Introduction
Healthcare nowadays relies on the ongoing work seeking to unravel the genetical basis of various diseases and responses to treatments. The advancements in genomics and genetics cut across the entire healthcare spectrum and involves all healthcare professionals including nursing professionals. The majority of diseases, health conditions and illnesses, as well as the associated therapies, have a genetic or genomic underpinning that is influenced by either lifestyle and environmental or other factors, and as such, impacting the entire nursing profession (Calzone, Cashion & Wung, 2010).
In line with this, nurses are expected to develop an intimate relationship with patients’ community and family perspectives, and understand the biological causes of diseases. In addition, nurses are supposed to have an understanding of genomics and genetics technologies and information, as well as communication and coalition building skills, not to forget the championship of the public’s trust (Calzone, Cashion & Wung, 2010). In the course of their profession, nurses champion health promotion, as well as disease prevention, which are pivotal components of genomic healthcare practices (Calzone, Cashion & Wung, 2010). Additionally, the recognition of the notion that prevention is the hallmark of genomics/genetics healthcare, plays a crucial role in the policy making processes, particularly the generation of policies that target genomics/genetics healthcare (Calzone, Cashion & Wung, 2010). Therefore, nurses must have a deep understanding of the role of genomics/genetics in healthcare.
Common Terminologies
Genetic Predisposition: denotes a genetic factor that alters/changes a person’s chance of developing the disease in their lifetime (Greco, Tinley & Seibert, 2011).
Genetic Marker: Refers to a gene or DNA whose location on the associated chromosome is known, and can be used in the identification of species/individuals/genetic conditions (Greco, Tinley & Seibert, 2011).
Genetics: denotes the study of a person’s genes and their associated impact on single gene disorders (Greco, Tinley & Seibert, 2011).
Genetic Testing: Refers to a collection of various laboratory tests that are employed in the diagnosis of genetic diseases (Greco, Tinley & Seibert, 2011).
Genotype: Refers to an individual’s collection of genes. This aspect is traceable to the individual’s unique characteristics (Greco, Tinley & Seibert, 2011).
Genomics: refers to the study of all or a subset of genes in the human genome, and how they interact with each other, social, psychological and environmental factors (Greco, Tinley & Seibert, 2011).
Pedigree: refers to a graphical illustration of a family’s health history that uses standardized symbols (Greco, Tinley & Seibert, 2011).
Pharmacogenomics: refers to the study of genetic variations in response to drugs (Greco, Tinley & Seibert, 2011).
Pharmacogenetics: the study of allelic differences of singe genes associated and individual’s variability in drug response (Greco, Tinley & Seibert, 2011).
Application of genetics/genomics in nursing
The nursing profession is an integral part in the realm of healthcare provision. Nursing narrows the gap between research discoveries and advancements that are efficacious in health care provision, as well as their successful adoption to optimize health.
If people have to realize the widespread benefits of genomic/genetic discoveries, nurses ought to have the competency of generating familial histories, identifying family members who might be at risk of developing a genetic disease, as well as drug-genomic interactions (Greco, Tinley & Seibert, 2011). These competencies are essential in understanding genomic tests and test results and therapies, and refer susceptible persons to the appropriate medical intervention. It is essential to note that in the US, the top ten causes of mortalities have a genetic underpinning. At the center of these causes are cancers, cardiovascular diseases, and diabetes among others. These conditions have a chronic nature, which puts nurses at the center stage of their management.
In the US, over 106,000 people succumb to the adverse effects of drugs prescribed and administered correctly, and close to 2 million people encounter serious, but not life-threatening effects (Greco, Tinley & Seibert, 2011). In the nursing, advanced practice nursing have the authority to prescribe medications while their colleagues at the other levels take part in the dispensation of those drugs, as well as the provision of education, and supervision of patients under medication (Greco, Tinley & Seibert, 2011). Nurses act as the first line of defense in the prevention of adverse drug reactions/effects.
Among individuals aged 65 years and above, warfarin related side effects are common. In this case, side effects are dose related and led to hospitalization (Greco, Tinley & Seibert, 2011). The individual’s genetic markers play a pivotal role in the determination of warfarin dose requirements and effects. Thus, translating information on genetic markers into clinical practice, in which nurses are involved in the administration and monitoring of warfarin among patients, can play a significant role in the reduction of life-threatening hemorrhage or thrombosis associated with dosage as a result of the individual’s response that is governed by their genetic make-up.
Although there is a large body of knowledge highlighting the contribution of genetics and genomics on health and illnesses, there is limited evidence tailored to the effects of genomically/genetically competent nursing practice, as well as the effect on the public’s health. This phenomenon is present in the wake of the realization that individual anecdotes suggest that the transformation of healthcare can be achieved by genetically competent nurses. In other words, nurses’ genetic know-how including the skill of identifying and assessing familial genetic histories is beneficial in helping people avert adult onset of genetic disorders, as well as reduce morbidity and mortality.
Current statistics suggests that close to 180,000 cases of breast cancer are diagnosed on an annual basis (Greco, Tinley & Seibert, 2011). Up to 10 percent have an inherited susceptibility to the disease. Let as examine one example (Greco, Tinley & Seibert, 2011). A nurse case manager, as part of a new patient multidisciplinary consultation, took a brief family pedigree of a woman in order to identify any information consistent with an inherited susceptibility to cancer. Amazingly, the nurse revealed a paternal family history of early onset of breast cancer and her ethnic heritage. Both factors influence a patient’s risk of having a mutation in breast cancer susceptibility gene. Consequently, the nurse advised the patient to seek expert advice and thus referred her to cancer genetic specialist. After expert analysis, it was found that the patient had BRCA1 and BRCA2 which are dominant in the patient’s ethnic group. The pathological tests revealed that she had pre-cancerous cells. Following the revelation of this data, the patient’s ovaries were removed to minimize the risk of developing ovarian cancer, as well as reduce the expenses that would otherwise burden her should the cancer develop. It is clear from this example that the nurse who took the responsibility of investigating the client’s genetic predisposition to breast cancer played a crucial role in preventing a future morbidity and mortality of breast cancer.
In addition, annually, up to 250 000 people encounter a sudden cardiac death in the United States (Greco, Tinley & Seibert, 2011). It is, therefore, important that nurses are knowledgeable with respect to cardiac health genomics. In this example, a cardiovascular advanced practice nurse conducted an echocardiogram on a patient who had revealed that his family members had succumbed to sudden heart attack. The APN documented the patient’s family history with respect to the development of heart attacks and shared the information with her immediate cardiologist. In the subsequent years, the APN researched and collected detailed multiple generation family histories that involved members of that family located in different counties and states. The nurse discovered that many of them died at an early age; they had a low life expectancy. In addition, the family took part in a study that led to the identification of the gene and disease specific mutation. A woman drawn from the family in question was invited to a genetic testing in a genetic nursing conference where she described the benefits of undergoing genetic testing.
In her speech, the woman noted that upon realizing that she had the family gene mutation that is associated with sudden cardiac death, she made a point of seeking expert advice, and booked an appointment with their family cardiologist. Following examination by the cardiologist, it was found necessary to implant a cardioverter defibrillator (ICD); in addition, she had two oblation surgeries for atrial fibrillation. At the time she was giving her speech, she revealed that she was expecting her first child. Furthermore, she explained that it because of the guidance and monitoring of an APN and education of healthcare professionals who took part in her pre-natal acre that she had succeeded in carrying a pregnancy. Again, in this family, an APN had prevented premature deaths of many at-risk family members by not only listening to, but also further investigating a family history over ten years. It is essential to note that in pre-natal and pre-conception settings, nurses have the opportunity to assist families prepare for a child with a genetic condition.
Furthermore, congenital malformations are the chief cause of infant deaths in US. In this example, a woman recalls her last two ordeals in which she lost her two children because of a chromosome disorder. When she was thirty and pregnant with her first child, she received a call from the obstetricians office that her genetic screen was abnormal. This development promoted the doctor to conduct a series of amniocenteses, and it was revealed that her developing baby had Edwards Syndrome. Determined to have her first child, the woman decided to continue with the pregnancy. She notes that after the birth of her daughter, nurses and physicians in the hospital were unsupportive.
Even after her discharge there was no follow-up form the hospital, and she admits that she felt abandoned by the healthcare system. The only health professional she had contacts with was the hospital’s pediatrician who in her 20 years of practice had never nursed as an infant with Edward’s Syndrome. The child did not live long. Ten years later, she had another pregnancy and the results were not good either. The male fetus she was carrying had Patau syndrome. This time round, she was referred to a pediatric hospice service. The nurse in charge made sure that all her colleagues (labor, delivery and post-natal staffs) were knowledgeable about Patau syndrome. The nurse maintained contact with the expectant woman until the birth of her son. Unfortunately, the infant’s life lasted for only 13 months.
- Advocate for the rights of their clients for free, informed genomic and genetic related decision making;
- Incorporate genomic and genetic technologies in their practice;
- Support their cleats’ access to genetic and genomic services are resources.
- Recognize attitudes that they hold with respect to genomics and genetics which are likely to hinder the care they provide to their clients who have genetic disorders;
A competent registered nurse must provide efficient nursing assessment that allows for the integration, as well as application of genomic and genetic knowledge (Lea, 2008). In other words, the nurse provides education, support, care, and referral activities to patients with genetic disorders. In order to execute these tasks, nurses must therefore be conversant with the relationship between genetics/genomics and health, as well as prognostic, screening, prevention, diagnostic procedures and the selection of treatments associated with genetic/genomic disorders (Lea, 2008). Nurses must be able to generate 3D family health histories of their patients, as well as design a pedigree from collected familial history (Feetham & William, 2004).
Above all, nurses must have the competency of collecting developmental, health and personal histories which take into consideration genomic and genetic risks (Feetham & William, 2004). Such competencies give the nurse in question a rich analytical scale in the assessment of the findings of his or her probation. In addition, competent nurses must have the know-how of evaluating their patients’ knowledge and perceptions, as well as responses to genetic/genomic information (Collins, Green, Guttmacher, & Guyer, 2003). This skill helps them develop a comprehensive care plan that takes into consideration their patients genetic elements (Collins et al., 2003). If the patient requires specialized genetic services, a nurse in question must know the correct referral program that the client needs to seek. In other words, such a nurse can identify patients who need specific genetic or genomic information, understand factors that might hinder a patient’s comprehension of genetic data, as well as the ethical, legal and safety issues that must be addressed (Lewis, 2012). In line with this, competent nurses must work hand in hand with other healthcare professionals in the generation of a genetically clear picture of their patients.
Ethical, Legal, and Safety Issues
Ethics determine whether an activity is right or wrong. In using, nurses are guided by a code of ethics. At times, non-adherence to the code of ethics could cause legal drama in which nurses are prosecuted for failure to observe their code of ethics. Additionally, safety standards are paramount in any clinical practice. Therefore, nurses must be conversant with the safety, legal and ethical requirements when dealing with patients who have a genetic/genomic disorder.
According to the Nursing Code of Ethics, nurse must provide equal healthcare to all patients irrespective of their political, religious, racial and social background. The code of ethics protects the safety, rights and privacy of all patients. In practice, nurses may face ethical or legal dilemmas. For instance, an ethical dilemma may arise with respect to which individuals should undergo a genetic test or receive genetic information. Therefore, necessary guidelines should be enacted in order to define, understand and manage ethical, legal and safety issues that may arise when translating genetics/genomics in the healthcare environment.
Conclusion
In summary, genetic discoveries are continuously improving healthcare professionals’ ability to detect disease susceptibility. Nurses must be ready to assume clinical, as well as leadership roles in translating genomic and genetic advances in effective healthcare.
References
Calzone, K., Cashion, A., & Wung, S. (2010). Nurses Transforming Healthcare using genetics and Genomics. Nurses Outlook, 58(1), 26-25.
Collins, F., Green, E., Guttmacher, A., & Guyer, M. (2003). A vision for the future of genomic research. Nature, 422, 835–847
Feetham, S., William, K. (2004). Nursing and Genetics: Leadership for Global Health. Geneva: International Council of Nurses.
Greco, E., Tinley, s., & Seibert, S. (2011). Essential Genetic and Genomic Competencies for Nurses with Graduate Degrees. American Nurses Association.
Lea, D. (2008). "Genetic and Genomic Healthcare: Ethical Issues of Importance to Nurses". The Online Journal of Issues in Nursing, 13, 1-10.
Lewis, R. (2012). Human Genetics Concepts and Applications. New York, NY: McGraw-Hill.
