Genetic Counseling in Cancer Care: What Is the Role of Oncology Nurses?
If you saw a patient who was under 50 and had breast, colon, or ovarian cancer, what course of action would you recommend?
If you saw a patient who was under 50 and had breast, colon, or ovarian cancer, what course of action would you recommend? What if the patient was a woman with more than 1 type of cancer, or a man with both colon and bladder cancers? If your response would be to refer those patients for genetic counseling, you would be doing the right thing, according to experts in that field.
Armed with new insights about germline mutations—which are inherited and present in every cell of the body—genetic counselors are not only able to identify familial cancers, including Lynch syndrome and Hereditary Breast-Ovarian Cancer syndrome, but they can also suggest appropriate interventions. Their ability to reach patients would be limited, though, without support from oncology nurses— often the first healthcare providers to gather and review detailed personal and family cancer histories.
That’s why experts are calling on oncology nurses to be knowledgeable about familial cancers, and to help ensure that they are diagnosed.
Rebecca Nagy, MS, CGC
“Genetics has become a standard of care in cancer patients,” said Rebecca Nagy, MS, CGC, a certified genetic counselor at the Ohio State University Comprehensive Cancer Center and president-elect of the National Society of Genetic Counselors (NSGC). “It used to be that this process would tell you if you were at risk but wouldn’t change treatment, but now we’re getting into an area where these changes in genes are tailoring what therapy we give to patients. It’s such an evolving field and staying up to speed will help oncology nurses and make them better at their jobs.”
A position statement by the Oncology Nursing Society (ONS) (www.goo.gl/eyZzA) echoes that idea. According to the statement, there is a growing need for “professional nurses trained in genetics and genomics and cancer care,” and those areas should be included in all nursing curricula. In fact, continuing education courses focused solely on genetics and genomics should be available, ONS said in the statement, which also emphasizes the importance of collaborative relationships between healthcare providers and “specialty organizations with a focus in genetics.”
What Exactly Is a Genetic Counselor?
Before assessing their own role in genetic counseling, it is first important for nurses to understand the function of the genetic counselor. A certified genetic counselor is a professional who has completed a 2-year master of science degree focused on the study of both genetics and counseling, and then earned certification from the American Board of Genetic Counseling (www.goo.gl/9ukjv). Genetic counselors who specialize in oncology evaluate family histories of cancer and determine whether patients or their relatives should be tested for gene mutations that can cause hereditary oncologic syndromes, and which tests they should have. After interpreting the results of those blood tests, the counselors help patients make decisions about prevention or management of their cancers, and also offer psychosocial support.
It used to be that this process would tell you if you were at risk but wouldn’t change treatment, but now we’re getting into an area where these changes in genes are tailoring what therapy we give to patients. ”
—Rebecca Nagy, MS, CGC
The information the counselors provide can make an enormous difference in quality of life and longevity for patients, including some with cancer and some being followed by oncologists because their family histories make cancer likely. Most commonly, genetic counselors who specialize in oncology investigate the possibility of hereditary breast, colon, ovarian and/or uterine cancers, Nagy said.
“The conditions we test for are called syndromes because the patients are at risk for a group of cancers, so we test them to see if they’re at risk for other cancers down the road,” Nagy said. “If we find they’re a carrier of a change in a gene, we test their family members before the cancer occurs and do things to lower their risk, like early screening. Some women or men will have surgery, or take medications, before the cancer develops, to lower their risk.”
Ellen T. Matloff, MS, CGC
Interventions Following Genetic Screening
When genetic screening yields a positive result for a mutation or syndrome, various intervention options are available (Table Below). Preventive surgical options can include mastectomy in women who carry a breast cancer mutation, removal of the thyroid gland in children likely to develop an aggressive form of thyroid cancer, or removal of the colon in people with a mutation that can cause colon cancer. Less invasive interventions can include dietary changes.
In patients who already have cancer, “It can be crucial to know whether the condition is caused by a [genetic] syndrome before deciding on a treatment,” added Ellen T. Matloff, MS, CGC, a certified genetic counselor and director of cancer genetic counseling at Yale Cancer Center.
“If a woman has breast cancer caused by a TP53 mutation and opts for radiation, she is actually at very high risk to develop a brand-new cancer in the field of her radiation,” Matloff said. “We’ve seen, too late, some women who were diagnosed with early-stage breast cancer, chose lumpectomy and radiation, and then developed bone cancer that killed them.”
Likewise, it’s helpful to know when a BRCA1 or BRCA2 mutation is driving a woman’s breast cancer, because tumors with mutations in those genes may be more sensitive to PARP inhibitors than to cytotoxic drugs, Nagy said.
The Role of Oncology Nurses in Genetic Counseling
So what is the role of oncology nurses in this process? Depending on their level of training, oncology nurses will have varying levels of involvement in genetic counseling. Many nurses play a facilitator role— recognizing an individual’s need for genetic evaluation and then making a referral to a counselor; however, according to ONS’s position statement on genetic counseling, some advanced practice nurses participate in the actual counseling: “Advanced practice nurses with specialized training in clinical cancer genetics and genomics and cancer predisposition testing may be involved in the clinical application of cancer genetics, including genetic counseling and education.”
In patients who already have cancer, it can be crucial to know whether the condition is caused by a [genetic] syndrome before deciding on a treatment. ”
—Ellen T. Matloff, MS, CGC
Diagnosing Hereditary Cancer
As previously discussed, genetic counseling in cancer care involves diagnosing and managing hereditary oncologic syndromes. The role of most nurses in this process is a matter of asking a patient about the history of cancer in his or her family, recognizing indicators that suggest the need for genetic counseling, and making a referral. It is an opportunity for nurses to fill a potential gap in care, Matloff said, since that information is “not typically covered in a 20-minute visit with an oncology physician.”
Table. Genetic Syndromes and Interventions
Breast, thyroid, uterine; other benign tumors of various organs
Increased screening for all cancer/tumor typesa
Familial Adenomatous Polyposis and MutYH-Associated Polyposis
Colon cancer and polyps; small intestinal cancer
Prophylactic removal of colon, increased screening for other cancers
Familial Paraganglioma Syndrome
SDHB, SDHC, SDHD
Paragangliomas of head, neck, and abdomen
Increased screening for paragangliomas
Hereditary Breast-Ovarian Cancer Syndrome
Breast and ovarian cancer; prostate cancer in males; some other cancers slightly elevated
Increased breast screening, chemoprevention, and/ or mastectomy; prophylactic removal of ovaries/ fallopian tubes
MLH1, MSH2, MSH6, PMS2
Colon and uterine cancer; other cancers such as stomach, ovarian, urinary tract
Increased colon cancer screening and chemoprevention; prophylactic removal of uterus/ ovaries; screening for other cancers
Juvenile Polyposis Syndrome
MADH4 (aka SMAD4), BMPR1A
Gastrointestinal cancers, benign colon polyps
Increased screening for colon and small intestinal cancers
Breast, brain, lung cancer, leukemia
Increased screening for breast cancer; consider research-based imaging for other cancers
Multiple Endocrine Neoplasia type 1
Pancreatic cancer (neuroendocrine); pituitary and parathyroid tumors
Increased screening for pancreatic and other tumors
Multiple Endocrine Neoplasia type 2
Medullary thyroid cancer; adrenal and parathyroid tumors
Prophylactic removal of thyroid; increased screening for other tumors
LKB1 (aka STK11)
Gastrointestinal, breast cancer
Increased screening for colon, small intestinal, and breast cancer
Von Hippel-Lindau Syndrome
Renal cell carcinoma, brain cancer (hemangioblastoma), other benign tumors
Increased screening for all cancers/tumors
aScreening refers to imaging (eg, CT scan, PET scan, MRI), endoscopy (eg, colonoscopy, upper endoscopy), and biochemical testing (eg, blood and urine testing), or a combination of all of these.
Screening recommendations for each syndrome are tailored to the type of cancer and the degree of risk.
According to Nagy and Matloff, specific redflag symptoms oncology nurses should look for include 2 or more close relatives with breast and/ or ovarian cancer, especially if 1 was aged <50 years at diagnosis; a woman with both breast and ovarian cancers; triple-negative breast cancer in a family; a family that includes a man diagnosed with breast cancer; Jewish ancestry combined with other potential indicators of Hereditary Breast-Ovarian Cancer syndrome; incidences of both uterine and colon cancers in a person or family; and any cancers that have occurred in every generation of a family.
Being truly familiar with the clues that point to a hereditary cancer should also mean that a nurse knows when not to refer a patient to a genetic counselor, Nagy said. After all, Matloff pointed out, the majority of people who develop cancer do not have hereditary forms of the disease.
“Among 100 women with breast cancer, 5 to 10 of them will have a hereditary form, and that’s what we’re looking for,” Nagy said. “That’s why it’s important that the person caring for a patient knows those red flags. Currently, genetic counseling and testing is most beneficial for those 5 to 10 high-risk patients, not all 100 women.”
While Matloff urges oncology nurses to seek a 4-generation family history from patients who show signs of having hereditary cancers, Nagy acknowledges that many nurses may not have time to investigate at that level.
“If you’re working in a busy oncology clinic and you need to know whether to refer,” Nagy said, “ask the patient if his first- or second-degree relatives had cancer, which of them had it, which type, and how old they were when they were diagnosed. First-degree relatives are parents, siblings or offspring, and second-degree relatives are aunts, uncles, nieces, nephews and grandparents, on both sides of the family.”
It is important to note as well that diagnosis of familial cancers can also affect reproductive decisions, said Jackie Hale, RN, APN, AOCN®, an advanced practice registered nurse and advanced oncology certified nurse who is credentialed in genetics and coordinates the Family Risk Assessment Program at Hunterdon Regional Cancer Center in Flemington, New Jersey.
“If we are suggesting that, for medical management, a woman could benefit from having her ovaries removed to reduce her risk, having that decision made in the context of whether or not her family is complete can be very important,” Hale said.
Jackie Hale, RN, APN, AOCN®
Building a Knowledge Base
“It is imperative that oncology nurses who are doing genetic testing have the background and the preparation for it,” Hale said. “I believe that it takes more than a cursory 1- to 2-hour continuing medical education program.”
While many medical practices have easy access to genetic testing kits—particularly tests for the BRCA1 and BRCA2 breast and ovarian cancer genes, and for mutations that cause hereditary colon cancer— overseeing the genetic counseling process without a solid education in that area can lead to inadequate screening or unnecessary surgeries, Nagy said.
It is imperative that oncology nurses who are doing genetic testing have the background and the preparation for it. ”
—Jackie Hale, RN, APN, AOCN®
“A lot of harm can come from not seeing a healthcare professional with adequate training,” said Nagy. “We see patients who have had no counseling whatsoever and think they have cancer because a genetic test came back positive, or they’ve had the wrong surgery or the wrong type of screening because of misinterpretation of [the implications of] test results. I worry about patients who have bad family histories but normal test results, and their doctors are falsely reassuring them that everything is fine. They don’t get in to see us, but they still might have some risk, or maybe another gene we could test for. It’s something we actually try to counter a bit by offering physicians and nurses in our community some education. If they have a question about a patient, they can just give us a call. Or, if they want more education, we’ll come and do grand rounds.”
Elspeth Knill-Selby, MSN, APRN, BC-FNP
Surgical Oncology Unit, Yale School of Medicine
Breast Center, Smilow Cancer Hospital
New Haven, Connecticut
With a growing understanding of genetics and genomics making it increasingly possible for genetic counselors to help diagnose, prevent, and treat hereditary cancers, experts in that field are calling for more participation from oncology nurses, who may have opportunities to refer patients in need.
To get a glimpse into an oncology nurse’s experience in that setting, OncLive Nursing spoke with Elspeth Knill-Selby, MSN, APRN, BC-FNP, a nurse practitioner who works in the surgical oncology unit at the Yale School of Medicine, and in the Breast Center at Smilow Cancer Hospital at Yale-New Haven.
OncLive Nursing: How are you typically involved in the genetic counseling process? Knill-Selby: Women come to us with a diagnosis of breast cancer, an abnormality on a physical exam or on imaging, or because they are high-risk due to a family history of breast cancer or ovarian cancer. Using criteria provided by Yale Cancer Center’s Cancer Genetic Counseling Program, my role has been to identify those individuals who would be appropriate for genetic counseling and refer them. We fax over a sheet to the Genetic Counseling Program that talks about personal versus family history of conditions like onset of breast cancer under age 45; onset of colon, uterine, pancreatic, gastric, or renal cancer under age 50; ovarian or fallopian tube cancer at any age; male breast cancer; medullary thyroid cancer; adrenocortical cancer at any age; and other criteria. If it’s something unusual, that often will trigger me to send them, even if it doesn’t necessarily fall within the guidelines.
Do you ever order a genetic test for a patient without the involvement of a genetic counselor?
My philosophy is, if I have questions about whether a patient needs to be evaluated with a genetic test, I’ll refer them to the genetics people here. It’s their area of expertise, and they have a greater knowledge base. In my practice, I’d never just order the test. It’s not something any of us here do.
Armed with information about their hereditary cancers, what kinds of treatment decisions have you seen your patients consider?
If a young woman in her 30s is diagnosed with breast cancer, or if she also has a strong family history, we will send her for the testing, and it will impact her surgical decision making. Not all patients with mutations elect to have mastectomies; some choose to be closely followed. We’ve had pregnant women with breast cancer and women who notice a lump just after they’ve had a baby, so they have to balance recommendations for treatments or preventive measures with their desire for further children. We also have women who decide to have an egg retrieval before chemo. It’s complicated, so I think these patients look to us as nurses, and to the physicians, as well, to help them navigate through the process and refer them to the appropriate people, so they can make informed decisions.
Besides grappling with decisions about medical management, what are some of the issues you’ve seen your patients encounter during the genetic counseling process?
It’s not such a straightforward process. Patients want to do everything to prevent developing a breast cancer, but it’s frightening. Some patients choose not to be tested, and I have one patient who got the testing and doesn’t want the results. If they do undergo testing, there are so many repercussions for patients, like whether they should tell their family members, and how that is going to affect those family members.
Are oncology nurses in every professional setting equally able to recognize a patient who may benefit from genetic counseling? Should they be?
It’s a generalization, but nurses in academic institutions like this one, who have all these genetics resources at their fingertips, are more likely than nurses in community or private practice to refer patients. You’re not going to know everything, but I think it’s a good idea for all oncology nurses to have a general sense of who should be referred and who should not, and some insight into what a genetic test will mean. It’s a good idea to have a sense of what the criteria are, because the physician may not have that right in the forefront of his or her mind. You’re always there to aid in that process.
Beyond Medical Support
It is important for oncology nurses to understand that beyond medical assessment, genetic counseling also involves protecting patients from some of the social and financial repercussions of carrying a hereditary cancer gene.
“Health insurance will most likely cover genetic testing, and while many patients worry about genetic discrimination by employers and health insurers, they are protected under the Genetic Insurance Nondiscrimination Act (GINA),” Matloff said. “However, that does not protect them from discrimination by life or disability insurance companies, so before testing we ask if they need any more life or disability insurance. If people are not counseled that way, they can lose those opportunities. They need to have a really clear understanding of the risks and benefits of genetic testing.”
Another issue nurses should be prepared to address is helping individuals overcome barriers to access. While nurses may recognize the value in referring patients to genetic counselors, connecting the patient with a genetics expert can be difficult.
“There are very few nurses who are certified in genetics, and there are a limited number of genetic counselors available, so there are portions of the country where people would have to travel to get genetic services,” Hale said.
In those cases, Matloff suggested, nurses can visit the NSGC’s website (www.nsgc.org) to find a genetic counselor in their area. In addition, she said, there are several websites—most affiliated with health insurance companies—that offer consultations with genetic counselors by phone. One example, she said, is a site offered by InformedDNA (www.informeddna.com).
Seeking that help is definitely worth the effort, Hale said. “In the 12 years I’ve been doing this, I have never met a family for whom the answer was simple because it was just another test result. The answer always impacts other people. It impacts their medical management, their emotional state and their anxiety, and I believe that to do the test outside the context of support and counseling creates a void in our delivery of care.”
Genetics Training for Oncology Nurses
For eligible registered nurses who want to gain expertise in the field, the Genetic Nursing Credentialing Commission (www.geneticnurse.org) offers both a Genetics Clinical Nurse (GCN) certification and an Advanced Practice Nurse in Genetics (APNG) certification.
Also available are a variety of continuing education courses, including a Cancer Genetics 101 online course offered by ONS (www.goo.gl/5Df6I); a course offered by Fox Chase Cancer Center, titled “Bridging Genomic Science and Practice: Cancer Risk Assessment, Treatment and Beyond (www.goo.gl/B5HkQ)”; an Intensive Course in Cancer Risk Assessment offered by City of Hope (www.goo.gl/tNjXs); and information and resources from the International Society of Nurses in Genetics (www.isong.org).
Beth Fand Incollingo is a New Jersey-based writer and editor, and owner of the communications firm Texterity, LLC.