Genomics refers to the study of the assembly, organization, role, and evolution of an organism’s genome. Genetic research, particularly the Human Genome Project, has revealed a lot about the genetic mechanisms of common diseases like diabetes, stroke, and cancers. It has also generated “new gene-based technologies” for disease diagnosis and therapy (Cheek, Bashore, & Brazeau, 2015, p. 497). This new course in healthcare requires all nurses to interpret the genetic and genomic data for patients with an understanding of the associated ethical concerns. Nursing interventions grounded in genetic research findings can help address emerging health challenges and advance community health.
The Current Trends in Genomic Research
Advanced molecular biology techniques such As Situ Hybridization technology, PCR, microarrays, Nanotechnology, and the Next Generation Sequencing have simplified the process of gene sequencing and characterization and spurred genomic development. Historically, clinical research sought to unravel the genetic causes of rare hereditary conditions. In recent years, advances in genomic research fueled by the human genome project have enhanced our understanding of the impact of genetic-environment interactions on health.
Genomics has transformed the nature of care delivery with the emergence of precision or personalized medicine that aims “to characterize or individualize care for human disease” (Cheek, Bashore, & Brazeau, 2015, p. 497). Thus, health practitioners have started to drift away from the trial and error prescription approach to precise diagnosis and management of common and rare diseases. For instance, many therapeutic agents for mental disorders employ the CYP450 system. These drugs act either as “substrates, inhibitors, inducers, or a combination of CYP450, especially CYP 2D6 enzyme subtype” (Lea, Cheek, Brazeau, & Brazeau, 2015, p. 16 ). Nurses use the Roche Amplichip CYP450 Test to identify CYP2D6 alleles aiding them to fit the best pharmacological treatment to the particular patient. Building on the insight gained through the identification of the genome sequence, current research to characterize and categorize human genetic variation through technological advancement, has contributed considerably to the understanding of the role genomics plays in disease etiology.
The Role of Nurses in Genetic and Genomic-based Health Care
Genetic and genomic research has given rise to new areas of nurses’ involvement in the informed decision-making process. Patients often access the huge genetic data coming from genomic projects, making them knowledgeable about critical issues such as genetic testing. Thus, nurses’ participation in discussing these matters with the patients during the process of informed decision and procuring consent is essential.
Genetic testing to screen, diagnose, and define the best treatment of diseases is another process that requires the nurses’ participation. Historically, obstetric and pediatric nurses participated in “prenatal screening for genetic conditions such as Downs syndrome and Phenylketonuria (PKU)” (Junglen, Pestka, Clawson, & Fisher, 2008, p. 639). However, in recent years, screening for common cancers entails genetic testing to identify potentially mutagenic factors in the oncogenes. In this case, the nurse’s role is to educate patients on the benefits versus the risks of genetic tests to foster informed decision-making.
An important implication of Pharmacogenomics for bedside nurses and advanced practice nursing (APN) is the ability to reduce adverse drug reactions (ADRs) and guarantee optimal patient outcomes. An example is the ADR witnessed with “the HLA-B*1502 genotype strongly linked to toxic epidermal necrosis in patients of Asian origin with the anticonvulsant carbamazepine” (Feethom, Thomson, & Hinshaw, 2005, p. 103). Genetic testing can detect this allele. Nurses are, therefore, required to assess allelic variations when exploring drug-metabolizing enzyme profiles as they have a significant effect on drug compliance, tolerance, and response. In addition, nurses need the expertise to educate their clients about specific phenotypes of CYP450, their risks of toxicities, and the poor drug response caused by drug-drug interactions or differential biotransformation.
Genetics and genomics have transformed the environment of pediatric oncology, especially for acute Lymphoblastic leukemia (ALL). Lea (2008) gives an example of the enzyme Thiopurine s-Methyltransferase (TPMT) that is linked to the “metabolism of 6-Mercaptopurine” and could lead to lethal toxicities after the breakdown of the drug (p. 603). With genetic and genomic testing, it is now possible for nurses to gauge the TPMT status of their patients and to administer accurate doses of 6-MP in pediatric ALL patients avoiding unnecessary toxicities. This approach has borne major consequences on the relative incidence of the disease and mortality of children under treatment for pediatric malignancies.
Tandem Mass Spectrometry, a technology for newborn screening allows “testing of more than 24 different genetic disorders using one-sample test” (Badzek, Turner, & Jenkins, 2008). Genetic screening, unlike clinical tests, reveals the family factors that predispose individuals to particular hereditary disorders. For instance, a diagnosis of PKU made in an infant “means that the child’s parents are carriers and that they have a 25% probability of bearing a child with PKU” (Badzek, Turner, & Jenkins, 2008, p. 394).
Nurses also play a role in conducting genetic and genomic testing. Population-based techniques, such as GWAS studies, help delineate the genetic haplotypes specific to a particular family or population. Due to the importance of these studies, sharing the data emanating from research is vital. However, patient data privacy must be ensured when sharing sensitive genetic information. Nurses, as the primary caregivers, are well-placed to advise potential participants on the ethical issues inherent in genomic research.
In addition, the sensitive nature of the data generated from genomic projects raises ethical and legal concerns that need to be addressed. Thus, there is a requirement for nurses to acquaint themselves with the nature and sources of genetic data and health informatics for them to guarantee privacy and secrecy to their patients. There are concerns that genetic information may be used to “deny or limit insurance coverage or to determine who is hired or fired” (Junglen et al., 2008, p. 644). In the USA, for instance, nurses are required to know and champion the implementation of the “Genetic Information Nondiscrimination Act (GINA), which prohibits improper use of genetic data in insurance and employment decisions” (Junglen et al., 2008, p. 644). In this view, there is a necessity for nurses to be involved in the ethical supervision of genetic information to ensure that they professionally share patient genetic information and to shield clients and their families from potential discriminatory practices.
The other challenge that has come with genomics is how to overcome barriers to accessing gene-based diagnostics and therapeutics for the public globally, given the profound financial and technological disparities between nations. Nurses are again called upon to work to ensure that the general public has access to quality genomic healthcare services by educating the general population about pertinent genomic health concerns and amenities.
Health Experts Reaction to Genomic Discovery
There have been collaborations between some professional bodies to assist health practitioners in understanding and using genomic discoveries in inpatient care in daily practice. The group consists of the “National Institute of Health (NIH), Center for Disease Control (CDC), and the International Society of Nurses in Genetics (ISONG)”, among others (Feethom, Thomson, & Hinshaw, 2005, p. 107). The efforts of these groups have been directed towards ensuring that nurses are equipped to deliver competent nursing attention when faced with genetic and genomic healthcare challenges, develop resources to advance nursing competency, promote genetics education for health professionals, and provide training for nurses on current and emerging ethical issues related to genomic healthcare.
The formulation and implementation of essential competencies in genetics and genomics by nurses globally provides a base that supports the increasing role of nurses in health care. Therefore, nurses are encouraged to integrate these competencies into nursing education, healthcare, and research.
The outcomes of the human genome project, the International HapMap Project, and the ongoing extensive genomic research have resulted in the growth of genomic insight that is available to be integrated into healthcare provision. Nurses are directly impacted by these discoveries since they are the ones responsible for providing quality care to patients, administering drugs, monitoring drug efficacy and toxicity, and assessing the patient’s overall response to therapy. In addition, the incorporation of genetic and genomic knowledge into nursing practice brings with it the ghost of ethical, legal, and religious concerns that dogs genetic research. Thus, modern nurses have an added responsibility of upholding competency in understanding genomics and how the information influences their daily practice.
Badzek, L., Turner, M., & Jenkins, J. (2008). Genomics and Nursing Practice: Advancing the Nursing Profession. OJIN: The Online Journal of Issues in Nursing, Vol. 13(1), 391-403.
Cheek, D., Bashore, L., & Brazeau, D. (2015). Clinical Scholarship: Pharmacogenomics and Implications for Nursing Practice. Journal of Nursing Scholarship, 11(1), 496-502.
Feethom, S., Thomson, E., & Hinshaw, A. (2005). Nursing Leadership in Genomics for Health and Society. Journal of Nursing Scholarship, 37, 102-110.
Junglen, L., Pestka, E., Clawson, M., & Fisher, S. (2008). Incorporating Genetics and Genomics into Nursing Practice: A Demonstration. OJIN: The Online Journal of Issues in Nursing, 13(3), 638-655.
Lea, D. (2008). Genetic and Genomic Healthcare: Ethical Issues of Importance to Nurses. OJIN: The Online Journal of Issues in Nursing, 13(1), 601-614.
Lea, D., Cheek, D., Brazeau, D., & Brazeau, G. (2015). Genetic Mapping: Genome Wide Association Studies. Indianapolis, IN: Sigma Theta Tau International.