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Oncology Essentials
Ellen R. Carr, RN, MSN, AOCN®—Associate Editor
Cancer Genetics and Genomics: Essentials for Oncology Nurses Jean Boucher, PhD, RN, ANP, ACNP, Karleen Habin, MSN, RN, and Meghan Underhill, PhD, RN, AOCNS®
Cancer genetics and genomics are rapidly evolving, with new discoveries emerging in genetic mutations, variants, genomic sequencing, risk-reduction methods, and targeted therapies. To educate patients and families, state-of-the-art care requires nurses to understand terminology, scientific and technological advances, and pharmacogenomics. Clinical application of cancer genetics and genomics involves working in interdisciplinary teams to properly identify patient risk through assessing family history, facilitating genetic testing and counseling services, applying risk-reduction methods, and administering and monitoring targeted therapies. Jean Boucher, PhD, RN, ANP, ACNP, is an assistant professor in the Graduate School of Nursing at the University of Massachusetts Medical School in Worcester; Karleen Habin, MSN, RN, is a nurse administrator in oncology clinical research at the Massachusetts General Hospital in Boston and the president and cofounder of Cancer Resource Foundation Inc. in Marlborough, MA; and Meghan Underhill, PhD, RN, AOCNS®, is an instructor in the Phyllis F. Cantor Center for Research in Nursing and Patient Care Services at Dana-Farber Cancer Institute in Boston. The authors take full responsibility for the content of the article. The authors did not receive honoraria for this work. No financial relationships relevant to the content of this article have been disclosed by the authors or editorial staff. Boucher can be reached at [email protected], with copy to editor at [email protected]. Key words: genetics; genomics; biology of cancer; biotherapy; targeted therapy; staff development; staff education Digital Object Identifier: 10.1188/14.CJON.355-359
O
ncology nurses need to understand the essentials of genetics and genomics as a foundation for clinical practice. Science and technology continue to advance in genetic molecular markers, risk-reduction methods, and targeted therapies for cancer (Calzone, Jenkins, Bakos, et al., 2013; Oncology Nursing Society [ONS], 2012; Santos et al., 2013). In the fast-paced environment of oncology nursing, core competencies include risk assessment, facilitating access to genetic counseling or testing services, and knowledge about new cancer therapies and preventive care (Calzone et al., 2010; Calzone, Jenkins, Nicol, et al., 2013). Genomics also requires that oncology nurses provide tailored treatments to patients (Calzone, Jenkins, Bakos, et al., 2013). Greco, Tinley, and Seibert (2012) and the American Nurses Association (2009) provide resources for oncology nurses to learn the essentials of genetic and genomic nursing. The National
Institutes of Health’s Genetics Home Reference (2014) and National Human Genome Research Institute (2012) also provide resources regarding terminology, training, education, and risk reduction. Those resources provide a foundation on (a) emerging basic science about genetic mutations and markers, as well as principles of application to therapies; (b) knowledge and skills about genetic risk assessment tools and prevention (e.g., family history, clinical algorithms); (c) information and technology; (d) follow-up preventive care needs; and (e) ethical, legal, and social implications.
Preparation for Nurses Clinical oncology nursing includes an understanding of cancer genetics (i.e., single gene disorders) and cancer genomics (i.e., identification of multiple genes, DNA sequences, and proteins, as well
Clinical Journal of Oncology Nursing • Volume 18, Number 3 • Oncology Essentials
as their interaction with one another) (ONS, 2012). Competency-based training for advanced practice nurses involves comprehensive risk assessment, facilitation of genetic testing and counseling, and follow-up patient care (ONS, 2012). Clinical cancer care now includes epigenomics (i.e., epigenetic modifications of genetic material) related to inherited forms of cancer, as well as epigenomic testing, preventive care, and treatment responses (Calzone, Jenkins, Nicol, et al., 2013; ONS, 2012). Nurses also should be aware of early detection and preventive care of inherited cancers (e.g., breast, ovarian, colorectal, kidney, pancreatic, prostate, leukemia) (Robson, Storm, Weitzel, Wollins, & Offit, 2010) (see Table 1). Knowledge of pharmacogenomics and targeted therapies also are standard. Pharmacogenomics (i.e., drug therapies for identified mutations) are based on an understanding of whole-genome sequencing, leading to targeting receptors (e.g., BRAF, KRAS, MTOR, tyrosine kinase inhibitors). Targeted therapies include monoclonal antibodies or small molecular agents that penetrate the cell membrane with protein inhibitory properties (Genetics Home Reference, 2014). Nurses should be familiar with testing methods used to identify candidate genes and single nucleotide polymorphisms, which may lead to future genetic biomarkers (Conley et al., 2013). In addition, knowledge of genetics and molecular biology (e.g., DNA structure and function, carcinogen effects on DNA and cell function, genetic mutations, genetic variants, polymorphism practices) is essential because they can affect risk-reduction strategies and underscore healthy lifestyles (ONS, 2012). Molecularly targeted therapies that are based on cancer mutations, DNA sequencing technologies (e.g., genetic variants, whole-genome sequencing, exome sequencing), and genomic data 355
sharing through genome-wide association studies also should be noted (Genetics Home Reference, 2014). As part of pharmacogenomics application for targeted therapies, understanding genetic variability in genes encoding drug-metabolizing enzymes, drug-transporting proteins, and drug receptors is essential. Clinical care of patients treated with genomic-based
agents should include providing patients and their families with education about administration, toxicities, and symptom management. Integrating genetics and genomics into clinical oncology practice depends on the practice focus, which could include risk prevention, risk reduction, or personalized targeted therapies. Professional
educational resources can be found in Figure 1.
Risk Assessment and Referrals Clinical oncology nurses care for patients who need genetic testing and
TABLE 1. Inherited Cancers, Genetic Mutations, and Molecular Targeted Therapies Type of Inherited Cancer
Mutation
Type of Cancer
Interventions
Cowden syndrome
PTEN
Breast cancer, gastrointestinal malignancies, endometrial cancer
Surveillance
Driver mutations
AKT1, ALK, BRAF, EGFR, HER2, KRAS, MEK1, MET, NRAS, PIK3CA, RET, and ROS1
Lung cancer
Drug therapies (e.g., erlotinib, everolimus, crizotinib)
Familial adenomatous polyposis; attenuated familial adenomatous polyposis
APC, MUTYH
Colorectal and gastrointestinal cancers
Surveillance; surgical options for prophylaxis treatment; chemoprevention
Hereditary breast and ovarian cancer
BRCA1, BRCA2
Breast and ovarian cancersa
Surveillance; surgical options for prophylaxis treatment; chemoprevention
Hereditary diffuse gastric cancer
CDH1
Gastric cancer
Surveillance; surgical options for prophylaxis treatment
Hereditary prostate cancer
HPC1
Prostate cancer
Surveillance; chemoprevention
Inherited genetic syndromes
BRCA2, HNPCC, p16, CDKN2A, PRSS, STK1, VHL
Pancreatic cancer
Surveillance; chemoprevention
Leukemia
CRLF2, JAK2, CRLF2, Philadelphia chromosome
Acute lymphoblastic leukemia, chronic myeloid leukemia
Treatment
Li-Fraumeni syndrome
CHEK2, TP53
Breast cancer, osteosarcomas, soft tissue sarcomas
Surveillance
Lynch syndrome
MLH1, MSH2, MLH3, MSH6, TGBR2, PMS1, PMS2
Colorectal cancer
Surveillance; surgical options for prophylaxis treatment; chemoprevention
Melanoma
CDKN2A, p16, CDK4, AKT1, ALK, BRAF, EGFR, HER2, KRAS, MEK1, MET, NRAS, PIK3CA, RET, ROS1
Skin cancer
Educate about sun safety and warning signs of melanoma; annual and selfexamination; surveillance; chemoprevention
Molecular targets
HER2 CTLA-4, BRAF BCR-ABL1 CD20 KIT, PDGFRA MTOR VEGF ligand RAF PDGFRb, RET, VEGFR2
Breast cancer Melanoma Chronic myeloid leukemia Non-Hodgkin lymphoma Gastric intestinal stromal tumors Renal cancer, pancreatic neuroendocrine Breast, lung, and colorectal cancers Renal cancers Hepatocellular and renal cancers
Drug therapies that target specific genes
Multiple endocrine neoplasia
MEN1, MEN2
Thyroid, pancreatic, and pituitary cancers
Surveillance
Peutz-Jeghers syndrome
STK11 on chromosome 19p13.3
Breast, gastrointestinal, and gynecologic cancers; other malignancies
Surveillance
Von Hippel-Lindau syndrome
VHL
Renal cancer
Surveillance
Men with BRCA1 or BRCA2 gene changes may also have an increased prostate cancer risk. Note. Based on information from National Cancer Institute, 2014a, 2014b; My Cancer Genome, 2014. a
356
June 2014 • Volume 18, Number 3 • Clinical Journal of Oncology Nursing
counseling, as well as access to care for risk reduction. Identification of at-risk patients requires assessment using risk assessment tools and evaluating family history, with a minimum of a threegeneration pedigree and including familial cancers (Valdez, Yoon, Qureshi, Green, & Khoury, 2010). Assessment also addresses environmental exposures (e.g., ionized radiation) and lifestyle factors (e.g., smoking, alcohol, diet) (National Coalition for Health Professional Education in Genetics [NCHPEG], 2007). From the family history assessment, oncology nurses should identify the red flags of cancer risk (i.e., when cancer is diagnosed before age 50 years, affects multiple family members, absence of known risk factors, and consanguinity of family members) (NCHPEG, 2007). Guidelines for cancer risk assessment can be found from the American College of Obstetrics and Gynecology (Lancaster et al., 2007), American Gastroenterological Association (2001), National Comprehensive Cancer Network ([NCCN], 2013), American College of Obstetricians and Gynecologists Committee on Gynecologic Practice (2011), and U.S. Preventive Services Task Force (2013). Certified genetic counselors provide patient counseling and genetic testing (Accreditation Council for Genetic Counseling, 2013; Riley et al., 2012). The National Society of Genetics Counselors provides information about finding a genetic counselor, genetic testing overview, considerations, and resources for further patient and provider assistance (Riley et al., 2012). Social workers or financial counselors also can help patients gain access to genetic counseling and testing when issues arise, such as limited access, limited knowledge of services, or limited community resources. Uninsured and underinsured patients may be eligible for genetic testing financial assistance from local foundation support, institutional resources, public health programs, and nonprofit organizations (Cancer Resource Foundation, 2014).
Implications for Nursing Many organizations advocate for genetics-related information and technology as a component of best practices in oncology care. Some of those organizations include the American Society of
Clinical Oncology (Robson et al., 2010), Centers for Disease Control and Prevention (2011), U.S. Preventive Task Force (2005), and the World Health Organization (2014). Oncology nurses have a role in patient and family education, communication, decision support, and psychosocial support (Calzone, Jenkins, Nicol, et al., 2013; White, Bonham, Jenkins, Stevens, & McBride, 2008). Oncology nurses are part of a multidisciplinary team that includes physicians, genetic counselors, and social workers. As part of that team, nurses are responsible for educating and communicating cancer risk, follow-up for genetic testing and counseling, and facilitating preventive services in collaboration with primary care providers in community settings (Calzone, Jenkins, Nicol, et al., 2013). In addition, management of patients’ genetic information involves knowledge of informed consent, use of bioinformatics to analyze data, and health information technology to advance early detection of risk and individualized care (Institute of Medicine, 2008; Khoury et al., 2007; U.S. Department of Health and Human Services, 2008). Nurses are involved with ethical, legal, and social implications related to bioethical issues of testing, patient fear of discrimination, and protection of patient information, including privacy and security concerns, as well as the effect on insurance coverage. To maintain privacy of genetic testing and mutation risk information, health policies include the Genetic Information Nondiscrimination Act, Affordable Care Act, and Americans With Disabilities Act (ADA) (National Human Genome Research Institute, 2012; Steck & Eggert, 2011). In well-developed and insured populations, access to genetic testing, personalized medicine, and preventive treatment services is common. However, patients who lack access to as many resources also need genetic testing. Barriers to resources include inadequate financial coverage for genetic testing, the psychological impact on patients and families, and limits to preventive care for underprivileged populations within many U.S. and global communities (Brandt, Ali, Sabel, McHugh, & Gilman, 2008; Habin et al., 2010; World Health Organization, 2014). Cultural considerations include stigma, fear, and mistrust surrounding genetic
Clinical Journal of Oncology Nursing • Volume 18, Number 3 • Oncology Essentials
Cancer Resource Foundation Information on genetic testing programs http://bit.ly/1fuIEkn City of Hope Provides an intensive course in cancer risk assessment http://bit.ly/Pxcpdi Genetics Home Reference Your guide to understanding genetic conditions www.ghr.nlm.nih.gov Genetic Science Learning Center Online educational materials from the University of Utah http://learn.genetics.utah.edu Genome TV National Human Genome Research Intitute www.genome.gov/GenomeTVLive Global Genetics and Genomics Community Interactive self-guided learning through case studies www.g-3-c.org International Society of Nursing Genetics Connects nurses with a webinar series about genetics www.isong.org/isong_webinars.php My Cancer Genome Information on cancer mutations www.mycancergenome.org National Cancer Institute A fact sheet for genetic testing for hereditary cancer syndromes http://1.usa.gov/1k9Hv5U National Coalition for Health Professional Education in Genetics Educational programs for health professionals in genetics www.nchpeg.org
FIGURE 1. Professional Educational Resources
testing and care (Brandt et al., 2008; Schlich-Bakker, ten Kroode, WárlámRodenhuis, van den Bout, & Ausems, 2007). Domestic and international efforts focus on ethical implications of genetic testing that involve racial discrimination, preservation of human rights, informed consent, and cultural self-determination (MacIntosh, 2005). Healthcare providers, including nurses, will need ongoing education about genetics-based clinical care to combat cultural considerations (Institute of Medicine, 2008; World Health Organization, 2014). 357
Conclusion Many resources support genomic and genetic oncology nursing competencies in practice, education, and research. Among those competencies are risk identification, initiating referrals to genetic counselors, and providing safe, informed treatment and follow-up care. Calzone, Jenkins, Bakos, et al. (2013) provided a framework for research to inform nursing practice and improve health outcomes. Nurses who are prepared in genetics and genomics essentials will provide high-quality, state-of-the-art clinical patient care.
References Accreditation Council for Genetic Counseling. (2013). Practice-based competencies for genetic counselors. Retrieved from http://bit.ly/1tKjSpz American College of Obstetricians and Gynecologists Committee on Gynecologic Practice. (2011). Committee opinion no. 477: The role of the obstetriciangynecologist in the early detection of epithelial ovarian cancer. Obstetrics and Gynecology, 117, 742–746. American Gastroenterological Association. (2001). American Gastroenterological Association medical position statement: Hereditary colorectal cancer and genetic testing. Gastroenterology, 121, 195–197. American Nurses Association. (2009). Essentials of genetic and genomic nursing: Competencies, curricula guidelines, and outcome indicators (2nd ed.). Retrieved from http://www.nursing world.org/MainMenuCategories/Ethics Standards/Genetics-1/EssentialNursing CompetenciesandCurriculaGuidelines forGeneticsandGenomics.pdf Brandt, R., Ali, Z., Sabel, A., McHugh, T., & Gilman, P. (2008). Cancer genetics evaluation: Barriers to and improvements for referral. Genetic Testing, 12, 9–12. Calzone, K.A., Cashion, A., Feetham, S., Jenkins, J., Prows, C.A., Williams, J.K., & Wung S.F. (2010). Nurses transforming health care using genetics and genomics. Nursing Outlook, 58, 26–35. Calzone, K.A., Jenkins, J., Bakos, A.D., Cashion, A.K., Donaldson, N., Feero, W., . . . Webb, J.A. (2013). A blueprint for genomic nursing science. Journal of Nursing Scholarship, 45, 96–104. doi:10.1111/ jnu.12007 Calzone, K.A., Jenkins, J., Nicol, N., Skirton, 358
H., Feero, W.G., & Green, E.D. (2013). Relevance of genomics to healthcare and nursing practice. Journal of Nursing Scholarship, 45, 1–2. Cancer Resource Foundation. (2014). Genetic testing programs. Retrieved from http://bit.ly/1fuIEkn Centers for Disease Control and Prevention. (2011). National Comprehensive Cancer Control Program. Retrieved from http:// www.cdc.gov/cancer/ncccp Conley, Y.P., Biesecker, L.G., Gonsalves, S., Merkle, C.J., Kirk, M., & Aouizerat, B.E. (2013). Current and emerging technology approaches in genomics. Journal of Nursing Scholarship, 45, 5–14. doi:10.1111/jnu.12001 Genetics Home Reference. (2014). Your guide to understanding genetic conditions. Retrieved from http://ghr.nlm .nih.gov Greco, K.E., Tinley, S., & Seibert, D. (2012). Essential genetic and genomic competencies for nurses with graduate degrees. Retrieved from http://nursing world.org/MainMenuCategories/Ethics Standards/Genetics-1/Essential-Genetic -and-Genomic-Competencies-for-Nurses -With-Graduate-Degrees.pdf Habin, K.R., Shannon, K., Ryan, P.D., Lundquist, D., Banister, G.E., Bauer-Wu, S., . . . Schapira, L. (2010). Abstract P1-10-01: Genetic Information for Treatment, Surveillance and Support [GIFTSS]: Initial evaluation of a program for the underserved. Cancer Research, 70(Suppl. 2), P1-10-01. doi:10.1158/0008-5472.SABCS10-P1-10-01 Khoury, M.J., Gwinn, M., Yoon, P.W., Dowling, N., Moore, C.A., & Bradley, L. (2007). The continuum of translation research in genomic medicine: How can we accelerate the appropriate integration of human genome discoveries into health care and disease prevention? Genetics in Medicine, 9, 665–674 Institute of Medicine. (2008). Diffusion and use of genomic innovations in health and medicine: Workshop summary. Washington, DC: National Academies Press. Lancaster, J.M., Powell, C.B., Kauff, N.D., Cass, I., Chen, L.M., Lu, K.H., . . . Herzog, T.J. (2007). Society of Gynecologic Oncologists Education Committee statement on risk assessment for inherited gynecologic cancer predispositions. Gynecologic Oncology, 107, 159–162. MacIntosh, C. (2005). Indigenous selfdetermination and research on human genetic material: A consideration of the relevance of debates on patents
and informed consent, and the political demands on researchers. Health Law Journal, 13, 213–251. My Cancer Genome. (2014). Find a cancer mutation. Retrieved from http://www.my cancergenome.org National Cancer Institute. (2014a). Cancer genetics risk assessment and counseling. Retrieved from http://www.cancer.gov/ cancertopics/pdq/genetics/risk-assess ment-and- counseling/HealthProfess ional/page1/AllPages National Cancer Institute. (2014b). Genetic testing for hereditary cancer syndromes. Retrieved from http://www.cancer.gov/ cancertopics/factsheet/Risk/genetic -testing National Coalition for Health Professional Education in Genetics. (2007). Core competencies in genetics essential for all health-care professionals. Retrieved from http://bit.ly/1mLsMSg National Comprehensive Cancer Network. (2013). NCCN practice guidelines in oncology: Genetic/familial highrisk assessment: Breast and ovarian [v.4.2013]. Retrieved from http://www .nccn.org/professionals/physician_gls/ PDF/genetics_screening.pdf National Human Genome Research Institute. (2012). Genetic Information Nondiscrimination Act of 2008. Retrieved from http://www.genome.gov/24519851 Oncology Nursing Society. (2012). Oncology nursing: The application of cancer genetics and genomics throughout the oncology care continuum. Retrieved from http://bit.ly/1kBZHCP Riley, B.D., Culver, J.O., Skrzynia, C., Senter, L.A., Peters, J.A., Costalas, J.W., . . . Trepanier, A.M. (2012). Essential elements of genetic cancer risk assessment, counseling, and testing: Updated recommendations of the National Society of Genetic Counselors. Journal of Genetic Counseling, 21, 151–161. doi:10.1007/ s10897-011-9462-x Robson, M.E., Storm, C.D., Weitzel, J., Wollins, D.S., & Offit, K. (2010). American Society of Clinical Oncology policy statement update: Genetic and genomic testing for cancer susceptibility. Journal of Clinical Oncology, 28, 893–901. doi:10.1200/JCO.2009.27.0660 Santos, E.M., Edwards, Q.T., Floria-Santos, M., Rogatto, S.R., Achatz, M.I., & MacDonald, D.J. (2013). Integration of genomics in cancer care. Journal of Nursing Scholarship, 45, 43–51. doi:10.1111/j.1547-5069 .2012.01465.x Schlich-Bakker, K.J., ten Kroode, H.F.,
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Wárlám-Rodenhuis, C.C., van den Bout, J., & Ausems, M.G. (2007). Barr iers to par ticipating in genetic counseling and BRCA testing during primary treatment for breast cancer. Genetics in Medicine, 9, 766–777. doi:10.1097/ GIM.0b013e318159a318 Steck, M.B., & Eggert, J.A. (2011). The need to be aware and beware of the genetic information nondiscrimination act [Online exclusive]. Clinical Journal of Oncology Nursing, 15, E34–E41. doi:10.1188/ 11.CJON.E34-E41 U.S. Department of Health and Human Services. (2008). Personalized health care: Pioneers, partnerships, progress. Retrieved from http://bit.ly/1oj2k01 U.S. Preventive Services Task Force. (2013). Risk assessment, genetic counseling, and
genetic testing for BRCA-related cancer in women. Retrieved from http://bit.ly/ 1kDweeC Valdez, R., Yoon, P.W., Qureshi, N., Green, R.F., & Khoury M.J. (2010). Family history in public health practice: A genomic tool for disease prevention and health promotion. Annual Review of Public Health, 31, 69–87.
White, D.B. Bonham, V.L., Jenkins, J., Stevens, N., & McBride, C.M. (2008). Too many referrals of low-risk women for BRCA1/2 genetic services by family physicians. Cancer Epidemiology, Biomarkers and Prevention, 17, 2980–2986. World Health Organization. (2014). Human genetics programme. Retrieved from http://www.who.int/genomics/en
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Oncology Essentials
Ellen R. Carr, RN, MSN, AOCN®—Associate Editor
Cancer Genetics and Genomics: Essentials for Oncology Nurses Jean Boucher, PhD, RN, ANP, ACNP, Karleen Habin, MSN, RN, and Meghan Underhill, PhD, RN, AOCNS®
Cancer genetics and genomics are rapidly evolving, with new discoveries emerging in genetic mutations, variants, genomic sequencing, risk-reduction methods, and targeted therapies. To educate patients and families, state-of-the-art care requires nurses to understand terminology, scientific and technological advances, and pharmacogenomics. Clinical application of cancer genetics and genomics involves working in interdisciplinary teams to properly identify patient risk through assessing family history, facilitating genetic testing and counseling services, applying risk-reduction methods, and administering and monitoring targeted therapies. Jean Boucher, PhD, RN, ANP, ACNP, is an assistant professor in the Graduate School of Nursing at the University of Massachusetts Medical School in Worcester; Karleen Habin, MSN, RN, is a nurse administrator in oncology clinical research at the Massachusetts General Hospital in Boston and the president and cofounder of Cancer Resource Foundation Inc. in Marlborough, MA; and Meghan Underhill, PhD, RN, AOCNS®, is an instructor in the Phyllis F. Cantor Center for Research in Nursing and Patient Care Services at Dana-Farber Cancer Institute in Boston. The authors take full responsibility for the content of the article. The authors did not receive honoraria for this work. No financial relationships relevant to the content of this article have been disclosed by the authors or editorial staff. Boucher can be reached at [email protected], with copy to editor at [email protected]. Key words: genetics; genomics; biology of cancer; biotherapy; targeted therapy; staff development; staff education Digital Object Identifier: 10.1188/14.CJON.355-359
O
ncology nurses need to understand the essentials of genetics and genomics as a foundation for clinical practice. Science and technology continue to advance in genetic molecular markers, risk-reduction methods, and targeted therapies for cancer (Calzone, Jenkins, Bakos, et al., 2013; Oncology Nursing Society [ONS], 2012; Santos et al., 2013). In the fast-paced environment of oncology nursing, core competencies include risk assessment, facilitating access to genetic counseling or testing services, and knowledge about new cancer therapies and preventive care (Calzone et al., 2010; Calzone, Jenkins, Nicol, et al., 2013). Genomics also requires that oncology nurses provide tailored treatments to patients (Calzone, Jenkins, Bakos, et al., 2013). Greco, Tinley, and Seibert (2012) and the American Nurses Association (2009) provide resources for oncology nurses to learn the essentials of genetic and genomic nursing. The National
Institutes of Health’s Genetics Home Reference (2014) and National Human Genome Research Institute (2012) also provide resources regarding terminology, training, education, and risk reduction. Those resources provide a foundation on (a) emerging basic science about genetic mutations and markers, as well as principles of application to therapies; (b) knowledge and skills about genetic risk assessment tools and prevention (e.g., family history, clinical algorithms); (c) information and technology; (d) follow-up preventive care needs; and (e) ethical, legal, and social implications.
Preparation for Nurses Clinical oncology nursing includes an understanding of cancer genetics (i.e., single gene disorders) and cancer genomics (i.e., identification of multiple genes, DNA sequences, and proteins, as well
Clinical Journal of Oncology Nursing • Volume 18, Number 3 • Oncology Essentials
as their interaction with one another) (ONS, 2012). Competency-based training for advanced practice nurses involves comprehensive risk assessment, facilitation of genetic testing and counseling, and follow-up patient care (ONS, 2012). Clinical cancer care now includes epigenomics (i.e., epigenetic modifications of genetic material) related to inherited forms of cancer, as well as epigenomic testing, preventive care, and treatment responses (Calzone, Jenkins, Nicol, et al., 2013; ONS, 2012). Nurses also should be aware of early detection and preventive care of inherited cancers (e.g., breast, ovarian, colorectal, kidney, pancreatic, prostate, leukemia) (Robson, Storm, Weitzel, Wollins, & Offit, 2010) (see Table 1). Knowledge of pharmacogenomics and targeted therapies also are standard. Pharmacogenomics (i.e., drug therapies for identified mutations) are based on an understanding of whole-genome sequencing, leading to targeting receptors (e.g., BRAF, KRAS, MTOR, tyrosine kinase inhibitors). Targeted therapies include monoclonal antibodies or small molecular agents that penetrate the cell membrane with protein inhibitory properties (Genetics Home Reference, 2014). Nurses should be familiar with testing methods used to identify candidate genes and single nucleotide polymorphisms, which may lead to future genetic biomarkers (Conley et al., 2013). In addition, knowledge of genetics and molecular biology (e.g., DNA structure and function, carcinogen effects on DNA and cell function, genetic mutations, genetic variants, polymorphism practices) is essential because they can affect risk-reduction strategies and underscore healthy lifestyles (ONS, 2012). Molecularly targeted therapies that are based on cancer mutations, DNA sequencing technologies (e.g., genetic variants, whole-genome sequencing, exome sequencing), and genomic data 355
sharing through genome-wide association studies also should be noted (Genetics Home Reference, 2014). As part of pharmacogenomics application for targeted therapies, understanding genetic variability in genes encoding drug-metabolizing enzymes, drug-transporting proteins, and drug receptors is essential. Clinical care of patients treated with genomic-based
agents should include providing patients and their families with education about administration, toxicities, and symptom management. Integrating genetics and genomics into clinical oncology practice depends on the practice focus, which could include risk prevention, risk reduction, or personalized targeted therapies. Professional
educational resources can be found in Figure 1.
Risk Assessment and Referrals Clinical oncology nurses care for patients who need genetic testing and
TABLE 1. Inherited Cancers, Genetic Mutations, and Molecular Targeted Therapies Type of Inherited Cancer
Mutation
Type of Cancer
Interventions
Cowden syndrome
PTEN
Breast cancer, gastrointestinal malignancies, endometrial cancer
Surveillance
Driver mutations
AKT1, ALK, BRAF, EGFR, HER2, KRAS, MEK1, MET, NRAS, PIK3CA, RET, and ROS1
Lung cancer
Drug therapies (e.g., erlotinib, everolimus, crizotinib)
Familial adenomatous polyposis; attenuated familial adenomatous polyposis
APC, MUTYH
Colorectal and gastrointestinal cancers
Surveillance; surgical options for prophylaxis treatment; chemoprevention
Hereditary breast and ovarian cancer
BRCA1, BRCA2
Breast and ovarian cancersa
Surveillance; surgical options for prophylaxis treatment; chemoprevention
Hereditary diffuse gastric cancer
CDH1
Gastric cancer
Surveillance; surgical options for prophylaxis treatment
Hereditary prostate cancer
HPC1
Prostate cancer
Surveillance; chemoprevention
Inherited genetic syndromes
BRCA2, HNPCC, p16, CDKN2A, PRSS, STK1, VHL
Pancreatic cancer
Surveillance; chemoprevention
Leukemia
CRLF2, JAK2, CRLF2, Philadelphia chromosome
Acute lymphoblastic leukemia, chronic myeloid leukemia
Treatment
Li-Fraumeni syndrome
CHEK2, TP53
Breast cancer, osteosarcomas, soft tissue sarcomas
Surveillance
Lynch syndrome
MLH1, MSH2, MLH3, MSH6, TGBR2, PMS1, PMS2
Colorectal cancer
Surveillance; surgical options for prophylaxis treatment; chemoprevention
Melanoma
CDKN2A, p16, CDK4, AKT1, ALK, BRAF, EGFR, HER2, KRAS, MEK1, MET, NRAS, PIK3CA, RET, ROS1
Skin cancer
Educate about sun safety and warning signs of melanoma; annual and selfexamination; surveillance; chemoprevention
Molecular targets
HER2 CTLA-4, BRAF BCR-ABL1 CD20 KIT, PDGFRA MTOR VEGF ligand RAF PDGFRb, RET, VEGFR2
Breast cancer Melanoma Chronic myeloid leukemia Non-Hodgkin lymphoma Gastric intestinal stromal tumors Renal cancer, pancreatic neuroendocrine Breast, lung, and colorectal cancers Renal cancers Hepatocellular and renal cancers
Drug therapies that target specific genes
Multiple endocrine neoplasia
MEN1, MEN2
Thyroid, pancreatic, and pituitary cancers
Surveillance
Peutz-Jeghers syndrome
STK11 on chromosome 19p13.3
Breast, gastrointestinal, and gynecologic cancers; other malignancies
Surveillance
Von Hippel-Lindau syndrome
VHL
Renal cancer
Surveillance
Men with BRCA1 or BRCA2 gene changes may also have an increased prostate cancer risk. Note. Based on information from National Cancer Institute, 2014a, 2014b; My Cancer Genome, 2014. a
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counseling, as well as access to care for risk reduction. Identification of at-risk patients requires assessment using risk assessment tools and evaluating family history, with a minimum of a threegeneration pedigree and including familial cancers (Valdez, Yoon, Qureshi, Green, & Khoury, 2010). Assessment also addresses environmental exposures (e.g., ionized radiation) and lifestyle factors (e.g., smoking, alcohol, diet) (National Coalition for Health Professional Education in Genetics [NCHPEG], 2007). From the family history assessment, oncology nurses should identify the red flags of cancer risk (i.e., when cancer is diagnosed before age 50 years, affects multiple family members, absence of known risk factors, and consanguinity of family members) (NCHPEG, 2007). Guidelines for cancer risk assessment can be found from the American College of Obstetrics and Gynecology (Lancaster et al., 2007), American Gastroenterological Association (2001), National Comprehensive Cancer Network ([NCCN], 2013), American College of Obstetricians and Gynecologists Committee on Gynecologic Practice (2011), and U.S. Preventive Services Task Force (2013). Certified genetic counselors provide patient counseling and genetic testing (Accreditation Council for Genetic Counseling, 2013; Riley et al., 2012). The National Society of Genetics Counselors provides information about finding a genetic counselor, genetic testing overview, considerations, and resources for further patient and provider assistance (Riley et al., 2012). Social workers or financial counselors also can help patients gain access to genetic counseling and testing when issues arise, such as limited access, limited knowledge of services, or limited community resources. Uninsured and underinsured patients may be eligible for genetic testing financial assistance from local foundation support, institutional resources, public health programs, and nonprofit organizations (Cancer Resource Foundation, 2014).
Implications for Nursing Many organizations advocate for genetics-related information and technology as a component of best practices in oncology care. Some of those organizations include the American Society of
Clinical Oncology (Robson et al., 2010), Centers for Disease Control and Prevention (2011), U.S. Preventive Task Force (2005), and the World Health Organization (2014). Oncology nurses have a role in patient and family education, communication, decision support, and psychosocial support (Calzone, Jenkins, Nicol, et al., 2013; White, Bonham, Jenkins, Stevens, & McBride, 2008). Oncology nurses are part of a multidisciplinary team that includes physicians, genetic counselors, and social workers. As part of that team, nurses are responsible for educating and communicating cancer risk, follow-up for genetic testing and counseling, and facilitating preventive services in collaboration with primary care providers in community settings (Calzone, Jenkins, Nicol, et al., 2013). In addition, management of patients’ genetic information involves knowledge of informed consent, use of bioinformatics to analyze data, and health information technology to advance early detection of risk and individualized care (Institute of Medicine, 2008; Khoury et al., 2007; U.S. Department of Health and Human Services, 2008). Nurses are involved with ethical, legal, and social implications related to bioethical issues of testing, patient fear of discrimination, and protection of patient information, including privacy and security concerns, as well as the effect on insurance coverage. To maintain privacy of genetic testing and mutation risk information, health policies include the Genetic Information Nondiscrimination Act, Affordable Care Act, and Americans With Disabilities Act (ADA) (National Human Genome Research Institute, 2012; Steck & Eggert, 2011). In well-developed and insured populations, access to genetic testing, personalized medicine, and preventive treatment services is common. However, patients who lack access to as many resources also need genetic testing. Barriers to resources include inadequate financial coverage for genetic testing, the psychological impact on patients and families, and limits to preventive care for underprivileged populations within many U.S. and global communities (Brandt, Ali, Sabel, McHugh, & Gilman, 2008; Habin et al., 2010; World Health Organization, 2014). Cultural considerations include stigma, fear, and mistrust surrounding genetic
Clinical Journal of Oncology Nursing • Volume 18, Number 3 • Oncology Essentials
Cancer Resource Foundation Information on genetic testing programs http://bit.ly/1fuIEkn City of Hope Provides an intensive course in cancer risk assessment http://bit.ly/Pxcpdi Genetics Home Reference Your guide to understanding genetic conditions www.ghr.nlm.nih.gov Genetic Science Learning Center Online educational materials from the University of Utah http://learn.genetics.utah.edu Genome TV National Human Genome Research Intitute www.genome.gov/GenomeTVLive Global Genetics and Genomics Community Interactive self-guided learning through case studies www.g-3-c.org International Society of Nursing Genetics Connects nurses with a webinar series about genetics www.isong.org/isong_webinars.php My Cancer Genome Information on cancer mutations www.mycancergenome.org National Cancer Institute A fact sheet for genetic testing for hereditary cancer syndromes http://1.usa.gov/1k9Hv5U National Coalition for Health Professional Education in Genetics Educational programs for health professionals in genetics www.nchpeg.org
FIGURE 1. Professional Educational Resources
testing and care (Brandt et al., 2008; Schlich-Bakker, ten Kroode, WárlámRodenhuis, van den Bout, & Ausems, 2007). Domestic and international efforts focus on ethical implications of genetic testing that involve racial discrimination, preservation of human rights, informed consent, and cultural self-determination (MacIntosh, 2005). Healthcare providers, including nurses, will need ongoing education about genetics-based clinical care to combat cultural considerations (Institute of Medicine, 2008; World Health Organization, 2014). 357
Conclusion Many resources support genomic and genetic oncology nursing competencies in practice, education, and research. Among those competencies are risk identification, initiating referrals to genetic counselors, and providing safe, informed treatment and follow-up care. Calzone, Jenkins, Bakos, et al. (2013) provided a framework for research to inform nursing practice and improve health outcomes. Nurses who are prepared in genetics and genomics essentials will provide high-quality, state-of-the-art clinical patient care.
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Wárlám-Rodenhuis, C.C., van den Bout, J., & Ausems, M.G. (2007). Barr iers to par ticipating in genetic counseling and BRCA testing during primary treatment for breast cancer. Genetics in Medicine, 9, 766–777. doi:10.1097/ GIM.0b013e318159a318 Steck, M.B., & Eggert, J.A. (2011). The need to be aware and beware of the genetic information nondiscrimination act [Online exclusive]. Clinical Journal of Oncology Nursing, 15, E34–E41. doi:10.1188/ 11.CJON.E34-E41 U.S. Department of Health and Human Services. (2008). Personalized health care: Pioneers, partnerships, progress. Retrieved from http://bit.ly/1oj2k01 U.S. Preventive Services Task Force. (2013). Risk assessment, genetic counseling, and
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