love, lost many nights’ sleep, and finally persevered to achieve my DNP. Yahoo!

The DNP was the perfect educational program for me. Since I am a practice-focused nurse practitioner, the DNP provided me the opportunity to master a set of skills that I had not had the time to master before. For example, I had wanted to know how to evaluate and establish evidence for practice but did not have the time or skills. I had wanted to know how to manage complex organizational systems but did not have a clue where to begin. The program has allowed me to pursue new professional opportunities within the National Cancer Institute and given me the confidence to make decisions based on a new knowledge base.

The members of my class (N = 20) were from different areas of nursing. The class was composed of clinical nurse specialists, nurse educators, nurse managers, nursing regulatory experts, nursing informaticians, and nurse anesthetists, in addition to nurse practitioners. I learned a lot from my fellow students and from the entire academic community at the University of Maryland. I took classes and worked on projects with PhD and master’s students. This enhanced my DNP education by demonstrating how our different training and skill sets complemented one another’s. I looked to my PhD colleagues for their methodology expertise; they looked to me for my practice expertise. I believe that DNP and PhD nurse scientist collaborations will inform and enrich one another’s practice and research.

I strongly recommend that advanced practice nurses, and all nurses who are contemplating nursing graduate school, evaluate the benefits and differences between DNP and PhD programs. Many practice-focused nurses will find the DNP educational content to be more relevant to their future professional career goals and will provide the skills necessary for a successful, rewarding healthcare career.

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Special Interest Group Newsletter  October 2008

News You Can Use From the National Cancer Institute

newsUpdate on Genetic and Genomic Technologies from the National Cancer Institute (Accessed August 14, 2008, from www.cancer.gov/newscenter)
Submitted by Jennifer T. Loud, RN, CRNP, DNP
Derwood, MD

Researchers Develop a Method to Evaluate Variations Identified in Breast Cancer Susceptibility Genes

Using mouse embryonic stem cells, researchers at the National Cancer Institute (NCI), part of the National Institutes of Health, have developed a new method to evaluate which mutations, or changes, in a gene known to increase breast cancer susceptibility, may lead to cancer. The new test, called a functional assay, is more comprehensive and reliable than most current methods. This new test could become a useful and viable tool for genetic counselors and may have implications beyond cancer. The researchers believe that this test also could be useful for analyzing mutations found in other human disease-related genes. The results of this research are published in the August 2008 issue of Nature Medicine.

The proteins produced by the BRCA1 (breast cancer gene 1) and BRCA2 genes normally help to maintain the integrity of the cell’s genetic material and function as tumor suppressors. For more than a decade, it has been known that alterations or defects in BRCA1, BRCA2, and their associated proteins are linked to increased risks of early-onset familial breast and ovarian cancers. Studies have shown that a woman who has a mutation in one of these genes has a 35%–85% risk of developing breast cancer by age 70, compared to the average American woman’s lifetime risk of 12.3%.

Some individuals who want to know if they have inherited a mutation in a gene such as BRCA1 or BRCA2 that will increase their risk of developing breast or ovarian cancer are now choosing to go for genetic testing. Such tests can provide reassuring information to those who do not have harmful mutations and can be helpful to those with BRCA1 or BRCA2 mutations because when they know that they are at risk, they can work with their physicians to find the course of action that is best for them.

“However, think about those individuals who are tested and find out that they have an unclassified [minor or previously unknown] change in these genes, and they do not know what it means,” said senior author Shyam Sharan, PhD, of the NCI’s Center for Cancer Research. “There is reason to believe that a significant number of women fall into this category, and our assay is likely to improve our understanding of unclassified mutations because it allows for analysis of all types of BRCA2 mutations.”

Existing methods to distinguish between harmful and minor, or neutral, alterations in the BRCA1 and BRCA2 genes are based on data from segregation analysis, which looks at genetic alterations in families with a high incidence of cancer, and uses gene sequencing to detect the presence of a genetic variation. However, this approach has limitations. Most alterations, or variants, are rare, and familial data can be insufficient, resulting in a lack of a suitable test to assess more than 1,900 known BRCA1 and BRCA2 variations. In addition, there is currently no suitable way to evaluate minor or less common mutations in the BRCA1 and BRCA2 genes. This new functional assay expands the ability to analyze mutations in the BRCA2 gene by examining the effect that these variations have on the cell.

The researchers hope other human disease gene functions may be evaluated in a similar fashion using this type of analysis. This represents an efficient method of analysis in which three to five gene variants can be analyzed in two to three months. The researchers have provided preliminary validation of the functional assay by testing 17 variants, and have established the reproducibility of the technique for BRCA2. They caution, however, that only when this technique is approved by the U.S. Food and Drug Administration for use in a clinical setting will it be available to patients for diagnostic testing.

BRCA2 Linked to Prostate Cancer Incidence and Aggression

A study by researchers in Australia and Canada shows that BRCA2 mutation-positive men from BRCA mutation-positive families have 3.5 times the risk of developing prostate cancer and are at higher risk of aggressive prostate cancer compared with the general population. No increase in prostate cancer risk was observed in BRCA1 mutation-positive men in this study. The report appeared in the May 15 issue of Clinical Cancer Research.

The researchers examined 137 families that were known to have germ-line BRCA1 or BRCA2 mutations and that also had at least one male member who was diagnosed with prostate cancer. Among these families, 158 such men were candidates for the study. Lack of available prostate biopsies limited the analysis to 18 prostate cancer patients, 4 of whom carried germ-line BRCA1 mutations and 14 with germ-line BRCA2 mutations.

Loss of heterozygosity--in which one copy of a defective gene is inherited and the other copy becomes defective some time after birth, perhaps due to environmental factors--was detected in the prostate tumor tissue from 10 of the 14 BRCA2 carriers. The men whose cancers displayed loss of heterozygosity had exceptionally high Gleason scores of 7–9 (the median score was 9), and they had stage II or higher cancers.

“Although the sample size is small,” the authors wrote, “these results indicate that BRCA2 has the hallmarks of a tumor suppressor and is the likely cause of the prostate cancer in a substantial portion of carriers who are diagnosed with the disease.”

The data add to prior information suggesting that prostate cancer may be part of the hereditary breast/ovarian cancer syndrome. The researchers added that no data exist to support a mechanism by which BRCA2 may cause prostate cancer.

The authors noted that BRCA2 mutation-positive (but not BRCA1 mutation-positive) men from hereditary breast/ovarian cancer families should be considered to be at significantly increased risk of prostate cancer by clinicians responsible for their care. They also suggested that additional evidence is required to formulate the specific screening advice and optimal management recommendations required to reduce the burden of prostate cancer in genetically at-risk men.

APC 5-Year Results: Adenoma Recurrence Reduced, Cardiac Risks Clearer

The five-year results of the Adenoma Prevention with Celecoxib (APC) trial indicated that two years after daily use of celecoxib (Celebrex®, Pfizer Inc.) has ended, there continues to be a modest reduction in the recurrence of colorectal polyps.

Initially presented at the 2006 American Association for Cancer Research (AACR) annual meeting, the trial’s results showed that compared with placebo, adenoma recurrence and advanced adenoma recurrence were significantly reduced in participants who took celecoxib daily for three years. Participants, all of whom had previously had lesions removed, had significantly fewer total adenomas and advanced adenomas at three years.

Speaking at the 2008 AACR annual meeting in San Diego, California, the trial’s lead investigator, Dr. Monica Bertagnolli, reported that although the effect diminished after the drug was discontinued, a treatment benefit was still present at five years. Celecoxib use, however, was associated with an increased risk of serious side effects, including heart attacks and strokes. The safety analysis suggested that these serious adverse events were greatest in participants with preexisting cardiovascular risk factors.

Overall, compared with participants in the placebo arm, advanced adenoma risk was reduced by 41% among patients taking the 400 mg/day dose and 26% among patients taking the 800 mg/day dose.

The results, said Dr. Bertagnolli, of Brigham and Women’s Hospital, demonstrated that cyclooxygenase (COX)-2 inhibitors “are risky for some patients.” But, she continued, “our study also shows that for patients without major cardiovascular risk factors, celecoxib at low doses protects against high-risk lesions that can lead to colon cancer.”

These results come on the heels of a more extensive, National Cancer Institute-funded cross-study safety analysis of six placebo-controlled studies involving celecoxib. These data were presented in late March at the annual meeting of the American College of Cardiology. That analysis showed a threefold increased risk of cardiovascular events in patients given the highest celecoxib dose but also showed that risk was significantly higher among study participants with underlying cardiovascular risk factors.

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Special Interest Group Newsletter  October 2008

Member Feature
Meet the SIG’s New Virtual Community Web Administrator

Julie Eggert, RN, PhD, GNP-C, AOCN®, is a nurse practitioner faculty member at Clemson University. She is pleased to announce that Clemson University is offering a new PhD degree in healthcare genetics. Julie worked with Bon Secours St. Francis Hospital and began a Cancer Risk Screening Program (called CRiSP). While she misses patient care after going to academia, this was an exciting new challenge. Julie has been a Genetics SIG member for one year and is excited about working as the new coeditor and Virtual Community administrator. Julie asks for everyone’s patience during her learning curve. She looks forward to meeting everyone virtually and in person. Welcome, Julie!

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Special Interest Group Newsletter  October 2008

In the Family
Filmmaker Shares Personal Story of Genetic Risk

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

I had the opportunity to attend a screening of In the Family, a film by Joanna Rudnick, earlier this summer at the American Film Institute in Silver Spring, Maryland (a suburb of Washington, DC). Working with young women from families with known mutations in BRCA1 and BRCA2, I have become aware of the unique dilemmas young women face when making decisions about cancer risk management. The film portrays one woman’s approach to the decisions faced by all individuals from families at high genetic risk for developing cancer and the particularly painful decisions young female BRCA1 and BRCA2 mutation carriers face. The film is simultaneously intelligent, educational, amusing, and heartbreaking. I recommend that all oncology nurses see this film to gain an appreciation of the issues that high-risk families encounter as they learn of their cancer risk and make decisions to manage that risk. The following is part of a PBS advertisement for In the Family, which will air on PBS this October (www.inthefamilyfilm.com; www.pbs.org/pov).

How much would you sacrifice to survive? When Chicago filmmaker Joanna Rudnick tested positive for the “breast cancer gene” at age 27, she knew the information could save her life. She also knew she was going to have to make heart-wrenching decisions about the life that lay ahead of her as she confronted mortality at an early age. Should she take the irreversible preventive step of having her breasts and ovaries removed, or risk developing cancer? What would happen to her romantic life, her hopes for a family? IN THE FAMILY documents Rudnick’s efforts to reach out to other women while facing her deepest fears. IN THE FAMILY is co-production of Joanna Rudnick, Kartemquin Films and Independent Television Service (ITVS).
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Special Interest Group Newsletter  October 2008

Direct-to-Consumer Marketing for Genetic Testing
One State's Response

marketingSubmitted by Millie Arnold, RN, BS, OCN®, CCRC, Linda Robinson, MS, CGC, and Becky Althaus, RN, PhD, CGC

Direct-to-Consumer (DTC) advertising in health care is expanding from advertisements for medicines to genetic testing. At this time, no federal guidelines have been developed for genetic testing as they have been for prescription drugs.1 DTC marketing for genetic testing presents new issues and controversies. Concerns include (a) inappropriate low-risk women will request genetic testing, (b) no pre- or post-test counseling by qualified professionals, and (c) the probability of poor use of healthcare dollars for inappropriate testing. According to Myriad Genetics Laboratories, Inc., BRCA1 and BRCA2 tests for hereditary breast and ovarian cancer have been available since 1996, but only 3% of women believed to carry mutations have been identified. Myriad Genetics initiated an initial pilot DTC marketing campaign promoting BRCA genetic testing in 2003 to Atlanta and Denver. In September 2007, this company initiated the DTC campaign to the Northeast United States and will expand to Texas and Florida in September 2008.

According to the American Cancer Society, breast cancer affected approximately 184,450 women in 2008.2 However, less than 1% of the general population is estimated to carry a mutation in BRCA1 or BRCA2. It has been estimated that approximately 5%–10% of women with breast cancer in the United States will test positive for these mutations. One concern is that the demand for testing with DTC advertising will come largely from the low-risk population.3

Myriad Genetics has a 60-second television commercial advertising that women who are concerned about breast cancer can contact their personal physician or call a toll-free number to Myriad to learn about genetic testing. This marketing campaign also will consist of radio and print advertisements. Most patients will not be referred to genetic professionals for pre- and post-test genetic counseling.

On April 15, 2008, the Dallas/Ft. Worth (DFW) Cancer Genetics Group learned that Myriad Genetics, Inc., was planning to launch a DTC marketing campaign in Texas in September 2008 for BRCA1 and BRCA2 genetic tests. The DFW group has existed for seven years and consists of genetic counselors, oncology nurses, laboratory representatives, and physicians who meet regularly to learn from challenging genetic cases, update the group about current genetic cancer information, and provide hereditary cancer education to the high-risk DFW community.

Genetics professionals in the DFW group launched a response plan focusing on six initiatives to prepare local and state resources of the upcoming DTC campaign. This model for education in response to any DTC medical marketing campaigns can be applied to other states and other DTC campaigns. Any DTC campaign by a private for-profit company can be complemented by an educational campaign by medical professionals. Below is the approach to education taken by the DFW group.

  1. Local initiatives: Each DFW group member was encouraged to develop a response plan. A fact sheet about BRCA genetic testing was developed with the input from cancer genetic professionals from across the state, the Texas Medical Association (TMA), and the genetic counseling community in New York. Multiple lectures, conferences, and mailings were completed on BRCA gene testing.
  2. State initiatives: The TMA was informed of the DTC campaign. The TMA established a steering committee and published an article in the Texas Monthly physician newsletter informing the members of the upcoming DTC campaign. A poster was created for clinicians and sent to more than 50,000 physicians about BRCA gene testing. The fact sheet about BRCA genetic testing was posted on the TMA Web site. The group worked with the Nursing Oncology Education Program to establish a continuing education presentation on cancer genetics. The Physicians Oncology Education Program also was provided available genetic professional resources to provide cancer genetic education presentations. The State Department of Health was provided written information about the DTC campaign. Various agencies in the Department of Health were provided information and currently are planning a campaign targeting consumer awareness regarding genetic testing.
  3. Insurance company initiatives: Letters were mailed to insurance companies informing them about the DTC campaign. The focus of the letter was to inform about potential increased queries about genetic testing and emphasize the significance of pre- and post-testing genetic counseling by genetic professionals.
  4. Organization awareness initiatives: Members of the group met with the Susan G. Komen for the Cure Foundation, the American Cancer Society, and the National Ovarian Cancer Coalition to educate staff about the upcoming DTC campaign.
  5. Texas cancer genetic counselor initiatives: Select members of the group communicated with Myriad Genetics Laboratories, Inc., the National Society of Genetic Counselors, the National Cancer Institute Web site, and the Texas Society of Genetic Counselors to confirm that appropriate genetic professional resources were current for the Dallas/Fort Worth area.
  6. Texas physician and Texas nurse initiatives: The group published a basic patient-focused article for physicians and nurses regarding the DTC campaign. Targeted organizations were the Dallas County Medical Association, the Tarrant County Medical Association, the Texas Medical Association, the Texas Nurses Association, local chapters of the Oncology Nursing Society, and gynecologic nurses. Each member was assigned an organization and encouraged to write an article informing professionals of the DTC campaign with resources for genetic counseling and genetic testing.

All correspondence from the DFW group regarding the DTC campaign emphasized standards of practice in hereditary cancer predisposition testing that many professional organizations (American College of Medical Genetics, American Society of Clinical Oncology, Oncology Nursing Society, Society of Gynecologic Oncologists, and National Society of Genetic Counselors) have developed. All professional standards emphasize the importance of pre- and post-test genetic counseling as an essential aspect of care for individuals and families undergoing cancer risk assessment, counseling, and testing. Understanding the benefits, limitations, and cancer risk reduction options associated with hereditary cancer and genetic testing is an essential step in providing informed consent prior to genetic testing.

The DFW cancer genetics group is a good model for proactively educating and preparing local healthcare providers for what has inevitably become the future of genetic testing. All healthcare professionals have a responsibility to become more educated about genetics and the appropriate use of genetic testing for hereditary cancer predisposition.

1American College of Medicine Genetics Board of Directors. (2008, April 7). ACMG statement on direct-to-consumer genetic testing. Retrieved July 6, 2008, from http://www.acmg.net/AM/Template.cfm?Section=Policy_Statements

2American Cancer Society. (2008). Cancer facts and figures, 2008. RetrievedSeptember 23, 2008, from http://www.cancer.org

3Pollack, A. (2007). A genetic test that very few need, marketed to the masses. New York Times, p. C3.

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Special Interest Group Newsletter  October 2008

Membership Information

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Join a Virtual Community

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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  October 2008

Cancer Genetics SIG Officers

Coordinator (2008-2010)
Lisa Aiello-Laws, RN, MSN, APNG, AOCNS®
North Cape May, NJ

Ex-Officio (2008-2009)
Jennifer Loud, RN, CRNP, DNP
Derwood, MD

Millie Arnold, RN, OCN®, CCRC
Mesquite, TX


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

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

ONS Publishing Division Staff
Amy Nicoletti, BA
Staff Editor

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