Volume 17, Issue 2, August 2013
 
   
Coordinator’s Message
Lead the Charge

Jacqueline Hale, RN, APN-C, AOCN®, APNG
Flemington, NJ
Hale.jacqueline@hunterdon
healthcare.org

This spring marked a major graduation anniversary for me—I am celebrating 40 years as a registered nurse. Over those years, I often have made comments that start, “When they put that cap on my head, I never expected (fill in the blank).” I have used hundreds of observations to fill in that blank over the past 40 years. I am not going to take you on a trip down my memory lane. It is very long, and I am sure you have plenty of memories of your own. Instead, I would like for all of us to look at those unexpected opportunities that genetics and genomics have brought to our nursing careers. We also should look at the rate of escalation in those opportunities resultant from genetic application in health care.

When they put that cap on my head, I never expected that in 40 years I would be explaining the Genetic Information Nondiscrimination Act, personalized medicine, pharmacogenomics, and Supreme Court decisions. I never expected to be teaching nurses and other healthcare professionals about the ways in which genetic information will change their practice. I never expected to be teaching families that they can manage their cancer risk through genetic information. I never expected to use genetic information to assess risk for recurrence and make medical management and screening decisions. I never would have predicted that families at high risk for cancer due to a genetic mutation could use genetic information and assisted reproduction technology to support reproductive decisions. This is just a fraction of the integration of genetic and genomic information into healthcare, and especially oncology, in 2013. In short, I never expected to be an author, teacher, mentor, or expert resource. I never expected to be the “go-to” person for genetics.

I encourage you to look at the personal and professional opportunities that genetics have brought to you and how you will use them in your career. Members of our SIG have developed teaching and presentation skills shared in professional and community settings. Members have set standards in integrating genetics and genomics into oncology care. The guidelines and frameworks they have developed have established the models on which other medical specialties are building programs. Members have published, taught, guided, and conducted research. Members use genetic and genomic information in the classroom, at the bedside, and while counseling and teaching families. We work in clinical, research, and commercial settings. We are visible, and we make a difference. We can “lead the charge.”

 
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  August 2013
 
   

“Oh, and By the Way . . . “:
A Lynch Syndrome Story

Alice Kerber, MN, APRN, ACNS-BC, AOCN®, APNG
Atlanta, GA
akerber@outlook.com

Families are communities within themselves–full of intrigue, adventures, worries, joys, and assorted characters. To one family, each event may be a crisis, while to another, each crisis may be just an expected event. For each, some tipping point changes perspective on the situation.

Such was the case with family L. I met this family four years ago when the son (AL) was referred to me by a gastroenterologist for genetic education and possible testing after a normal colonoscopy. His 27-year-old sister (BL) had just been diagnosed with stage IV colon cancer and was in the process of recovering from surgery and was about to begin chemotherapy. Her genetic testing was pending at another facility. I left a phone message for AL. His mother (CL) returned my call, explaining that her son was 18 and had just gone back to college for the semester and wanted to know if she and her husband (DL) could come talk to me instead.

We made the appointment, and I gave them educational materials and explained what family history information (three generations, maternal and paternal, cancers–age of diagnosis, death, and any other specifics) they should collect in order to develop a pedigree for the family. On the phone, CL said “not much cancer” was on either side, and they were surprised by their daughter’s diagnosis.

At the appointment, we discussed Lynch syndrome, associated cancers, and mismatch repair genes as a differential diagnosis for their daughter. They had not participated in any discussion with her genetic counselor, explaining they were a very private family and wanted to keep information contained. Information about her diagnosis was discussed only in general terms. We discussed insurance concerns and privacy issues.

At this point, we had developed some rapport, and I began to collect the family history. They had two children in addition to BL—AL and a 24-year-old female (EL), both of whom had recently had negative colonoscopies. CL had some relatives with diabetes and heart disease but no cancer of which she was aware. Her parents were alive and well in their 80s, and her sister and brother were both alive and well in their late 60s. DL revealed that he had colon cancer in his 40s (he was 65 at the time of this appointment) that was successfully treated with surgery. His sister had been diagnosed with uterine cancer, died at age 60, and “had always had female problems.” He had no other siblings. I asked about his parents, and he said, “Oh, and by the way . . . “ His mother and all nine of her brothers and sisters were diagnosed with colon cancer in their 40s, had surgery, and were alive and in their 80s. I was impressed by this as he went on to say that his family really didn’t see colon cancer as a problem, as his relatives had surgery and lived normal lifespans. Colonoscopies were something everyone in the family did every year starting at age 30. It was only his daughter’s diagnosis that “seemed like a problem or really counted as cancer.” They were aware that she was younger, had symptoms, and had a more advanced stage of disease at diagnosis. This was different and a bit disconcerting for this otherwise seemingly unflappable family. We drew a pedigree, which seemed to point to at least a familial tendency for colon cancer.

At that point, CL and DL were ready to go home, consider the information they had been given, and help their daughter recover. As their other two children had recent normal colonoscopies, they would wait to make any decisions about genetic testing until their affected daughter’s testing results were known. They would contact me when they were ready to move forward.

Two Years Later
CL called. DL had a recurrence of his colon cancer and wanted to be tested. BL had a deleterious mutation in MLH1, had completed her chemotherapy, and was doing well. When we met, we discussed single-site testing because we knew of a familial deleterious mutation. However, they preferred full sequencing, which included MLH1, MSH1, MSH2, PMS2, and EPCAM in order to obtain the most information. While waiting for results, DL had consultations with colorectal surgeons. When his testing came back with the same nonsense mutation as his daughter (MLH1, K461x), a total colectomy was recommended and completed within three weeks of testing.

During DL’s surgical stay, EL approached me for information about the testing process and potential impact on her. She was 26 years old, engaged to be married, and starting a new job. In light of two first-degree relatives with this same mutation, single-site testing was recommended. I met with her and her fiancé (together and separately) several times prior to testing and discussed potential results, general information about Lynch syndrome, impact on insurance, risk for cancer and potential to pass on a mutation with childbearing, risk-reduction interventions, and surveillance recommendations. She proceeded to obtain life insurance. She had single-site testing that revealed she had the same deleterious nonsense mutation. She was referred to a gastroenterologist and gynecologist for follow-up and surveillance per National Comprehensive Cancer Network guidelines. She married six months later.

To date, AL, now 21 years of age, has not had testing or counseling but has annual colonoscopies. His sisters continue to encourage him to have testing. I have given him counseling resources that are closer to his school.

In conclusion, members of a family will not necessarily respond the same way to information or a situation. Our responsibility is to provide resources, education, and opportunities to express concerns in a non-threatening environment—oh, and by the way . . . in their timeframe.

 
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Special Interest Group Newsletter  August 2013
 
   

NCCN Guidelines Update:
Hereditary Cancer

Karen Heller, MS, CGC
Dallas, TX
kheller@myriad.com

Teri Howell, RN, BSN, OCN®, CBCN®
Suffolk, VA
thowell@myriad.com

The National Comprehensive Cancer Network (NCCN) has helpful guidelines for hereditary cancer syndromes on its Web site in the section “NCCN Guidelines for Detection, Prevention, & Risk Reduction.” Selected hereditary breast and ovarian cancer and hereditary colorectal cancer guideline changes are outlined in this article. Refer to the NCCN Web site for a complete review of the guidelines and all changes. Recommendations are, unless otherwise specified, category 2A, “based upon lower-level of evidence, there is uniform NCCN consensus that the intervention is appropriate” (NCCN, 2012).

Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 3.2013

The following are additional testing criteria for hereditary breast and ovarian cancer (NCCN, 2013b, HBOC-1).

  • Breast cancer diagnosed at any age with just one affected relative if that relative has breast cancer at age 50 or under or has epithelial ovarian cancer
  • Breast cancer diagnosed at any age with at least two relatives with pancreatic cancer or aggressive prostate cancer (Gleason score > 7)
  • Personal history of aggressive prostate cancer (Gleason score > 7) with at least two relatives with breast, ovarian, pancreatic, or aggressive prostate cancer
  • As before, an affected relative may be first-, second-, or third-degree.
  • An unaffected individual whose first- or second-degree relative meets criteria for testing still meets criteria. However, the “family history only” section has an added comment. “Clinical judgment should be used to determine if the patient has reasonable likelihood of a mutation, considering the unaffected patient’s current age and the age of female unaffected relatives who link the patient with the affected relatives” (NCCN, 2013b, HBOC-1).

The following are updates to management guidelines for hereditary breast and ovarian cancer (NCCN, 2013b, HBOC-A).

  • Breast self-exam is now referred to as “breast awareness” starting at age 18, with the following footnote. “Women should be familiar with their breasts and promptly report changes to their healthcare provider. Periodic, consistent breast self-exam (BSE) may facilitate breast self-awareness. Premenopausal women may find BSE most informative when performed at the end of menses” (NCCN, 2013b, HBOC-A).
  • Although surveillance guidelines continue to include annual mammograms and breast magnetic resonance imaging (MRI) starting at age 25, a new footnote states that “the best screening strategy for women age 25–30 is uncertain with some data suggesting that mammogram be added to MRI only after age 30” (NCCN, 2013b, HBOC-A).
  • A new bullet was added. “Address psychosocial, social, and quality-of-life aspects of undergoing risk-reducing mastectomy and/or salpingo-oophorectomy” (NCCN, 2013b, HBOC-A).
  • The footnote about chemoprevention now includes the following. “Other chemoprevention options for breast cancer include tamoxifen and raloxifene; however, only very limited data with these agents are available in patients with BRCA mutations” (NCCN, 2013b, HBOC-A).
  • For men, the age to consider prostate cancer screening is now specifically stated as 40.
  • Regarding surveillance for pancreatic cancer and melanoma, no specific guidelines exist, but “screening may be individualized based on cancers observed in the family” (NCCN, 2013b, HBOC-A).

Li-Fraumeni syndrome testing criteria now include breast cancer at age < 35 with negative BRCA1/2 test. Previously, it was < 30 (NCCN, 2013b, LIFR-1).

Li-Fraumeni syndrome management includes annual mammogram and breast MRI starting at age 20–25, and a new footnote states, “Given theoretical concerns with harmful effects of radiation exposure in Li-Fraumeni syndrome, for patients age 20–30 years, annual MRI-only screening may be sufficient based on physician’s discretion” (NCCN, 2013b, LIFR-1).

Cowden syndrome major criteria of non-medullary thyroid cancer are now specified as follicular thyroid cancer. The following were added as minor criteria: colon cancer, esophageal glycogenic acanthosis (> 3), papillary or follicular variant of papillary thyroid cancer, testicular lipomatosis, and vascular anomalies (including multiple intracranial developmental venous anomalies). Removed as minor criteria were fibrocystic disease of the breast, fibromas, and uterine fibroids due to “insufficient evidence” (NCCN, 2013b, COWD-1).

A new section in the guideline on “additional genetic mutations associated with breast/ovarian cancer risk” contains brief summaries of hereditary diffuse gastric cancer syndrome, Peutz-Jeghers syndrome, and Lynch syndrome (NCCN, 2013b, GENE-1). Multi-gene panels using next-generation sequencing are stated as being intended for individuals who have tested negative for high penetrance genes and those whose family history is suggestive of more than one syndrome. Limitations are listed, including variants of unknown significance, uncertain level of risk, and lack of management guidelines. It is suggested that panels only be ordered in consultation with a cancer genetics professional.

Colorectal Cancer Screening, Version 2.2013

The increased risk based on personal history of colorectal cancer guideline now includes a recommendation for Lynch syndrome screening by microsatellite instability or immunohistochemistry at the time of colon cancer diagnosis either for all patients with colorectal cancer, or for patients diagnosed with colorectal cancer aged < 70 years and also those aged > 70 years who meet the Bethesda guidelines (NCCN, 2013a, CSCR-4).

The increased risk based on positive family history guideline includes a simplified schedule for colonoscopies based on family history, but the recommendations for those with an affected first-degree relative have not changed (NCCN, 2013a, CSCR-4).

The Lynch syndrome management guidelines have been modified with separate guidelines for MSH6 carriers and PMS2 mutation carriers (NCCN, 2013a, LS2-3).

The following are changes to surveillance recommendations for MLH1 carriers and MSH2 mutation carriers

  • Colonoscopy recommendations remain the same—starting at age 20–25 and repeating every 1–2 years.
  • A bullet was added stating that aspirin “may decrease the risk of colon cancer,” but “the data are not sufficiently robust to make a recommendation for its standard use” (NCCN, 2013a, LS-2).
  • Consideration for esophagogastroduodenoscopy has changed to every 3–5 years.
  • Capsule endoscopy is no longer mentioned.
  • A bullet was added about possible increased risk for breast cancer, but no screening recommendations are made due to limited data.

The following are recommendations for MSH6 mutation carriers.

  • Colonoscopy can be delayed until age 30–35 (though may need to be earlier in some families) and repeated every 2–3 years and every 1–2 years after age 40.
  • Hysterectomy and bilateral salpingo-oophorectomy are to be considered after childbearing.

The following is recommended for PMS2 mutation carriers.

  • Colonoscopy can be delayed until age 35–40 (though may need to be earlier in some families) and repeated every 2–3 years and every 1–2 years after 50.

Lynch syndrome cancer risks and average ages of onset have been updated, and the table now includes separate statistics for MSH6 and PMS2 (NCCN, 2013a, LS-D).

APC testing criteria have been added (NCCN, 2013a, APC/MUTYH-1).

  • Personal history of > 10 adenomas
  • Personal history of desmoid tumor
  • Known deleterious APC mutation in family

MUTYH (MYH) testing criteria have been added (NCCN, 2013a, APC/MUTYH-1).

  • Personal history of > 10 adenomas
  • Individual meeting criteria for serrated polyposis syndrome, previously known as hyperplastic polyposis, with at least some adenomas
  • Known deleterious biallelic MUTYH mutations in family

Familial adenomatous polyposis, attenuated familial adenomatous polyposis, and MUTYH associated polyposis are described in detail, including surveillance, surgery, and chemoprevention.

A new page has been added describing management of patients with colonic adenomatous polyposis of unknown etiology (e.g., no mutation detected in APC or MUTYH)(NCCN, 2013a, CPUE-1.

NCCN guidelines are used frequently by healthcare providers to create medical management plans for their patients. Nurses should be familiar with the guidelines, including the detailed discussion with references in the text section. The guidelines are updated at least annually; they can be accessed on NCCN’s Web site or through free apps on your mobile device.

References
National Comprehensive Cancer Network. (2012). NCCN categories of evidence and consensus. Retrieved from http://www.nccn.org/professionals/physician_gls/categories_of_consensus.asp

National Comprehensive Cancer Network. (2013a). Colorectal cancer screening (version 2.2013). Retrieved from http://www.nccn.org/professionals/physician_gls/pdf/colorectal_screening.pdf

National Comprehensive Cancer Network. (2013b). Genetic/familial high-risk assessment: Breast and ovarian (version 3.2013). Retrieved from http://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf

 
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Special Interest Group Newsletter August 2013
 
   

Congratulations to CAG SIG Member for 2012 ONS Best SIG Newsletter Article Award

Cancer Genetics (CAG) SIG member and former CAG SIG Newsletter co-editor, Robin S. Stevens, ARNP-BC, MSN, OCN®, CBC, won the 2012 ONS Best SIG Newsletter Article Award for her article “Unusual Case Presentation: Pseudopapillary Pancreatic Tumor in a 13-year-old with a BRCA2 Mutation.” This article was originally published in the August 2012 CAG SIG Newsletter and then reprinted with permission in the May 2013 Surgical Oncology SIG Newsletter. Congratulations, Robin!

 
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Special Interest Group Newsletter  Month August 2013
 
   

Check It Out:
New Genetics Information Web Site

The Genetics in Primary Care Institute (GPCI) has launched a new Web site. GPCI is a cooperative agreement between the U.S. Department of Health and Human Services, Health Resources and Services Administration, Maternal and Child Health Bureau, and American Academy of Pediatrics.

The new Web site contains genetics and genomics tools and information for primary care providers. Resources, webinars, and live educational activities can be found on the “Provider Education” page.

 
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Special Interest Group Newsletter  August 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, Kirsten 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 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  August 2013
 
   

Journals Available in Digital Format

Did you know that the Clinical Journal of Oncology Nursing (CJON) and Oncology Nursing Forum (ONF) are 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  August 2013
 
   

We Would Love to Hear Your Voice

We would love to welcome new bloggers to write about any or all of a variety of topics including oncology nursing, patient care, treatment updates, networking and professional development, nursing education and careers, what’s it like as a new oncology nurse or student nurse, and information for patients and caregivers. Writing for the ONS blog is great experience and will distinguish you as an expert in your field. Get your feet wet in the publishing and digital world at the same time.

If you have an interest in writing for the ONS blog or you’d like to know more about taking on this volunteer role, please email socialmedia@ons.org for more information.

 
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Special Interest Group Newsletter  August 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.

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  August 2013
 
   

Five-Minute In-Service

In the latest issue of ONS Connect, the Five-Minute In-Service explains how Cultural Barriers Keep African Americans From Using Palliative Care.

 
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Special Interest Group Newsletter  August 2013
 
   

Ask a Team Member

In the latest issue of ONS Connect, the Ask a Team Member column answers the questionWhat Is the CYP3A Drug-Metabolizing Pathway and How Does it Affect Chemotherapy Levels?

 
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Special Interest Group Newsletter  August 2013
 
   

Spotlight on Symposia:
Access Supplemental Content Anywhere!

The Spotlight on Symposia, the annual ONS Connect supplement, is now available for free online. This valuable resource features summaries from 12 symposia presented at the Oncology Nursing Society’s 38th Annual Congress in April 2013. Contents cover hematologic malignancies, safety, site-specific cancers, and supportive care. The supplement is easier to access than ever on your tablet, smartphone, or other portable device. Available for free to ONS members and nonmembers alike, check out the Spotlight on Symposia today. Happy reading!

 
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Special Interest Group Newsletter  August 2013
 
   

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Special Interest Group Newsletter  August 2013
 
   

Cancer Genetics SIG Officers

Coordinator (2012-2014)
Jacqueline Hale, RN, APN-C, AOCN®, APNG
Flemington, NJ
Hale.jacqueline@hunterdonhealthcare.org

Coordinator-Elect (2013-2014)
Catherine Belt, RN, MSN, AOCN®
Hatfield, PA
cathy.belt@uphs.upenn.edu

Editor
Patricia Kelly, DNP, APRN, CNS, AOCN®
Dallas, TX
patriciakelly@texashealth.org

 

Web Administrator
Lisa Aiello-Laws, RN, MSN, APNG, AOCNS®
North Cape May, NJ
llaws@eviti.com

Special Projects
Julie Eggert, RN, PhD, GNP-C, AOCN®
Greer, SC
jaegger@exchange.clemson.edu

ONS Copy Editor
Jessica Moore, BA, BS
Pittsburgh, PA
jmoore@ons.org

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