This chapter from Mastering Pharmacogenomics: A Nurse’s Handbook for Success discusses the challenges nurses face in integrating pharmacogenomics into healthcare and how this field of study ultimately affects patient care.
At every level of practice, nurses will be involved in the application of pharmacogenomics to patient care (Guttmacher, Porteous, & McInerney, 2007). All nurses will need to know the difference between pharmacogenetics
(the study of the role of inheritance in interindividual variation in drug response), and pharmacogenomics
(the technology and knowledge base that analyzes how an individual’s entire genetic makeup affects drug response; Becquemont, 2009). Nurses will need to know that pharmacogenomics deals with the influence of genetic variation on drug response in patients by correlating gene expression or single-nucleotide polymorphisms with a drug’s efficacy or toxicity. They will need to apply their understanding that pharmacogenomics aims to develop rational means to optimize drug therapy, with respect to the patient’s genotype, to ensure maximum efficacy with minimal adverse effects. Nurses, across services settings, will be part of practice and research that is driven by the promise of individualized drug therapy to maximize drug efficacy and minimize drug toxicity.
Science and technology have a way of leaping ahead of the readiness of clinicians to translate the science to patient care. The bench-to-bedside model challenges nurses to rise to a high level of practice with respect to pharmacogenomics. Are nurses ready for this challenge?
This chapter will discuss the roles and responsibilities of entry level and advanced practice nurses in the integration of pharmacogenomics with healthcare. The discussion will expand on the challenges faced by nurses as they endeavor to integrate pharmacogenomics with patient care and will propose that contemporary nursing education is producing nurses who will not be sufficiently prepared to take a significant role in bench-to-bedside pharmacogenomics.
Essential competencies for registered nurses
Nursing faculty continually struggle to find a place in the undergraduate and graduate curricula for relevant content, emerging scientific evidence, and guidelines for efficient translation of findings to patient care. New knowledge competes for the limited time of students who, regardless of their education program (BSN to DNP), must demonstrate competence. With regard to genomics, a minimum expectation of a nurse graduate is that he or she has a basic understanding of genetics and genomics with regard to how these topics relate to and affect clinical practice. Our expectations for enhanced education of healthcare providers in genomics in general, and pharmacogenomics in particular, can be traced back nearly 20 years to the Human Genome Project (Collins, 1997). However, there has been little evaluation of such instruction and application to practice in nursing curriculum. Due to the competing demands of ever-increasing content, an apparent trend in undergraduate and graduate nursing curricula is to integrate genetics and genomics with course content, rather than teach them separately (Giarelli & Reiff, 2012).
In 2006 and 2012, the American Nurses Association defined the essential genetics and genomic competencies for all registered nurses and for advanced practice nurses, respectively (American Nurses Association, 2006; Greco, Tinley, & Siebert, 2011). These guidelines describe professional practice and professional responsibilities. These same guidelines may be translated to define and describe pharmacogenomics competencies. These competencies can be derived and generalized from specific uses of pharmacogenetic clinical exemplars. One exemplar is anticoagulant therapy.
One of the first widespread uses of pharmacogenetics is in prescribing the blood thinner warfarin (Coumadin). This drug has a narrow range of concentration in which it maintains acceptable anticoagulation and avoids adverse reactions. It is often prescribed for patients with cardiovascular disorders, such as atrial fibrillation, pulmonary embolism, and deep vein thrombosis (DVT). Management of warfarin therapy is generally complicated by the range of interaction effects with other medication (Marietta, Romero, & Malone, 2009). Individuals placed on this medication can have a 10-fold difference in the dose needed to be therapeutic. According to Lewis (2012, p. 395), a pharmacogenetic algorithm is available for use when prescribing warfarin.
In 2013, when nurses employed on a cardiac telemetry floor at a regional medical center on the East Coast of the United States were asked whether their patients were evaluated for the two variants in CYP2C9 and one variant of VKORC1, they admitted that they did not know anything about it. These nurses were graduates of a baccalaureate program and stated that one requirement was a course in pharmacology, and genetics was integrated with the curriculum.
Although the use of pharmacogenetic testing for these variants might be considered a standard of care by nurses in genetics, the actual testing is not at the standard conveyed to these nurse-teaching hospitals. Without data to support or refute, one might reasonably presume that “if there is one, there is another, someplace.” Other institutions do not test for CYP2C and VKORC1 variants and employ nurses who have limited information on this practice.
Matching patients to drug therapy as a way to personalize medicine offers opportunities for practicing nurses to:
- Assist in the identification of patients who are likely to suffer an adverse reaction to a drug
- Help identify a drug most likely to be effective
- Help improve their focus and increase the efficiency of monitoring a patient’s response to drug treatment
- Increase their capability to anticipate the course of an illness and prevent complications
These advantages must be integrated with the content of instruction in nursing education. All professions dealing with rapid change and scientific advancements face similar problems. Given that nurses are generalists, they must keep up with increasingly dense and new information and continually seek additional training to understand and interpret the value.
In 1962, Brantl and Esslinger (1964) foretold genetic implications for the nursing curriculum. Ten years ago, Hetteberg and Prows (2004) reminded us of the passage of 40 years since the recommendation that genetics content be included in nursing curricula, and they offered a checklist for evaluating this process. Multiple articles describe the genetics content, the nurse training process, and achievement of expertise (Calzone et al., 2010, 2011; Calzone, Jenkins, Prows, & Masney, 2011; Daack-Hirsch, Dieter, & Quinn Griffin, 2011; Daack-Hirsch, Quinn Griffin, & Dieter, 2011; Greco, 2008; Greco, Tinley, & Seibert, 2011; Jenkins, Bednash, & Malone, 2011; Jenkins, Dimond, & Steinberg, 2001; Jenkins, Grady, & Collins, 2005a, 2005b; Jenkins & Lea, 2005; Lea, Feetham, & Monsen, 2001; Lea & Monsen, 2003; Lea, Skirton, Read, & Williams, 2011; Lewis, Calzone, & Jenkins, 2006). Genetics education has been labeled an ethical imperative (Kegley, 2003). There are ample resources to facilitate inclusion of genetics in nursing curricula and translation to practice, and the content has been delineated and parsed into the domains of nursing responsibilities and professional practice (National Institutes of Health/National Human Genome Research Institute, 2014).
Competency in genetics and genomics was recommended for all registered nurses by the American Association of Colleges of Nursing after deliberation at baccalaureate and master’s education conferences (Calzone, Jenkins et al., 2011). Basically, competencies are grouped into two domains:
professional responsibilities and professional practice. Professional responsibilities for the baccalaureate nurse include:
- Recognizing one’s own attitudes and values related to genetics and genomic science
- Advocating for clients’ access to desired services and resources
- Examining competency of practice on a regular basis, identifying areas of strength and need for professional development
- Incorporating genetic/genomic technologies and information with practice
- Demonstrating importance of tailoring care to the client’s social and cultural profile
- Advocating for the rights of all clients for autonomous, informed genetic- and genomic-related decision-making (Calzone, Jenkins, Prows & Masny, 2011).
Each one of these responsibilities can be adapted to apply to pharmacogenomics.
The professional practice domain for the baccalaureate nurse is more extensive and prescriptive and includes four essential competency areas:
- Nursing assessment: applying/integrating genetic and genomic knowledge
- Referral activities
- Provision of education, care, and support, each with one to eight specific areas of knowledge, and appropriate clinical performance indicators
Each of the essential competency areas further describes subcompetencies and for each of these, an area of knowledge specific to the subcompetency. In addition, clinical performance indicators are associated with each area of knowledge.
The complete list of essential competencies, subcompetencies, specific areas of knowledge, and corresponding clinical performance indicators can be found in Calzone and colleagues (2011) and can be viewed online at the Genetics and Genomics Competency Center for Education (G2C2, 2014).
Adapting a core competency
Nearly all the clinical performance indicators should be adapted to incorporate pharmacogenomics. One must first determine to what extent basic competencies are evident in nursing curricula. Teaching and promoting the application of core genetic/genomic competencies would naturally precede expansion of these competencies to pharmacogenomics.
People react differently to the same dose of the same drug because each person differs in the rates at which his or her body reacts to and metabolizes chemicals and medicines. With our growing understanding of the role of genetics in healthcare, there will be a growing need to develop tests to detect how variants of single or multiple genes affect drug metabolism and gene expression.
Risk assessment and interpretation of the relevance of risk-related data are basic components of advanced practice and will become components of basic nursing care in the future. As part of the process, nurses may be requesting diagnostic tests that help uncover genetic determinants of disease and helping patients to understand how these tests are interpreted. The two principal categories of testing will be pharmacogenetic tests and pharmacogenomic tests.
There are very specific ways that pharmacogenomics may be integrated with core competencies. Table 4.1
provides an example of how pharmacogenomics may be integrated with one specific competency in the professional practice domain and the essential competency of providing education, care, and support to clients with interpretation of selected genomic information or services.
Specific Area of Knowledge
Clinical Performance Indicator
Adapted Performance Indicator:
Components of family history needed to identify disease susceptibility or genetic/genomic condition
Factors in a family and health history that contribute to:
• Disease susceptibility
• Disease characteristics
• Genetic/genomic condition
• Response to treatment
Use of family history information to inform health education
Discuss the interactive effect of factors in the family and health history of genetics in the selection of pharmacotherapeutics in treatment of disease, response to treatment, occurrence of side effects, and potential for adverse events during pharmacotherapy.
Use family history on drug treatment response to inform health education and guidelines on communicating with healthcare providers and medication self-management.
The role of genetic, genomic, environmental, and psychosocial factors in the manifestation of disease
Discuss the interactive roles of pharmacogenetics, pharmacogenomics, environmental, and psychosocial factors in the response to treatment of disease.
Informed consent, procedures, and essential elements
of the nurse, and
the balance of
risks and benefits
Discuss the importance of offering testing for genetic variants prior to administering certain pharmacotherapeutics.
Discuss the application of principles of privacy and confidentiality when consenting to genetic testing for a differential response to drugs.
Adapted from Calzone, Jenkins, Prows, & Masney (2011, p.188).
Adaption of the competencies requires systematic review of the overlap of pharmacogenetics and pharmacogenomics with each specific area of nursing knowledge and with the clinical performance indicators. A formal review and adaptation of the entire table of competencies will assure that the proposed integration becomes a fundamental part of nurse education and that nursing care will be informed by the most current literature and appropriately personalized to the patient’s genetic profile. For the entire list of competencies and indicators for nurses, physician assistants, pharmacists, genetic counselors, and physicians, go to the Genetics and Genomics Competency Center for Education located at www.g-2-c-2.org/.
The essential competencies in genetics and genomics for nurses with graduate degrees add to the core competencies and raise the level of responsibility and practice to match the expectation from all advanced practice nurses. There are 38 essential competencies in genetics and genomics for nurses with graduate degrees that are organized into categories of professional practice and professional responsibilities.
Professional practice for the nurse with a graduate degree defines and describes competencies of:
- Risk assessment and interpretation
- Genetic education, counseling, testing, and result interpretation
- Clinical management
- Ethical, legal, and social implications
Each of these competency areas has a list of associated behaviors to be demonstrated by the advanced practice nurse.
The professional responsibilities expected of the graduate nurse with regard to genetics include professional role, leadership, and research (Greco, Tinley, & Seibert, 2011). This cohort of nurses will soon include those with a doctorate of nursing practice (DNP). Standards of competent practice will be correspondingly higher. DNPs will be expected to translate evidence from pharmacogenomic research to practice.
When personalizing pharmacotherapy, nurses will need to consider several factors in addition to genetics that will mediate effectiveness, or cause variability in drug response. These factors include:
Age of the patient
Comorbid medical and psychiatric disorders
Patient’s ability to adhere to treatment
Patient’s ability to observe for side or adverse effects
Exposures to pollutants, tobacco use
Patient’s ability to understand purpose of the treatment
Family history with diagnosis and drug treatment
Polypharmacy (drug-to-drug interaction, drug-plus-drug synergy)
Route of administration
An important factor that can be addressed during the expert care provided by advanced practice nurses is the patient’s ability to adhere to treatment. Poor medication adherence accounts for 33%–39% of all medication-related hospital admissions and costs approximately $100 billion per year in the United States alone (Osterberg & Blaschke, 2005). Several predictors of poor adherence will need to be adapted to the care of patients receiving medicines tailored to the individual genetic profile. Predictors that may be especially important to address with this population are:
- Complexity of treatment
- Cognitive impairment
- Inadequate follow-up or discharge
- Patient’s lack of belief in the treatment
- Patient’s understanding of the role of genetics in health
Pharmacogenomics measures aspects of an individual’s response to drug therapy. This knowledge provides information about genetic variation that will allow more careful selection of drug and dosage regimen. With this information, nurses can more accurately and comprehensively monitor a patient’s response to treatment and communicate relevant observations to other healthcare professionals, including prescribers and suppliers of pharmacotherapeutics.
Challenges to integration by nurses
Several challenges must be overcome to achieve the worthy goal of integrating pharmacogenomics with nursing care. The system-level obstacles are difficult to change, but if done, will be instrumental in affecting patient-nurse level change. Four main challenges are:
- Limited time in densely packed nursing curricula
- Evolving complexity of the science
- Uncertainty of the relevance of genomes to pharmacotherapy
- Limited funding for nursing research
Unless nursing curricula build in significant genetics content with nursing content, students will not be able to recognize the importance of genomics to patient care. When strong scientific evidence shows support of the value of pharmacogenomics testing and translation for patient care, there is good reason to feature such testing as part of the overall treatment plan. One way to accomplish this is to assure that basic genetic concepts are taught consistently and uniformly across school curricula.
Increase time in curricula for genomics
A review of the content of baccalaureate nursing programs in the United States has uncovered a general inconsistency that may contribute to differences in nurses’ knowledge of and application of genetic concepts to practice. Only 25% (n = 191) of the programs required a stand-alone course in genetics, while 75% had programs that integrated genetics content with other nursing content (Giarelli & Reiff, 2012). No data is available confirming that graduates of these programs are integrating their knowledge of genetics with patient care. However, based on the complexity and evolving nature of the science, one could argue the case for the need to include a course in basics genetics/genomic concepts as well as a curriculum with full integration of these concepts with principles of nursing care.
Opportunities to learn complexity of the science
One significant challenge to integration is the evolving complexity of the science and its application. Many healthcare professionals were educated before the advent of pharmacogenomics, including nurses who graduated from any program prior to the onset of the Human Genome Project (1990) and, likely, until the human genome was sequenced and reported in 2003. Many, but not all, of these nurses are returning to earn their baccalaureate degrees. Unless these nurses returned to school in the last decade for advanced study, they may have little understanding of genetics and limited access to formal instruction. These nurses will need to learn the genomic vocabulary as it relates to treatment choices.
For example, few nurses may understand the clinical significance of the TATA box of the UGT1A1 gene (Nussbaum, McInnes, & Willard, 2007). For the nurse practicing in cancer care, it is important to know that polymorphisms of this gene contribute to an inherited variation in the toxicity of antineoplastics such as irinotecam (Camptosar; Innocenti & Ratain, 2004; Marsh & McLeon, 2004). This polymorphism and the polymorphisms affecting response to warfarin are noted in the FDA drug labels for these drugs. There are more than 50 pharmaceuticals with pharmacogenomic indications. This example illustrates the need for persistent continuing education, which may not be available to some or of interest to others
The mandates for employers and advocates from within the nursing profession are to develop ways to provide continuing education without causing a financial or significant time burden to nurses and to stimulate their interest. Realizing either of these mandates will require considerable creativity.
Nurses may also not understand that variations in drug effects can be further classified as those due to either pharmacokinetic (drug metabolism, transport) or pharmacodynamic (drug targets) factors (Weinshilboum & Wang, 2004). These concepts must be understood along with the genetic concepts, such as gene-gene interactions, gene expression, polymorphisms, genotyping, and phenotyping. A relevant course in nursing curricula is pharmacology—and, ideally, pharmacogenomics. Furthermore, if nursing faculty do not possess a sophisticated understanding of these concepts, they will not be able to satisfactorily integrate them with nursing content.
Decrease uncertainty of relevance
A challenge to preparing all nurses with knowledge of pharmacogenomics is their uncertainty of the relevance of genomics to general patient care. If a nurse believes that the content is relevant, he/she will be more likely to be interested in learning. One way to accomplish this is to demonstrate the relevance—using a simple illustration that, by developing a genetic profile with a positive predictive value for toxicity or an adverse reaction, nurses may be able to assure immediate and possibly long-term benefits for their patients. Minimally, nurses will satisfy an ethical obligation first to do no harm. The following examples illustrate this point.
A fundamental concept that crosses all areas of nursing care is pain. Nurses will believe the relevance of genetics if the pharmacogenomics of pain management is a thematic content strand. Nearly all patients will experience pain at some point, and all nurses must become experts in the assessment and treatment of pain.
Additionally, chronic pain management is a growing concern in the United States, and the use of opioids to treat pain (cancer- and noncancer-related) is a topic of discussion in the medical community and a contentious social issue when opiates are misused. The facts of addiction and efficacy make the use of opiates challenging, valuable, and controversial. Nurses monitoring patients’ uses of pain medication track dosages and evaluate tolerance and side effects.
Substantial progress has been made in understanding how genetic variation can influence a patient’s response to pain therapy, especially with regard to metabolic enzymes and opiate receptors (Stamer, Zhang, & Stuber, 2003). The majority of opioids used in pain management are metabolized by CYPs and/or UGT2B7 (Jannetto & Bratanow, 2009).
Nurses will prescribe codeine to patients across the lifespan. Codeine, for example, is converted in the liver by CYP2D6 to morphine. A person with the gene variant that causes poor metabolization of codeine will have less pain relief due to less availability of the metabolite (morphine). Without knowing this genetic difference, accurate dosing is unpredictable. The patient is unlikely to receive adequate analgesia from this drug (Snozek, Langman, & Dasqupta, 2012). Without pharmacogenomics testing, the prescribing physician and administering nurse may suspect a patient of drug diversion or exaggerating the level of perceived pain. Either assumption may lead to inappropriate and/or insensitive care. With pharmacogenomics testing and a comprehensive understanding of the variables and science, the nurse will be able to provide therapy and support, and accurately collect data from ongoing therapeutic drug monitoring.
Ethnicity and race
Ethnic and racial differences in response to drug therapy are well known (Burroughs, Maxey, & Levy, 2002; Wilson et al., 2001). There is some evidence that these differences associate with genetic factors. Drug response is a complex trait and cannot be simply explained by describing differences among various racial groups in the frequencies of alleles involved in pharmacokinetic and pharmacodynamics components of drug therapy. According to Burchard et al. (2003), debate exists as to whether clinicians should include ethnicity and/or race as factors in decision making about drug choice. There is also debate and uncertainty as to the extent to which ethnic or racial groups are representative or inclusive of all or the majority. Cooper, Kaufman, and Ward (2003) posited that racial and ethnic labels are approximations and cannot be used to categorize or understand all members of the set. Geographic area may be as meaningful a label as ethnicity or race to organize information about medically relevant genetic differences.
Nurses must be sensitive to the controversy associated with the role of ethnicity and race in personalized drug therapy while being open to consider the role of associated factors, such as environment, social experiences, diet, and potential effects of discrimination.
Racial disparities in blood pressure control have been well documented in the United States (Egan, Zhao, & Axon, 2010). Consistent findings show that Black Americans have high rates of cardiovascular disease (CVD) and related behavioral risk factors (Lee et al., 2013). Black Americans have been understudied in genome-wide association studies of diabetes and related traits. Klimentidis et al. (2012) reported an association between blood pressure and ancestry-informative markers near a marker identified by a genome-wide association study of ethnic and racial factors of systolic and diastolic blood pressure. They reported differences in risk factors for elevated blood pressure among ethnic/racial groups. Further, they emphasized the importance of including social and behavioral measures to fully explain the genetic/environmental etiology of disparities in blood pressure.
Inherited variations within human populations
Studying geographic subgroups is another way to understand race, ethnicity, and socially constructed variables. Luca and colleagues (2008) studied 12 population samples included in our study of NAT2 variation; these populations cover a geographic area extending from Africa north of the equator to south and east Europe and northeast Asia to the Beringian coast. The extremes of the geographic range include three African populations (Dendi from Nigeria and the Amhara and Oromo from Ethiopia) and a Siberian population from the Chukotka peninsula.
According to Weinshilboum and Wang (2004), a majority of inherited variations in drug response (pharmacogenetic traits) have involved drug metabolism. For example, one trait, which was recognized one-half century ago, is an inherited variation in N
-acetylation, now known to be due to polymorphisms in the N
-acetyltransferase-2 (NAT2) gene (Timbrell, Harland, & Facchini, 1980). Genetic variation in NAT2 is responsible for phenotypic variation in the pharmacokinetics and, therefore, the effects of drugs as different as hydralazine for hypertension and procainamide for dysrhythmia (Weinshilboum & Wang, 2004).
Furthermore, Irvin et al. (2011) examined the joint association of single nucleotide polymorphisms (SNPs) and copy number variants (CNVs) with fasting insulin and an index of insulin resistance (HOMA-IR) in the HyperGEN study, a family-based study with proband ascertainment for hypertension.
Proband is a term used in medical genetics and other medical fields to identify a particular person being studied or treated. When whole families are studied for patterns of inheritance of genetic disorders, the proband is the first affected family member being treated.
These are just a few of the recent scientific reports on the evolving body of evidence that links complex genetic, environmental, and “social constructed” traits (including race and ethnicity) with variation in pharmacokinetics. The pace of discovery is overtaking (and will likely accelerate) the pace of nursing education and student learning.
Limited funding for nursing research
The National Institutes of Health (NIH) Roadmap places a high priority on discovery and understanding of complex biological systems and the need to assemble teams of scientists with different and complementary perspectives and expertise. This may be interpreted to include nurse scientists who endeavor to study patient outcomes with respect to pharmacogenomics developments. There are limited funding opportunities available to systematically study creative approaches to presenting and translating this complex and dynamic body of knowledge to practicing nurses.
Is nursing ready?
Looking to the future and given the great promise of pharmacogenomics, one might predict a significant increase in the use of genetic testing prior to pharmacotherapy. Looking to the past at the guarded integration of genetics and pharmacogenomics in nursing education and practice, one might predict a deficiency in the ability of healthcare professionals to appropriately translate the science and educate patients and families. The broad scope of the results of genetic testing in general will require that patients receive complex and detailed information before they consent to being tested. The standard of care for predictive testing dictates that patients receive an explanation of the relevance of findings and recommendations for promoting or restoring health.
Easily understood and well-constructed instructional materials incorporating pharmacogenomics will be essential to assist patients to make informed decisions. This information will need to be continually updated and modified for general instruction, as well as updated and personalized to the situational factors and clinical profiles of individual patients.
A nurse who oversees the process of patient education on pharmacogenomics will find this responsibility daunting. Whole genome sequences will need to be reviewed regularly by teams of professionals to incorporate new information about risk and efficacy, and then change treatment strategies based on these assessments. Given the rapidity of scientific discovery and the translation of discovery to patient care, even advanced practice nurses will struggle to keep pace.
Looking ahead, there may be an insufficient number of genetic counselors to whom patients may be referred for additional information, and physicians will be coping with a growing cohort of patients for whom pharmacogenomics will be the standard of care (Ormond et al., 2010). Nurses may be required to step into an updated role and provide, at minimum, basic genetic/genomic information at the bedside. Working within the boundaries of the contemporary system of nursing education, patient workloads, and other professional expectations, attaining the ideal of best-practice patient education and follow-up seems, at this junction, perhaps impossible. Even with the intention to integrate genetics into the curriculum, faculty will struggle to keep pace with discovery.
Without assuring that nursing faculty embrace the relevance of advances in pharmacogenomics to patient care, contemporary nursing education will be producing graduates who will not be sufficiently prepared to take a significant role in bench-to-bedside translation.
Proposition: Personal relevance leads to changes in professional practice
One way to counter this trend or prevent this portent is to systematically identify and study creative approaches to integrating this complex and dynamic body of knowledge with faculty preparation and student training. This is easier to state than achieve, but the instrumental link is “personal relevance.”
Advocates of genetics and pharmacogenomics in nursing curricula imagine that these topics are relevant in and of themselves. This is error in judgment because of the great variation in personal experience and ability to comprehend the science. What is relevant to one person may be completely irrelevant to another, even when a teacher attempts to inculcate the set of ideas that should be embraced as valuable. Nursing curricula is replete with relevant information. That which is immediately and repeatedly used, in effect, shifts to the top. All the information provided to nursing students may be important and valuable but may not necessarily be relevant. Relevance implies having meaning or a specific connection to an individual. Information, albeit important, does not become relevant simply by being stated as such by an authority.
Thus, the challenge to nursing is to make pharmacogenomics more concrete and personal for each student and faculty and thereafter highlight its relevance beyond the personal context. Two questions, therefore, are before us:
- What may be the effect on learning, belief of relevance, and ability to translate to patient care if every nursing faculty and student is provided with their own genetic/genomic/pharmacogenomics testing and counseling?
- Are we ready?
Bench-to-bedside translation of pharmacogenomics would specifically include:
a. Three-generation family pedigree
b. Provision of genetic/genomic educational resources to patients
c. Assessment of the patient’s personal genetic variants that affect drug response
d. Assuring the patient provides informed consent
All the following are advantages of pharmacogenomics except:
a. Allows appropriate dose adjustment
b. Allows accurate monitoring of expected response
c. Informs alternative therapeutic selection before exposure to the drug
d. Prevents all occurrences of side and adverse events
Describe the problem faced by nursing profession with regard to the integration of pharmacogenomics with patient care.
All professions undergo rapid change and increasing specialization. With the rapid pace of discovery in genomics, nurses are having difficulty keeping pace with, learning, and translating new knowledge to practice in order to improve patient care. There is a wide range of educational preparation of the bedside nurse, from diploma school graduate to master’s degree–prepared. There is also a wide range in the content and process of genetics instruction and the inclusion of pharmacogenomics in nursing curricula. This results in a population of practicing nurses who have varying degrees of interest in learning about, ability to apply, and belief in the relevance of pharmacogenomics to bedside nursing care.
- Genetics core competencies can be adapted to add a focus on pharmacogenomics.
- Nursing faculty need specific preparation in genetics.
- Nursing faculty need further preparation on how to integrate pharmacogenomics with nursing curricula. RNL
Ellen Giarelli, EdD, RN, CRNP, is an advanced practice nurse with a postdoctorate degree in psychosocial oncology and HIV/AIDS from the University of Pennsylvania.
Dale Halsey Leah, MPH, RN, CGC, APNG, is an advanced practice nurse in genetics and a board certified genetic counselor. Dennis J. Cheek, PhD, RN, FAHA, is the Abell-Hanger Professor in Gerontological Nursing at Texas Christian University-Harris College of Nursing and Health Sciences, with a joint appointment in the School of Nurse Anesthesia. Daniel Brazeau, PhD, is director of the University of New England’s Genomics, Analytics and Proteomics Core and a research associate professor in the Department of Pharmaceutical Sciences, College of Pharmacy. Gayle Brazeau, PhD, is dean and professor in the College of Pharmacy at the University of New England.
Becquemont, L. (2009). Pharmacogenomics of adverse drug reactions: Practical applications and perspectives. Pharmacogenomics, 10(6), 961–969.
Brantl, V. M., & Esslinger, P. N. (1964). Genetic implications for the nursing curriculum. Nursing Forum, 1(2), 90–100.
Burchard, E. G., Ziv, E., Coyle, N., Gomez, S. L., Tang, H., Karter, A. J., … Risch, N. (2003). The importance of race and ethnic background in biomedical research and clinical practice. The New England Journal of Medicine, 348(12), 1170–1175.
Burroughs, V. J., Maxey, R. W., & Levy, R. A. (2002). Racial and ethnic differences in response to medicines: Towards individualized pharmaceutical treatment. Journal of the National Medical Association, 94(10 Suppl), 1–26.
Collins, F. (1997). Preparing health professionals for the genetic revolution. JAMA, 278(15), 1285-1286.
Calzone, K., Cashion, A., Feetham, S. L., Jenkins, J., Prows, C. A., Williams, J., & Wung, S. F. (2010). Nurses transforming health care using genetics and genomics. Nursing Outlook, 58(1), 26–35.
Calzone, K., Jenkins, J., Prows, C. A., & Masney, A. (2011). Establishing the outcome indicators for the essential nursing competencies and curricul guidelines for genetics and genomics. Journal of Professional Nursing, 27(3), 179–191.
Calzone, K., Jerome-D’Emilia, B., Jenkins, J., Goldgar, C., Rackover, M., Jackson, J., … Feero, W. G. (2011). Establishment of the Genetic/Genomic Competency Center for Education. Journal of Nursing Scholarship, 43(4), 351–358.
Cooper, R. S., Kaufman, J. S., & Ward, R. (2003). Race and genomics. The New England Journal of Medicine, 348(12), 1166–1169.
Daack-Hirsch, S., Dieter, C., & Quinn Griffin, M. T. (2011). Integrating genomics into undergraduate nursing education. Journal of Nursing Scholarship, 43(3), 223–230. doi: 10.1111/j.1547-5069.2011.01400.x
Daack-Hirsch, S., Quinn Griffin, M. T., & Dieter, C. (2011). Integrating genomics into undergraduate nursing education. Journal of Nursing Scholarship, 43(3), 221–327.
Egan, B. M., Zhao, Y., & Axon, R. N. (2010). US trends in prevalence, awareness, treatment, and control of hypertension, 1988-2008. JAMA, 303(20), 2043–2050.
Genetics and Genomics Competency Center for Education (G2C2). Competency guidelines and curriculum map. Retrieved from http://genomicseducation.net/
Giarelli, E. & Reiff, M. (2012). Genomic literacy and competent practice: Call for research on genetics in nursing education. Nursing Clinics of North America, 47, 529–545. doi:10.1016/j.cnur.2012.07.006
Greco, K. (2008). Integrating ethical guidelines with scope and standards of genetics and genomics nursing practice. In R. B. Monsen (Ed.), Genetics and ethics in health care: New questions in the age of genomic health. Silver Springs, MD: American Nurses Association.
Greco, K. E., Tinley, S., & Seibert, D. (2011). Essential genetic and genomic competencies for nurses with graduate degrees. Silver Springs, MD: American Nurses Association and International Society of Nurses in Genetics. Retrieved from http://www.nursingworld.org/MainMenuCategories/EthicsStandards/
Guttmacher, A. E., Porteous, M. E., & McInerney, J. D. (2007). Educating health-care professionals about genetics and genomics. Nature Reviews Genetics, 8(2), 151–157. doi: doi:10.1038/nrg2007
Hetteberg, C. G., & Prows, C. A. (2004). A checklist to assist in the integration of genetics into nursing curricula. Nursing Outlook, 52(2), 85–88.
Innocenti, F., & Ratain, M. J. (2004). “Irinogenetics” and UGT1A: From genotypes to haplotypes. Clinical Pharmacology & Therapeutics, 75(6), 495–500.
Irvin, M. R., Wineinger, N. E., Rice, T. K., Pajewski, N. M., Kabagambe, E. K., Gu, C., … Arnett, D. K. (2011). Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study. PLoS ONE [Electronic Resource], 6
(8), e24052. Retrieved from http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0024052
Jannetto, P. J., & Bratanow, N. C. (2009). Utilization of pharmacogenomics and therapeutic drug monitoring for opioid pain management. Pharmacogenomics, 10(7), 1157–1167.
Jenkins, J., Bednash, G., & Malone, B. (2011). Guest editorial: Bridging the gap between genomic discoveries and clinical care: nurse faculty are key. Journal of Nursing Scholarship, 43(1), 1–2.
Jenkins, J., Dimond, E., & Steinberg, S. (2001). Preparing for the future through genetics nursing education. Journal of Nursing Scholarship, 33(2), 191–195.
Jenkins, J., Grady, P., & Collins, F. S. (2005a). Nurses and the genomic revolution. Journal of Nursing Scholarship, 37(2), 98–101.
Jenkins, J., Grady, P., & Collins, F. S. (2005b). Nurses and the genomic revolutions. Journal of Nursing Scholarship, 37(2), 98–101.
Jenkins, J., & Lea, D. H. (2005). Nursing care in the genomic era: A case-based approach. Sudbury, MA: Jones & Bartlett.
Kegley, J. (2003). An ethical imperative: Genetics education for physicians and patients. Med Law Review, 22(2), 275–283.
Klimentidis, Y. C., Dulin-Keita, A., Casazza, K., Willig, A. L., Allison, D. B., & Fernandez, J. R. (2012). Genetic admixture, social-behavioural factors and body composition are associated with blood pressure differently by racial-ethnic group among children. Journal of Human Hypertension, 26(2), 98–107.
Lea, D. H., Feetham, S. L., & Monsen, R. B. (2001). Genomic-based health care in nursing: A bidirectional approach to bringing genetics into nursing’s body of knowledge. Journal of Professional Nursing, 18(3), 120–129.
Lea, D. H., & Monsen, R. B. (2003). Preparing nurses for a 21st Century role in genomics-based health care. Nursing Education Perspectives, 24(2), 75–80.
Lea, D. H., Skirton, H., Read, C. Y., & Williams, J. (2011). Implications for educating the next generation of nurses on genetics and genomics in the 21st Century. Journal of Nursing Scholarship, 43(1), 3–12.
Lee, H., Kershaw, K. N., Hicken, M. T., Abdou, C. M., Williams, E. S., Rivera-O’Reilly, N., & Jackson, J. S. (2013). Cardiovascular disease among Black Americans: Comparisons between the U.S. Virgin Islands and the 50 U.S. states. Public Health Reports, 128(3), 170–178.
Lewis, J. A., Calzone, K., & Jenkins, J. (2006). Essential nursing competencies and curriculum guidelines for genetics and genomics. Maternal Child Nursing, 31(3), 146–153.
Lewis, R. (2012). Human genetics: Concepts and applications (10th ed.). New York, NY: McGraw Hill.
Luca, F., Bubba, L., Basile, M., Brdicka, R., Michalodimitrakis, E., Rickards, O., … Novelletto, A. (2008). Multiple advantageous amino acid variants in the NAT2
gene in human populations. PLoS, (September 5). Retrieved from http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0003136
. doi: 10.1371/journal.pone.0003136
Marietta, A., Romero, K., & Malone, D. C. (2009). Warfarin interactions with substances listed in drug information compendia and in the FDA-approved label for warfarin sodium. Clinical Pharmacology & Therapeutics, 86(4), 425–429.
Marsh, S., & McLeon, H. L. (2004). Pharmacogenetics of irinotecan toxicity. Pharmacogenomics, 5(7), 835–843.
National Institutes of Health/National Human Genome Research Institute. (2014). Genetics/Genomics Competency Center for Education. Retrieved from http://www.g-2-c-2.org/
Nussbaum, R. L., McInnes, R. R., & Willard, H. F. (2007). The human genome: Gene structure and function (chapter 3
, pp 25–39). In Thompson & Thompson genetics in medicine
. Philadelphia: Elsevier.
Ormond, K. E., Wheeler, M. T., Hudgins, L., Klein, T. E., Butte, A. J., Altman, R. B., … Greely, H. T. (2010). Challenges in the clinical application of whole-genome sequencing. The Lancet, 375(9727), 1749–1751.
Osterberg, L., & Blaschke, T. (2005). Adherence to medication. The New England Journal of Medicine, 353(5), 487–497.
Snozek, C., Langman, L. J., & Dasgupta, A. (2012). Traditional therapeutic drug monitoring and pharmacogenomics: Are they complementary? In L.J. Langman, A. Dasgupta (Eds.) Pharmacogenomics in Clinical Therapeutics (pp15–25). Wiley-Blackwell. doi:10.1002/9781119959601.ch2
Stamer, U. M., Zhang, L., & Stuber, P. (2003). Personalized therapy in pain management: Where do we stand? Pharmacogenomics, 11(6), 843–864.
Timbrell, J. A., Harland, S. J., & Facchini, V. (1980). Polymorphic acetylation of hydralazine. Clinical Pharmacology & Therapeutics, 28(3), 350–355.
Weinshilboum, R., & Wang, L. (2004). Pharmacogenomics: Bench to bedside. Nature Reviews Drug Discovery, 3(9), 739–749.
Wilson, J. F., Weale, M. E., Smith, A. C., Gratrix, F., Fletcher, B., Thomas, M. G., … Goldstein, D. (2001). Population genetic structure of variable drug resonse. Nature Genetics, 29(3), 265–269.