Volume 16, Issue 1, June 2012
A National Genetic Testing Registry
Will It Provide Useful Information?

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

I recently attended a genetics meeting during which a vendor presented a single nucleotide polymorphism (SNP) panel genetic test for identifying increased cancer risk. The presenter referenced one supporting study but did not include critical background information about the test sensitivity and specificity. The vendor was unable to provide the annual test volume or cumulative data on SNP panel results to date. I left the meeting feeling concerned and confused. I thought of current headlines about a national genetic testing registry.

The National Institutes of Health is scheduled to launch a Genetic Testing Registry (GTR) this year; it currently is available in a beta version. This registry will be a free, non-proprietary public database of genetic tests with information about the availability, validity, and clinical utility of specific genetic and genomic tests. It is designed to help healthcare providers decipher the confusing menu of some 2,500 diagnostic, predictive, risk assessment, and pharmacogenomics genetic tests on the market today.

The GTR has been in development for more than two years and is in part a response to the issues of direct-to-consumer (DTC) genetic tests. Most of us remember the news headlines when Walgreens decided to stock and then pull from the shelves a DTC personal genomic testing kit (Pollack, 2010). The subsequent media flurry highlighted the significant need for information, oversight, and transparency for genetic testing of all kinds—not just DTC. Submission to the GTR will be voluntary and its success will depend upon the data submitted and how professionals use and access the information.

As oncology nurses, we need to be familiar with the GTR and know how to evaluate the benefits and limitations of the various classifications of genetic and genomic tests, not just sequencing for single-gene hereditary cancer syndromes. We need to understand the terminology and ask the right questions. The ACCE model process, provided by the Centers for Disease Control's Office of Public Health Genomics, gives us the following guidance.

  • 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 issues: Ethical, legal, and social implications that may arise in the context of using the test

Time will tell whether the GTR will address the issues with the SNP profile information and other recently developed genetic tests. In the meantime, we will continue to question and assess— our best nursing skills.

I welcome feedback and response to this coordinator's message. To share additional thoughts, comments, resources, and analogies, please go to the CAG Virtual Community SIG discussion board.

Pollack, A. (2010, May 12). Walgreens delays selling personal genetic test kit. New York Times. Retrieved from http://www.nytimes.com/2010/05/13/health/13gene.html

Centers for Disease Control and Prevention. (2010). Public Health Genomics: Genomic testing. Retrieved from http://www.cdc.gov/genomics/gtesting/

National Center for Biotechnology Information. (2009). GTR: Genetic Testing Registry. Retrieved from http://www.ncbi.nlm.nih.gov/gtr/

U.S. Department of Health and Human Services. (2012). NIH News: Confused by genetic tests? New online tool may help. Retrieved from http://www.nih.gov/news/health/feb2012/od-29.htm

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 2012

A SIG Coordinator Postlude

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

It has been my honor and pleasure to serve as the CAG SIG coordinator for the 2010-2012 term. I am blessed to have a team of genetics colleagues from across the country that has provided invaluable support. I thank all SIG members who contributed comments, postings, newsletter articles, case presentations, instructional sessions, and more.

As of May 7, I have passed the CAG SIG coordinator baton to the capable hands of Jacqueline Hale, RN, APN-C, AOCN®, APNG. In her work life, she is the family risk assessment coordinator for the Hunterdon Regional Cancer Center in Flemington, NJ. Send a congratulations note to Jackie, and let her know of your volunteer interests!

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Special Interest Group Newsletter  June 2012

A Review of Male Breast Cancer

Rose Bell, ARNP-C, MSN, OCN®
Gig Harbor, WA

Male breast cancer (MBC) is a rare condition for which no routine screening guidelines exist and one which is frequently diagnosed in an advanced stage. The purpose of this article is to review the background, characteristics, and treatment for this unusual cancer.

The incidence of MBC is less than 1% in the United States. Rates of breast cancer in both men and women have been increasing steadily (Park, Kim, Koo, Park, & Lee, 2008). For men, rates are higher in blacks and non-Hispanics (Harlan, Zujewski, Goodman, & Stevens, 2010). Risk factors for both male and female breast cancer include genetic predisposition, radiation or environmental exposure, alterations in hormone levels such as in Klinefelter syndrome, and obesity. Men who experience occupational exposures such as working in high-temperature environments or the soap and perfume industry also are reported to be at risk for MBC (Taber, Morisy, Osbahr, & Dickinson, 2010).

Some cultural differences exist—an increased incidence of MBC is reported in sub-Saharan African men, at approximately 15%. The hypothesis is that endemic infections cause liver damage, which may lead to hyperestrogenism. For Korean men, MBC peaks in their 50s. This is approximately 10 years earlier than for men in western areas (Park et al., 2008).

Eighty-five percent of MBC is invasive ductal carcinoma. MBC is three times less likely to be HER2-positive in men, and approximately 50% of MBC is found to have axillary metastasis at the time of diagnosis. Presenting symptoms reported are similar to those of females with complaints of a painless lump or mass, nipple discharge, or change in appearance of the breast such as dimpling or retraction (Taber et al., 2010).

According to Myriad Genetics (2012), the lifetime risk of MBC is increased to approximately 8% in men who have a genetic BRCA mutation. Those with BRCA2 mutations have a significantly higher risk of breast cancer than those with BRCA1 mutations (Mohamad & Apffelstaedt, 2008). Where founder mutations are known, as in the Ashkenazi Jewish heritage, the incidence of MBC is higher than the average population risk. The presence of an Ashkenazi Jewish founder mutation also has been associated with a higher risk of prostate cancer (Mohamad & Apffelstaedt, 2008).

Several studies also have reported an increased risk of other cancers in males who carry a BRCA mutation including prostate, pancreatic, gastric, and hematological cancers. In fact, BRCA mutation may increase the risk of hematologic cancers by approximately 2,000-fold (Mohamad & Apffelstaedt, 2008). In male BRCA2 mutation carriers under age 65, risk for both prostate and pancreatic cancer is increased—the incidence of prostate cancer is reported to be three to five times that of the population risk. Studies also have reported a higher incidence of synchronous cancers (Harlan et al., 2010). Male BRCA mutation carriers are considered to be at high risk for colorectal cancers; therefore, colon cancer surveillance is recommended beginning at age 40. Some variance in cancer screening recommendations exists for affected versus unaffected male BRCA mutation carriers.

Screening Recommendations

Various screening recommendations exist for male BRCA mutation carriers (Mohamad & Apffelstaedt, 2008).

  • Breast Screening
    • Monthly breast self-examination and clinical breast exam every six months
    • Screening mammogram after age 40
  • Prostate Screening
    • Prostate-specific antigen (PSA) testing and digital rectal examination (DRE) annually between ages 50 and 75 (for those at risk ethnically, start at age 45)
    • Prostate screening by DRE and PSA annually by age 50—several recommendations suggest beginning at age 40.
  • Pancreatic Screening
    • Pancreatic surveillance should be considered, but no good screening methods presently exist.
    • Surveillance is suggested beginning 10 years prior to the earliest diagnosis of pancreatic cancer or at age 50—whichever comes first.
    • If the results of an annual endoscopic ultrasound is abnormal, then an endoscopic retrograde cholangiopancreatography (ERCP) should be performed. If any suspicious changes appear on the ERCP, a total pancreatectomy should be performed.
    • Male BRCA carriers without family history of pancreatic cancer should begin surveillance at age 50.
  • Other Cancer Screening
    • Mutation carriers should begin surveillance for gastric cancer at age 40.

Treatment of MBC in BRCA carriers is extrapolated primarily from women's studies. The hormone receptor studies and grades are similar in men when compared to post-menopausal women; however, estrogen and progesterone expression in MBC is reported to be 83%, which is higher overall than in women (Harlan et al., 2010). The most common surgical treatment of MBC is a modified radical mastectomy. In a male with a BRCA mutation, the standard recommendation is a contra lateral prophylactic mastectomy. Lumpectomy usually is not recommended because of decreased volume of breast tissue. Treatment with tamoxifen has resulted in survival benefit. Data presently are not sufficient to determine if any role for aromatase inhibitors exists (Mohamad & Apffelstaedt, 2008).

With increased interest in genetic mutation testing, awareness and interest in MBC issues have heightened. As with cancer treatment in general, detection, early treatment, and monitoring continue to serve as cornerstones for MBC and the male BRCA mutation carrier.

Harlan, L., Zujewski, J., Goodman, M., & Stevens, J. (2010). Breast cancer in men in the United States. Cancer, (116)5, 3558-3568. doi:10.1002/cncr.25153

Mohamad, H., & Apffelstaedt, J. (2008). Counseling for male BRCA mutation carriers: A review. The Breast, 17, 441-450. doi:10.1016/j.breast.2008.05.001

Myriad Genetics. (2012). PANEXIA®: Cancer risk associated with a BRCA2 or PALB2 mutation. Retrieved from https://www.myriadpro.com/test-offerings/genetic-testing/panexia

Park, S., Kim, J., Koo, J., Park, B., & Lee, K. (2008). Clinicopathological characteristics of male breast cancer. Yonsie Medical Journal, 49(6), 978. doi:10.3349/ymj.2008.49.6.978

Taber, K., Morisy, L., Osbahr, A., & Dickinson, B. (2010). Male breast cancer: Risk factors, diagnosis, and management (review). Oncology Reports, 24, 1115-1120.

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Special Interest Group Newsletter  June 2012

Survey Results:
Hereditary Cancer Risk Assessment and Genetic Testing, Nursing Role, and Educational Needs

In November, the CAG SIG sent a 22-question survey to the following SIGs and their members: Breast Care, CAG, Clinical Nurse Specialist, Nurse Navigator, Nurse Practitioner, and Prevention/Early Detection. Overall response rate was 5% (N = 303). The following are selected summary responses and key findings. To view responses to all questions, go to the Cancer Genetics SIG Virtual Community.

Background Information (n = 303)

  • Primary ONS SIG: The Nurse Practitioner SIG had the most respondents with 67 (22%), followed by the Breast Care SIG with 59 (19%). Forty-one respondents (14%) checked CAG as their primary SIG.
  • Genetic Services Provider (check all that apply): One hundred sixteen (38%) indicated that genetics services were provided by a genetic counselor; 106 (35%) by a physician; 81 (27%) by an advanced practice nurse (APN); and 51 (17%) by a registered nurse (not an APN). Forty-seven (16%) said services were provided by a team.
  • Reimbursement for Genetics Services (separate from testing costs): One hundred forty-five (48%) were unsure how their work setting obtained reimbursement; 56 (18%) responded that their facility billed third-party payers using standard evaluation and management coding; and 44 (15%) said their facility did not charge fees.

Hereditary Cancer Risk Assessment Providers (n = 126)

  • 69 (55%) were APNs, clinical nurse specialists, or nurse practitioners.
  • 79 (63%) were aged 50 and older.
  • 57 (45%) saw one to five patients per week.
  • 84 (67%) said they had on-the-job training (response to this question included "check all that apply" and other options).
  • 12 (10%) were credentialed as an APN in genetics or a genetics clinical nurse.

Greatest Educational Needs (check all that apply) (n = 126)

  • 67 (53%) consultation regarding difficult cases
  • 67 (53%) resources for client education
  • 60 (48%) interpretation of genetic testing results (e.g. variants of uncertain significance and mutation status)
  • 59 (47%) cancer risk assessment (models)
  • 58 (46%) recommendations for medical management of high-risk clients

Thank you to all who completed the survey. Findings will be used to plan future genetics educational programming. For questions about the survey, contact CAG SIG ex-officio Patricia Kelly, DNP, APRN, CNS, AOCN®, or you may post comments to the CAG SIG Virtual Community discussion board.

Acknowledgments: Carol DeMarco, membership specialist in ONS's Membership and Component Relations Department, and Margaret Irwin, RN, MN, PhD, and associate in ONS's Research Department, for assistance with survey development and implementation

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Special Interest Group Newsletter  June 2012

Lynch Syndrome International

Lynch Syndrome International (LSI) is an all-volunteer organization comprised of Lynch syndrome survivors, families of survivors, and healthcare professionals specializing in Lynch syndrome. According to LSI's Web site, the organization's primary mission is to "serve our global communities by focusing on providing support for individuals afflicted with Lynch syndrome, creating public awareness of the syndrome, educating members of the general public and health care professionals, and providing support for Lynch syndrome research endeavors."

Lynch syndrome is a hereditary disorder that causes affected individuals to be at greater risk for developing certain cancers— colorectal, endometrial, and other aggressive cancers—at a younger age. It is also called hereditary nonpolyposis colon cancer and is caused by a mutation in a mismatch repair gene.

LSI and its Web site are great resources for patient and professional educational materials. More information can be obtained by contacting LSI at:

Lynch Syndrome International
P.O. Box 5456
Vacaville, CA 95688
(707-689-5089, phone)

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Special Interest Group Newsletter  June 2012

Selected CAG SIG 2011 Highlights and Accomplishments

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Special Interest Group Newsletter  June 2012

PEP Update for SIGs

ONS is in the process of updating all of the evidence for the ONS PEP web-based resources. The topics of Anxiety, Constipation, CINV, Depression, Diarrhea, Dyspnea, Fatigue, Lymphedema, Mucositis, Pain, Peripheral Neuropathy, and Prevention of Infection are now updated through December 2010 publications and are expected to be available on the ONS Web site this summer. These topics and all other topics will be updated through December 2011 within this year. About 130 volunteers are involved in the PEP program as contributors or field reviewers and evidence from approximately 1,000 articles is being summarized.

A monograph for the CINV evidence is being developed and should become available by June-July 2012. A monograph for the updated Pain evidence also is being planned. Non-pharmacologic interventions will be included in the Pain topic. Some topics also likely will be developed this year for CJON articles.

New volunteers are continually being accepted to become involved in the development and field review of the ONS PEP resources, so anyone interested in becoming involved in this work should contact us at research@ons.org.

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Special Interest Group Newsletter  June 2012


RE:Connect is a blog written by oncology nurses on a variety of topics of interest to other nurses in the specialty, 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. This month on RE:Connect, 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 2012

Five-Minute In-Service

In the latest issue of ONS Connect, the Five-Minute In-Service takes a look at Managing Taste Dysfunction in Patients With Cancer.

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Special Interest Group Newsletter  June 2012

Do You Enjoy Writing?
Become an ONS Blogger

Join Patients and Caregivers on the Cancer Journey!
We're looking for oncology nurses to write for Traveling Companions, ONS's patient- and caregiver-focused blog. If you'd like to share your thoughts and comments to support patients and caregivers on the cancer journey, please e-mail us at socialmedia@ons.org for consideration.

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Special Interest Group Newsletter  June 2012

ONS Podcasts of Interest

ONF Podcasts
When does nausea and vomiting usually occur in children receiving chemotherapy? What strategies do they use to cope? How effective are these strategies? In this podcast, lead author Cheryl Rodgers, PhD, RN, CPNP, CPON®, addresses these questions and presents implications for oncology nurses as she discusses her March 2012 ONF article "Children's Coping Strategies for Chemotherapy-Induced Nausea and Vomiting." (Listen to ONF podcasts!)

Previous research investigating the frequency and duration of chemotherapy-induced nausea and vomiting (CINV) in pediatric patients with cancer has been limited. This descriptive study not only evaluates frequency, duration, and distress of CINV but also expands upon previous research. With a greater understanding of this chemotherapy symptom experience, effective management strategies can be developed for this patient population.

CJONPlus Podcasts
Listen in as CJON Associate Editor Mallori Hooker, RN, MSN, NP-C, AOCNP®, interviews Joanne Frankel Kelvin, RN, MSN, AOCN®. In Kelvin's April 2012 CJON's Oncology 101 column titled "Fertility Preservation for Patients With Cancer," she discusses the options for fertility preservation available to patients with cancer, regardless of their age, and the importance of having these discussions with patients early on in the cancer journey.

Also available is a podcast from April 2012 CJON's Heart of Oncology column. Two bouts with breast cancer and recent reconstructive surgery have helped put it all into perspective for award-winning oncology nurse Lillie D. Shockney, RN, BS, MAS. In this podcast, she shares her story about personal courage and paving a course for future oncology nurses as she reads the very funny, inspiring, and moving keynote address that she gave to the 2011 Johns Hopkins University School of Nursing graduating class. (Listen to CJON podcasts!)

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Special Interest Group Newsletter  June 2012

Membership Information

SIG Membership Benefits

  • Network with colleagues in an identified subspecialty area around the country.
  • Contribute articles for your SIG’s newsletter.
  • Participate in discussions with other SIG members.
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  • Participate in ONS leadership by running for SIG coordinator-elect or join SIG work groups.
  • Acquire information with a click of a mouse at http://ons.org/membership including
    • Educational opportunities for your subspecialty
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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

  • Visit the "Find a SIG" page.
  • Locate and click on the name of your SIG from the list of all ONS SIGs displayed.
  • Once on your SIG’s main page, click “Join Group,” and log in using your ONS Profile. Don’t have an ONS Profile? Create one today, and then return to your SIG to join.

Subscribe to Your SIG’s Virtual Community Discussion Forum
Once you have your log-in credentials, you are ready to subscribe to your SIG’s Virtual Community discussion forum. To do so,

  • Select "Log In," located next to "New User," and enter your information.
  • Next, click on the "Discussion" tab on the top right of the title bar.
  • Locate and select "Subscribe to Discussion"
  • Enter e-mail address.
  • Click "Finish."
  • You are now ready to begin participating in your SIG’s discussion forum.

Participate in Your SIG’s Virtual Community Discussion Forum

  • First, log in. (This allows others to identify you and enables you to receive notification [via e-mail] each time a response or new topic is posted.)
  • Click on "Discussion" from the top title bar.
  • Click on any posted topic to view contents and post responses.

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.

  • From your SIG’s Virtual Community page, locate the "Sign Up Here to Receive Your SIG’s Announcements" section.
  • Select the "Click Here" feature, which will take you to a link to subscribe.
  • Once the "For Announcement Subscription Only" page appears select how you wish to receive your announcements.
    • As individual e-mails each time a new announcement is posted
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    • Opt-out, indicating that you will frequently browse your SIG’s Virtual Community page for new postings
  • Enter your e-mail address.
  • Click on "Next Page."
  • Click "Finish"
  • You are now subscribed to receive announcements.
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Special Interest Group Newsletter  June 2012

Cancer Genetics SIG Officers

Coordinator (2010-2012)
Patricia Kelly, DNP, APRN, CNS, AOCN®
Dallas, TX

Coordinator-Elect (2011-2012)
Jacqueline Hale, RN, APN-C, AOCN®, APNG
Flemington, NJ

Rose Bell, ARNP-C, MSN, OCN®
Gig Harbor, WA


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

Special Projects
Julie Eggert, PhD, APRN-BC, 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.

Oncology Nursing Society
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Pittsburgh, PA 15275-1214

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