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Keywords:

  • Genetics;
  • genomics;
  • genetic testing;
  • pharmacogenomics;
  • family history;
  • genetic counseling;
  • nursing education

Abstract

  1. Top of page
  2. Abstract
  3. Family History
  4. Genetic and Genomic Research and Nursing Education
  5. Genetic Testing: Expanded Use and Examples in Clinical Settings
  6. Direct-to-Consumer Genetic Testing
  7. Gene-Based Treatments and Interventions
  8. Nursing and Genomic Health Care
  9. Conclusions
  10. Clinical Resources
  11. References

Purpose: To provide nurse educators with an updated overview of advances in genetics and genomics in the context of the holistic perspective of nursing.

Organizing Framework: Recent advances in genetic and genomic research, testing, therapies, and resources are presented, and the continuing importance of the family history is discussed.

Methods: Genomic nurse experts reviewed recent literature and consumer resources to elucidate updates in technology through the lens of the genetically vulnerable patient and family.

Findings: Genetic and genomic technologies are becoming routinely used in health care, and nurse educators will be challenged to incorporate these technologies and implications for patients and families into educational programs.

Conclusions: New technology and its applications are perennial challenges to nurse educators, but the common focus for nursing, historically and geographically, is health promotion, symptom management, and disease prevention. Education for the next generation of nurses can lay a foundation in genetics and genomics that will enable interpretation and responsible integration of new technologies in a context of individual and family value systems, personal experiences, risk perception, decision consequences, and available resources.

Clinical Relevance: Nurses are ideally situated to inform patients about new options in healthcare, and nurse educators are challenged to prepare their students to interpret andresponsibly integrate new genetic-genomic information into practice.

The mapping and sequencing of the human genome in 2003 enhanced opportunities for continuously evolving research technologies that are used to identify genetic and genomic factors and determine their biologic function leading to pathology in health and in rare and common diseases. Genetic research has expanded to genomics, which involves the study of all of the genes in the human genome as well as their interactions with other genes, the individual's environment, and the influence of cultural and psychosocial factors (Consensus Panel on Genetic/Genomic Nursing Competencies, 2009; Jenkins, Grady, & Collins, 2005). In this paper, the implications for nurse educators in educating the next generation of nurses on genetics and genomics are described.

In the 20th century, nurse educators adapted their curricula as technologies such as electrocardiography, antibiotics, and dialysis changed nursing practice. In the 21st century, one of the primary challenges to nurse educators derives from the sciences of genetics and genomics, and it is essential that nurse educators expand the discussion to include not only the new technology and its impact on healthcare but also individual and family concerns about and responses to genetic and genomic information.

Hamilton and Bowers (2007) described a theory of genetic vulnerability that provides insight into individual and family concerns when confronted with genetic information. The theory describes the influence of family experiences and value systems on the individual's understanding of the genetic facts, the difficult nature of decision making, and the variability in personal risk interpretation. Attention to these issues promotes patient adaptation to genetic and genomic information about health promotion and disease prevention, a unifying focus of nursing across the world and throughout the ages. One source of information about a person's risk for disease is knowledge of diseases and health conditions that are present in other family members.

Family History

  1. Top of page
  2. Abstract
  3. Family History
  4. Genetic and Genomic Research and Nursing Education
  5. Genetic Testing: Expanded Use and Examples in Clinical Settings
  6. Direct-to-Consumer Genetic Testing
  7. Gene-Based Treatments and Interventions
  8. Nursing and Genomic Health Care
  9. Conclusions
  10. Clinical Resources
  11. References

Obtaining a family history is an established and familiar screening activity used by nurses and other healthcare providers across many healthcare settings. Knowledge of the illnesses and causes of death of biologically related family members gives the nurse important information about shared genes, environment, and lifestyle behaviors that may increase a person's risks for the same diseases. Knowledge of a family health history also contributes to decisions regarding who may benefit from genetic testing for common and rare conditions, and for factors influencing treatment choices (Berg et al., 2009). Identification of conditions that pose a serious health risk is an important goal of a genetic family history. For example, the recognition by a nurse that a child's parent died at a young age from colon cancer may lead to further evaluation and recognition of familial adenomatous polyposis, a familial cancer syndrome for which the child and siblings are at risk.

The discussion that takes place during a nursing review of family history is an important opportunity for evaluation of risk reduction activities when there may be genetic or genomic factors increasing risk for disease. For example, nurses who interviewed White and Black women with a family history of breast cancer found that many of the women in this study were unaware of associations between lifestyle behaviors and risk for breast cancer. About one-third of these women who had one or more sisters with breast cancer reported making lifestyle changes (Spector et al., 2009).

Several tools are available for obtaining a family history. In 2004, the U.S. Surgeon General instituted a web-based tool to assist individuals and their families to share and record their own family's medical histories (U.S. Department of Human Services, 2010). However, ways in which to help families make use of this tool are not well understood. In a recent National Institutes of Health (NIH) report, researchers noted that among studies of individuals in the United States, being female, having health insurance, and having a moderate to high socioeconomic status increased the likelihood that a family history could be provided. This report also concluded that people are more likely to accurately report the absence of a disease rather than the presence of a disease in family members, and the ability to report family health history information was better for first-degree relatives than for second-degree relatives. There is less accuracy for reporting a family history of mental illness, which may reflect both the difficulty people have in reporting this information about themselves, as well as limited sharing of this information within a family (Berg et al., 2009). Furthermore, some populations may not find computerized tools to be useful. Nurses and other healthcare providers recently conducted a study in which urban Appalachian women were asked how they would like to learn about their own family health histories (Wallace et al., 2009). The participants preferred an interactive format for education programs regarding one's family history. This led to education sessions and materials that were tailored for this community.

Numerous factors may influence the accuracy and usefulness of a genetic family history for identifying risk for disease or selection of treatment options. When nurses obtain and evaluate a family health history, there are several points to keep in mind. Factors such as limited knowledge of family members’ medical information or reluctance to reveal sensitive information may limit the accuracy of a family health history. The context in which the history is being discussed can also limit full disclosure. For example, parents may not wish to discuss information that they consider to be private in front of their minor age or adult children. The definition of family may differ when viewed from the perspective of a nurse or healthcare provider, and from the perspective of members of some ethnic or cultural groups (Berg et al., 2009). In addition to recognizing and adapting the family history process to individual and family circumstances, nurses can use the process of obtaining a family history as an opportunity to determine how family members use this information in decisions about their own health habits for risk reduction of disease. Nurses in Japan who investigated risk reduction behavior of offspring of people with type 2 diabetes found that offspring were less likely to view the family as a reliable source of information, despite family being their most frequent information source. Examining attitudes regarding family member advice may be useful for nurses who plan family-focused health promotion education regarding genetic predisposition to diabetes in this culture (Nishigaki et al., 2008). Family history can identify at-risk members who may benefit from genetic testing or new gene-influenced or -targeted treatments.

Genetic and Genomic Research and Nursing Education

  1. Top of page
  2. Abstract
  3. Family History
  4. Genetic and Genomic Research and Nursing Education
  5. Genetic Testing: Expanded Use and Examples in Clinical Settings
  6. Direct-to-Consumer Genetic Testing
  7. Gene-Based Treatments and Interventions
  8. Nursing and Genomic Health Care
  9. Conclusions
  10. Clinical Resources
  11. References

Rapidly advancing technologies are generating discoveries that improve our testing capabilities, provide insight into the molecular mechanisms of disease, and provide new directions for therapeutic strategies for rare and common diseases. These technologies may be useful for those who have a family history of a condition with genetic components, as well as for those who do not. One major initiative that has helped move health professionals toward a greater understanding of genes and common diseases is the International HapMap. Genetic variation creates the diversity of characteristics in human beings and, in some cases, causes disease. The HapMap project has created a catalog of DNA segments with tightly linked common genetic variations. These segments, called haplotypes, initially identified throughout the human genome in populations of European, African, and Asian descent, have now been expanded from the newer phase of the HapMap project to other, more diverse populations. The HapMap catalog is proving to be a valuable resource for interrogating the genome for variant genetic factors that contribute to conditions such as age-related blindness and obesity (Adeyemo & Rotimi, 2010; Ku, Loy, Pawitan, & Chia, 2010).

Genome-wide association studies (GWAS) were greatly improved by using haplotype technology. These studies are increasing understanding of genetic and genomic variants that are associated with rare and common diseases, normal trait variation, and symptoms such as pain sensation. GWAS involve scanning the genomes from a large sample of cases and controls to identify genetic risk variants found at higher frequency and protective variants at lower frequency in cases than controls for a particular common disease. Identified variants may be found in known genes, previously unrecognized genes, or stretches of DNA that do not code for protein. Replication of GWAS in various populations is essential. Once variants associated with a common disease are validated, investigators are challenged with determining the biologic basis for their contribution to disease pathology. Such knowledge serves as a foundation for the development of better risk reduction and treatment strategies. In the past 3 years, GWAS have generated a significant amount of new information about various human traits and complex diseases such as prostate and breast cancer (Ku et al., 2010). However, it is important to keep in mind that there are limitations to these studies, particularly that the known contribution of each variant to overall risk may be relatively small. Variants of large risk have nevertheless been identified (Hattersley & McCarthy, 2005).

As a result of the new and expanding genetic and genomic research, a growing number of genetic tests are available for the screening, diagnosis, and treatment of rare and common diseases. All nurses will need to become knowledgeable about the basics of genetics and genomics and their applications to clinical care so that they can provide quality healthcare that is appropriate to their setting, population, geographical location, access, and coverage. This knowledge will allow nurses to provide appropriate information to patients regarding genetic tests that are part of their own health care (Consensus Panel on Genetic/Genomic Nursing Competencies, 2009). Nurse educators can make their students aware of the new research studies and their application to health care, and interpret these new discoveries to determine how they apply to health care, including how to evaluate the discovery against the ethical principles that guide the use of genetic and genomic information. This includes the current uses of genetic testing for rare and common diseases, gene-based treatments, and interventions, and the continuing importance of the role of family history in health and disease (Kirk & Tonkin, 2009). Nurse educators can include examples of the various applications of genetic testing in screening for risk for disease, diagnosis, and treatment decisions for rare and common diseases by integrating genetic and genomic concepts into courses such as pharmacology, maternal and child health, and adult health. In clinical specialty courses, an important role for nurse educators is to provide students with the opportunity to take basic genetic/genomic information and research findings and explore the specific genetic/genomic conditions in more detail. Students can incorporate genetics and genomics into their written clinical assessments and reports, and include genetic/genomic references when they are presenting a clinical case. For example, evaluating family history for risk of common chronic disorders could be a required activity for students undertaking a women's health course or rotation (Seibert, Quanetta, & Edwards, 2007). Nurse educators can use these experiences to increase students’ understanding of how family experiences and value systems influence individuals’ understanding of the genetic/genomic facts, the difficult nature of decision-making, and the variability in personal risk interpretation (Hamilton & Bowers, 2007). Integration of genetic and genomic content within the family context familiarizes students with available genetic evaluation and counseling services for their patients and families, as well as reliable genetic and genomic resources and education materials that can support families in their decision making and adaptation to their personal and family genetic/genomic condition or genetic risk.

Genetic Testing: Expanded Use and Examples in Clinical Settings

  1. Top of page
  2. Abstract
  3. Family History
  4. Genetic and Genomic Research and Nursing Education
  5. Genetic Testing: Expanded Use and Examples in Clinical Settings
  6. Direct-to-Consumer Genetic Testing
  7. Gene-Based Treatments and Interventions
  8. Nursing and Genomic Health Care
  9. Conclusions
  10. Clinical Resources
  11. References

The terms genetic testing and genetic screening are frequently used interchangeably by nurses; however, the underlying rationales and clinical outcomes of testing and screening are both quantitatively and qualitatively different. Screening is a process by which individuals in the general population (most of whom will be at low risk for having the condition) are offered investigations that provide a refined level of risk. Decisions about further investigations can then be based on the screening results. One primary use of the term genetic testing refers to those investigations that provide a definitive diagnosis, variant gene carrier status, or information about genetic predisposition status. While genetic information leading to diagnosis may be obtained through a range of clinical investigations (e.g., through ultrasound scanning for renal cysts in adult polycystic kidney disease), for the purposes of this paper we will focus on testing based on DNA, RNA, or protein products.

Genetic tests are offered to those suspected of having a genetic condition or identified as being in a high-risk group within a population, such as individuals known to be at risk for carrying or being affected by a specific condition because of family history or as a result of screening. For example, in many countries, pregnant women are routinely offered screening for congenital abnormalities such as Down syndrome (Tapon, 2010). The investigations provide the woman and her partner with a relative risk for the fetus having the specific condition or conditions for which the screening has been offered. If the risk is considered to be significant, then the prospective parents may be offered further diagnostic genetic testing (via samples taken using amniocentesis or chorionic villus sampling) to obtain a firm diagnosis. Nurses also often provide education and support to couples making these decisions.

The number of conditions for which screening is offered in the antenatal and neonatal period is expanding rapidly, due at least partly to the new laboratory technique known as tandem mass spectrometry. This instrumentation enables multiple samples (usually blood or serum) to be tested simultaneously for a large number of conditions (Kaye & the Committee on Genetics, 2006). As a result of the availability of this technique, neonatal screening, which began with the Guthrie test for phenylketonuria, may now include biochemical analysis for indicators that the infant is at high risk for having conditions such as galactosemia and congenital adrenal hypoplasia, although the actual conditions for which testing is offered differ according to country or state (National Newborn Screening and Genetics Resource Center, 2010). Other conditions that are not tested using tandem mass spectrometry, such as cystic fibrosis, may also be included in newborn screening. As nurses will be discussing such screening with parents, it is essential that the concept of screening, as compared with diagnostic testing, is understood and that the nurse has information about the types of conditions associated with the screening tests and their potential impact on the life of the infant. There are complex ethical issues related to delivery of screening programs; for example, parents should be assisted to make antenatal screening choices with respect to their own values and beliefs (Skirton & Barr, 2009). Until recently, the antenatal diagnosis of genetic conditions has relied on the use of invasive tests (amniocentesis or chorionic villus biopsy) that carry an inherent risk of miscarriage (Tabor, Vestergaard & Lidegaard, 2009). However, newer methods using samples obtained from the maternal blood enable diagnoses to be made with less risk to the fetus. These tests rely on detection of cell-free fetal nucleic acid in the maternal blood and are already being used in limited contexts, for example, to detect the sex of the fetus when an X-linked condition is suspected (Wright, 2009). Paradoxically, it is possible that such methods will create new challenges for parents with respect to decision making, a challenge for which nurses need to be prepared (Norbury & Norbury, 2008; van den Heuvel et al., 2010).

Genetic testing has been used for many years to diagnose rare inherited disorders but is being used increasingly to determine the exact diagnosis and causation of some subgroups of common conditions. For example, a number of patients diagnosed with maturity onset diabetes of the young (usually diagnosed before 25 years of age) have been found to have diabetes caused by a mutation in the HNF1α gene (Ellard, Bellanne-Chantelot, & Hattersley, 2008). In these patients, the pancreas is capable of producing insulin, and sulphonylureas can be used effectively to treat the condition. If diagnostic testing is used to confirm that the affected patient has a mutation in this specific gene, insulin can be discontinued and the patient weaned onto oral hypoglycemics (Ellard et al.; Shepherd, 2006). This process may understandably cause anxiety in patients who have been insulin dependent for some years and will need nursing support, as well as education, to reinforce information about the genetic cause of the disease and the opportunity to change to oral therapy.

Where diagnostic testing is possible, presymptomatic testing of individuals at risk within a family can be used to provide the person with information about their genetic status, before signs and symptoms of an inherited condition for which they are at risk are evident (the term predictive testing is also sometimes used in this context, or may refer to testing for conditions that are expressed in only part of the population; Borry, Stultiens, Nys, Cassiman, & Dierick, 2006). Presymptomatic testing can be used to great advantage where screening would be helpful in detecting early signs and prevention of complications. For example, in families where sudden cardiac death has been experienced, it is natural that some members would wish to know their status in order to access screening and any available risk reduction treatments (if a mutation is present) or to lessen anxiety (if they have not inherited the mutation). As individuals at risk for some inherited arrhythmias are advised to cease competitive sports to reduce the chance of untoward cardiac events, knowing one's status may also indicate whether such measures are in fact necessary (Campuzano et al., 2010).

The information inherent in a presymptomatic test result may have long-term implications for the mental health of the patient. Deleterious mutation test results may, for example, result in hypervigilance about symptoms (Soltysiak, Gardiner, & Skirton, 2008), and such testing is usually accompanied by supportive nursing care to facilitate decision making and to help patients and their families make adjustments after the result is known. Feelings of genetic vulnerability may relate to fear of discrimination that could have an impact on self-esteem, personal relationships, employment, health care, and financial stability, and nurses should be aware that these fears may influence decisions about accessing presymptomatic testing for a genetic condition. In the United States, since the passage of the Genetics Information Nondiscrimination Act (GINA) in 2008, it is against the federal law for employers or those offering health insurance to discriminate against a person on the basis of their genetic status. GINA does not cover life insurance, disability insurance, and long-term care insurance, nor does it cover the Military Health Service, Indian Health Service, or U.S. Department of Veterans Affairs (Hudson, Holohan, & Collins, 2008). However, in countries where universal health care is funded via taxation (such as the United Kingdom), the fears around health insurance discrimination are less relevant, and therefore patients may feel able to make a decision on genetic testing without taking healthcare payment issues into account.

Direct-to-Consumer Genetic Testing

  1. Top of page
  2. Abstract
  3. Family History
  4. Genetic and Genomic Research and Nursing Education
  5. Genetic Testing: Expanded Use and Examples in Clinical Settings
  6. Direct-to-Consumer Genetic Testing
  7. Gene-Based Treatments and Interventions
  8. Nursing and Genomic Health Care
  9. Conclusions
  10. Clinical Resources
  11. References

It is now possible for individuals to arrange for some genetic tests directly, in many cases without the input of a health professional to offer individualized advice on the potential outcomes and implications. These tests may be used to identify if a person has genetic factors that contribute to the likelihood of developing a disease. This is sometimes referred to as having a genetic predisposition for the disorder (Genetic Home Reference, 2010). Direct to consumer (DTC) testing is legal in some countries, and because of the high accessibility of tests via the Internet is increasingly difficult to monitor (Wolfberg, 2006). Some tests relate to paternity or identification of ethnic background, which are of social interest, but others offer more health-related services to determine genetic predisposition to specific diseases. There are concerns that consumers may be offered tests of unproven clinical validity or clinical utility and may not have the information or support to make choices that are appropriate for their circumstances. In the United States, the International Society of Nurses in Genetics (ISONG), the American Society of Human Genetics (ASHG), and the National Society of Genetic Counselors (NSGC) issued guidance for practitioners along with recommendations for policy (Hudson, Javitt, Burke, Byers, with the ASHG Social Issues Committee, 2007; ISONG, 2009; NSGC, 2007), although other policies will apply in different countries. When nurses are involved in discussions with patients regarding whether to purchase such tests, issues that the nurse may explore include provision of material provided by the company about the scientific validity and clinical utility of the test, confidentiality of information, interpretation of the results, and what happens to the biospecimen when the analysis is complete. Consumers also need to be aware that they have a right to ask relevant questions, such as what would happen to their data should the company change ownership. In addition, there may be psychosocial considerations for the patient, such as how they will share the results of the tests with relevant family members and whether their insurance status may be either adversely or positively affected by the outcome.

Gene-Based Treatments and Interventions

  1. Top of page
  2. Abstract
  3. Family History
  4. Genetic and Genomic Research and Nursing Education
  5. Genetic Testing: Expanded Use and Examples in Clinical Settings
  6. Direct-to-Consumer Genetic Testing
  7. Gene-Based Treatments and Interventions
  8. Nursing and Genomic Health Care
  9. Conclusions
  10. Clinical Resources
  11. References

Pharmacogenomics

Nurses have a major role in pharmacotherapeutics, the monitoring of the safety and effects of medications, and that role is expanding rapidly as advanced practice nurses gain prescriptive authority. The burgeoning field of pharmacogenomics is elucidating the genetic-genomic bases of the individual variations in response to drug therapies and revealing metabolic pathways that affect drug efficacy and toxicity, and drug interactions. This science uses knowledge of polymorphisms or other genetically controlled variations in drug responsiveness to determine the optimal drug and dosage to minimize adverse reactions in individual patients. Pharmacogenomics will be an important aspect of personalized health care of the future (National Institutes of Health, 2009).

The best known genetic variants affecting drug response are on the cytochrome P450 (CYP) genes. Anticoagulants, anticonvulsants, antidepressants, beta-blockers, calcium channel blockers, and analgesics are some of the drugs that are metabolized in the liver by the enzymes of the CYP system. Tests for variants of some CYP genes are commercially available and in current clinical use. For example, certain polymorphisms of CYP2C19 predict patients with poor ability to metabolize Plavix (BristoMyers Squibb, New York, NY; Mega et al., 2009), and using this knowledge to adjust dosing can reduce the risk for adverse drug reactions. Some CYP genetic testing is available as DTC tests. As with all DTC genetic tests, there are considerations that the nurse must be aware of in order to properly inform and counsel patients. Whether DTC or from a clinical laboratory, these tests do not detect all the known variants, and the absence of an analyzed variant does not rule out the possibility of an adverse drug reaction. Also, drug metabolism is affected by factors other than genetic makeup, so prescription and monitoring decisions should consider those environmental and biologic factors and drug interactions.

Cancer therapy is changing rapidly due to advances in pharmacogenomics. All cancers involve some type of abnormal gene function, such as inherited or acquired mutations in tumor suppressor genes, activation of proto-oncogenes, or alterations in cell signaling pathways. Whereas traditional cancer chemotherapy utilizes drugs that destroy healthy cells along with malignant ones, newer therapies target proteins associated with specific tumors. In addition to other applications of pharmacogenomics, which target the products of the patient's genes, cancer pharmacogenomics also targets the products of the tumor gene. Well-known examples include trastuzumab (Herceptin, GenenTech Inc., South San Francisco, CA), a monoclonal antibody effective in the treatment of breast tumors that overexpress the protein product of the human epidermal growth factor receptor 2 gene, and imatinibmesylate (Gleevec, Novartis, Wayne, NJ), which blocks the signal from an abnormal protein that causes the accumulation of abnormal white blood cells in patients with chronic myeloid leukemia. The recently developed GDC-0449 is efficacious in the treatment of metastatic basal cell carcinoma (Von Hoff et al., 2009). This drug inhibits the hedgehog signaling pathway that regulates cell growth and differentiation during early development. Components of the hedgehog signaling pathway are normally repressed in adult cells but appear to become reactivated in a wide range of cancers, so this new class of therapeutic agents may have far-reaching implications in oncology. Counseling patients about genetically targeted cancer treatments is challenging due to limited long-term safety and efficacy data, and due to the fact that availability may be limited to those enrolled in clinical trials or with particular insurance or financial resources.

Genetic-Genomic Guided Therapies

One's genotype can also guide decisions about risk management strategies for inherited conditions. For example, arrhythmogenic right ventricular cardiomyopathy (ARVC) and congenital long QT (LQT) syndrome cause sudden death due to altered electrical conductivity of the heart muscle (Roden, Kannankeril & Darbar, 2009). Genetic tests for mutations associated with ARVC and LQT are available, and persons found to be at risk can be treated prophylactically with antiarrhythmics, beta-blockers, angiotensin-converting enzyme inhibitors, or other medications. In some cases, asymptomatic family members of persons with these conditions are tested through presymptomatic testing for the mutations and placed on drug therapy. This raises issues about family dynamics, such as the desire to disclose or not disclose an illness, and potential concerns about insurance, employment, or societal or family discrimination for persons found to carry disease-related gene mutations that may or may not put them at risk.

Rapid progress in pharmacotherapeutics is something that nurse educators have been faced with for more than a century. New genetic-genomic guided therapies pose the same issues that antibiotics once did; that is, they challenge our current ways of thinking about patient care. Nurse educators will continue to guide students toward promoting patient adaptation through interpretation of the genetic-genomic information, not just knowing about the technology and itsapplications.

Gene Therapy

Gene therapy, the process of inserting a healthy gene to replace a function that is missing because of a faulty gene, surfaced in the 1980s with the advent of the Human Genome Project. The first success came in 1990, when a child with a severe immune disorder was successfully treated for adenosine deaminase deficiency (ADA) by insertion of genes that produce ADA into her white blood cells. Gene therapy trials abounded in the 1990s, but suffered many setbacks due to adverse reactions to the viral vectors used to get the gene into the cell or secondary cancer related to where the added gene inserted itself in the genome. Gene therapy techniques that did not result in genome integration of the administered genes did not sustain patient improvement (Rans & England, 2009). Nevertheless, there have been a number of recent successes. For example, a promising therapy has been described for Leber's congenital amaurosis (LCA), an inherited retinal dystrophy that causes profound visual impairment or blindness at birth due to degeneration of the rods and cones. In patients whose LCA is caused by a mutation in the RPE65 gene, insertion of the nonmutated gene using an adenovirus vector resulted in some improvement in vision (Maguire et al., 2008). Ongoing research efforts continue to raise hope that human gene therapy will become a standard treatment option.

If gene therapy becomes safer and more practical, nurse educators must emphasize its broad implications. When considering decisions regarding gene therapy, patients will need to weigh the potential of a cure with risks such as immune responses, damage to other healthy cells, and initiation of carcinogenesis. A nursing educational framework that focuses on genetic-genomic vulnerability goes far beyond examination of those physiologic risks. This framework considers the experiences and values of the individual and family that affect decision making about treatment, the issues that complicate informed consent, the questions that may be raised about future reproduction and family dynamics, the fears that accompany novel treatments, and the consequences such as guilt or uncertainty related to revised standards for what is “normal.” A family-focused framework also acknowledges social justice concerns, since gene therapy is likely to be readily available only to a privileged minority who are fortunate enough to live in resource-rich countries.

Nursing and Genomic Health Care

  1. Top of page
  2. Abstract
  3. Family History
  4. Genetic and Genomic Research and Nursing Education
  5. Genetic Testing: Expanded Use and Examples in Clinical Settings
  6. Direct-to-Consumer Genetic Testing
  7. Gene-Based Treatments and Interventions
  8. Nursing and Genomic Health Care
  9. Conclusions
  10. Clinical Resources
  11. References

Nursing Competencies

In the United States (Consensus Panel on Genetic/Genomic Nursing Competencies, 2009) and in Europe (Skirton, Lewis, Kent, & Coviello, 2010), sets of core competencies in genetics and genomics have been established to guide nurses to develop the necessary skills, knowledge, and attitudes required to deliver safe and effective health care in the genomic era. Some of these, such as recognition of the importance of family history, support of individuals through a process of decision making with respect to a genetic test, and understanding of the implications of genetic testing, have already been highlighted in this paper. An important competency relates to effective communication within a multidisciplinary health service. The concept of genetic vulnerability proposed by Hamilton and Bowers (2007) is appropriate when applied to those individuals who have known for some time of the condition within the family. However, when a diagnosis is first made in a family, the experience of genetic vulnerability will be new to many members of the family, and additional support during a period of adjustment may be beneficial. Nursing interventions focused on information and psychological support may be useful during the potentially unsettling and potentially distressing period of time following the diagnosis, illness, or death of a relative with a genetic or genomic condition. The use of predisposition testing may heighten feelings of vulnerability in those whose actual risk is relatively low, and nurses will have a role in contextualizing the level of risk as well as educating patients in steps they may take to alter environmental influences on the development of common diseases. Clarification on the actual meaning of test results and potential implications for family members will also be needed by patients who have had a pharmacogenomic test. While it is not possible for all nurses to have a deep understanding of this rapidly changing field, an awareness of the potential for genetic/genomic science to contribute substantially to the care of patients and the skill to refer appropriate patients to the relevant professional are integral to nursing practice.

Genetic and Genomic Resources

Before the genome era, when patients and families were identified to be at risk for a genetic condition as a result of family history or newborn screening, they were referred to genetics professionals for further evaluation and counseling. Today, with the expanding role of genetics and genomics technology in health care, all nurses have an increasing role in the provision of genetic-genomic health care. Nurses will be collecting a three-generation family health history and constructing a pedigree to assess the risk for genetic conditions. They will also be collecting personal, health, and developmental histories that take into account the individual's genetic, environmental, and genomic influences and risks. They will conduct comprehensive physical assessments that also incorporate knowledge of genetic, environmental, and genomic influences and risk factors. Nurses graduating from baccalaureate schools in the United States that are accredited by the American Association of Colleges of Nursing (AACN) are currently expected to be able to use a genetic pedigree to identify risk and develop a plan of care (AACN, 2009). Based on these assessments, nurses will be able to identify individuals and families who may benefit from genetic education, counseling, and evaluation services, and facilitate referrals for these specialized genetic and genomic services (Consensus Panel on Genetic/Genomic Nursing Competencies, 2009). Nurses will support families and individuals as they consider decisions about reducing risk for disease and adapting to conditions that have a genetic component in their family. They can also explain to the patient and family what to expect during the genetic consultation. The GeneTests web site is a reliable resource for nurses to locate genetic consultation services in their area, as well as information about specific genetic disorders and genetic-genomic educational materials (GeneTests, 2010). The increasing availability of genetic testing, including DTC genetic testing, has caused many individuals to pursue genetic testing. They may turn to nurses to help answer their questions about the genetic tests and what the results mean for them and for their families.

Oncology nurses are an example of the contribution that nurses are making in the midst of the genetic and genomic science revolution (Calzone, Masny, & Jenkins, 2010). For example, the oncology nurse can explain what the results of hereditary breast/ovarian cancer tests are and what they mean to the individual, and provide information about genetic testing for tumor profiling to determine the specific treatment for that cancer. Tumor profiling involves testing the cancerous tumor for specific genetic changes. The genetic test results will indicate whether the patient will benefit from a particular cancer treatment (Roepman & Holstege, 2005).

Nurses are skilled at providing the information in a manner that is understandable to the patient and can tailor the information based on the patient's and family's culture and religion. Nurses also address any concerns the patient may have and provide psychological support and counseling to help families adapt to their disorder or risk (Skirton & Barnes, 2005).

Reliable Genetic and Genomic Information Services

Reliable genetic and genomic information and resources are available. One such resource, the Genetics-Genomics Competency Center for Education (2010), is an open source repository of peer-reviewed materials and resources for nursing and physician assistant educators. The materials and resources are mapped to the U.S. profession-specific competencies and outcome indicators. Two additional reliable resources for health professionals and the general public include Telling Stories, created by the National Genetics Education and Development Centre, United Kingdom (National Genetics Education and Development Centre, 2010) and the Genetic and Rare Diseases Information Center (GARD; National Human Genome Research Institute, 2010b).

Telling Stories is a web site that was created for healthcare professionals to promote their understanding of the influence of genetics/genomics on individuals and families lives and its relevance to healthcare practice. The web site presents stories on a range of rare single-gene and chromosomal disorders, and common, multifactorial diseases such as heart disease and cancer. GARD is a reliable resource staffed by experienced information specialists who can respond to questions from the general public, including patients and their families, healthcare professionals, and biomedical researchers, in both English and Spanish (National Human Genome Research Institute, 2010a). Another paper in this series will focus in more detail on genetic and genomic resources for nurse educators and their students.

Conclusions

  1. Top of page
  2. Abstract
  3. Family History
  4. Genetic and Genomic Research and Nursing Education
  5. Genetic Testing: Expanded Use and Examples in Clinical Settings
  6. Direct-to-Consumer Genetic Testing
  7. Gene-Based Treatments and Interventions
  8. Nursing and Genomic Health Care
  9. Conclusions
  10. Clinical Resources
  11. References

The role of nurse educators is to prepare students for the emerging genetic and genomic technologies that are used for risk identification and risk reduction, as well as the diagnosis and treatment of disease. This includes educating students about both the major advances in genetic and genomic technology and their applications to health care, as well as the many challenges that lie ahead. This preparation extends far beyond the science and technology, and addresses the issues that promote patient adaptation to, as well as personal and clinical decisions emerging from, genetics and genomics. Education for nurses includes a focus on interpretation and impact of the genetic-genomic information, and considers individual and family value systems, personal experiences, risk perception, decision consequences, and available resources.

References

  1. Top of page
  2. Abstract
  3. Family History
  4. Genetic and Genomic Research and Nursing Education
  5. Genetic Testing: Expanded Use and Examples in Clinical Settings
  6. Direct-to-Consumer Genetic Testing
  7. Gene-Based Treatments and Interventions
  8. Nursing and Genomic Health Care
  9. Conclusions
  10. Clinical Resources
  11. References
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