Role of Genomics Educated Nurses


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Evidence Based Practice Paper on Genetics Role in Health Care of Patients

Minimol Shebeen

American Sentinel University

Evidence Based Practice Paper on Genetics Role in Health Care of Patients

Evidence-based practice (EBP) is the incorporation of clinical skill, patient advantages and the best research evidence into the decision-making process for patient care. Clinical expertness relates to the clinician’s gathered knowledge, education and clinical abilities. The patient brings to the encounter his or her own personal likings and unique concerns, hopes and values. The finest research verification is normally established in clinically significant research that has been organized using sound methodology. (Duke University Medical Center Library, 2013). The majority of diseases jeopardizes, health situation and the remedies used to treat those conditions has a genetic element impacted by lifestyle, environmental and other factors, and therefore affecting the whole nursing profession. Nurses have intimate knowledge of the patient’s, family’s, about community’s perspectives and an understanding of biological supports. Nurses also have experience with genomic technologies and information along with skills in communication and building coalitions and most importantly, the public’s trust. Nurses are well positioned to incorporate genetic and genomic information across all aspects of the United States health care system. Nurses, the most trusted health professionals, make unique contributions to the field of human genetics and genomics and complement the work of other health care providers to improve the health of the public (Calzone et al., 2010). This paper looks into the role of genomics educated nurses in saving lives and improving health care quality.

Genetic Engineering

According to The Columbia Electronic Encyclopedia (2013), genetic engineering is the use of different methods to engineer the genetic material of cells to change hereditary features to produce biological products. Various techniques are used, including

Use of hybrids of quickly proliferating cancer cells and cells that make a needed antibody to make monoclonal antibodies
Polymerase chain reaction in which complete copies of Deoxyribonucleic acid (DNA) fractions are made and used in DNA fingerprinting.
Gene splicing, in which DNA of a wanted gene is inserted into a DNA of a bacterium which then reproduces itself producing more of the wanted gene.

Genetically engineered outputs include bacteria intended to break down industrial waste products and oil slicks, drugs like human insulin, human and bovine growth hormones and interferon. It may also degrade plants that are resistant to insects, diseases and herbicides, that yield fruit or vegetables with desired qualities, or produce toxins that act as pesticides. Genetic engineering methods have also been used in the direct gene conversion of livestock and laboratory animals (The Columbia Electronic Encyclopedia, 2013).

Legal and Ethical Issues

According to Lea (2008), genetics have developed to include the effect of a person’s entire genome, environmental elements and their joint effects on health. This growth is creating new, gene-based technologies for the preview, diagnosis, prevention and treatment of both uncommon and common diseases, such as cancer, heart disease, diabetes and stroke. New genomic breakthroughs and their implementations bring great expectation for a more personalized appeal to treat disease. While these new indications raise expectations for disease prevention and treatment, they also bring hard ethical issues to patients and healthcare providers in a similar way. Some of the ethical challenges for nurses are

Privacy and Confidentiality
Who shall have reach to genetic data? Who owns and commands it?
How can families settle differences when some members want to be tested for a genetic disturbance, and others do not?
Should managements be able to need job appliers to take genetic tests as a requirement of employment?
Unbiased Access to Genomic Technologies
Resource-poor countries, the uninsured, rural and inner-city communities – how might genomic science and treatments be made available to those with fewer reserves?
Rare genetic conditions – who will invest the progress of treatments for genetic disorders that affect a comparatively small number of people?
Influence of Genetic Data
How does a person’s genetic data influence that individual and society’s feeling of that individual?
How do genes and genomic facts affect fellows of minority populations?

According to National Human Genome Research Institute (2007), certain ethical, legal and social issues research areas identified as the main challenges for the future of genomic research:

Intellectual property issues surrounding the approach to and use of genetic knowledge
Ethical, legal and social factors that impact the interpretation of genetic data to improved health
Problems surrounding the manners of genetic research
Issues surrounding the use of genetic knowledge and technologies in non-health care backgrounds
The impact of genomics on notions of race, kinship, ethnicity and individual and group identity
The associations for both individuals and society of unveiling genomic inputs to human features and conducts
How different individuals, cultures and religious practices view the ethical boundaries for the uses of genomics

Mandatory Screening

Newborn screening is a growing use of genetic examination. A technology called Tandem Mass Spectrometry is now being used by many state newborn screening programs, permitting screening for more than 24 distinctive genetic disorders using one easy test. This widened newborn screening raises new issues about well-informed decision making. As illustrated by the American Academy of Pediatrics, genetic testing varies from other types of medical testing in that it provides information about the family. For example, a diagnosis of Phenylketonuria (PKU) made in an infant through newborn screening means that the infant’s parents are carriers, and that they have a 25 percent chance with each future pregnancy for having another child with PKU. Each of the parents’ siblings has a 50 percent chance to be transporters. Thus, the screening results may have related social, psychological and financial risks. Parents who are carriers may have psychological risks which may comprise parental responsibility. A child diagnosed with a genetic condition may face descended identity and risk insurance and employment unequal treatment. At present, most states have mandatory newborn screening agendas that require all infants to be screened unless the parents deny. This is called informed dissent, with least information supplied to parents. An informed consent process, on the other hand, would include talk with the parents about the risks, restrictions and benefits of newborn screening before consenting to the testing. Having an informed consent procedure for newborn screening has the attitude for faster and efficient responses to positive outcomes. The American Academy of Pediatrics has recommended that pediatric providers give parents the needed data and counseling regarding the risks, benefits, and limitations of newborn screening, and that they cooperate with genetics professionals and prenatal care providers in providing this difficult information to the parents. There are currently two states that require informed consent for newborn screening, Maryland and Wyoming. Thirteen other states need that parents are well-informed about the newborn screening ahead the testing is done on their infant. All but one state, South Dakota, permit parental rejection of newborn screening for religious or personal reasons (Lea, 2008).

Healthcare Providers Role in Gene Therapy

The nursing profession is a crucial contributor of the finest health care services and is key to ending the gap between research breakthroughs that are effective for health care and their affluent adoption to optimize health. Every year, over 106,000 people in the United States will die from adverse effects from medicaments ordered and dispensed in correct dosages, and over two million will bear grave but not life-threatening toxicities. Among individuals 65 years of age or older, 17.3 percent of adverse drug event related emergency department visits were connected with warfarin, the majority of, which were dose-related with 44.2 percent needing hospitalization. Individual genetic markers are among the causes that add to the decision of warfarin dose conditions. A strong nursing element, can decrease the extent of life-threatening hemorrhage or sub-therapeutic dosing that can result in thrombosis as an outcome of individual responses regulated by genetic structure. Despite an expanding body of evidence with the addition of genetics and genomics to health or illness, the proof specific to results of genetically competent nursing practice and the effect on the public’s health is very insufficient. However, individual stories point to the possibility for changing health care by the genomically competent nurse (Calzone et al., 2010).

A nurse who is informed about genetics and trained at acquiring and reviewing risk in a family history have the possibility to help people avert adult-onset disorders and resulting morbidity and mortality. More than 180,000 new cases of breast cancer are identified yearly, of which approximately 5 to 10 percent will have an inherited vulnerability to the disease. A nurse case manager took a brief family pedigree of a woman to recognize any information persistent with an inherited vulnerability to cancer. The nurse recognized a paternal family history of early-onset breast cancer and her ethnic legacy, Ashkenazi Jewish, together induced her risk of having a mutation in a breast cancer vulnerability gene. The nurse directed this woman to a cancer genetics professional. The proof points to not only a reduction in morbidity and possible mortality, but also to a health care saving of hundreds of dollars per life year as an outcome of the nurse’s activity (Calzone et al., 2010).

Annually, about 180,000 to 250,000 people in the United States will bear a sudden cardiac death. The nurses informed in genetics can aid people prevent sudden cardiac death. A cardiac echocardiogram was carried out by a cardiovascular advanced practice nurse (APN) on a patient who told the story about many family members who had died unexpectedly from a heart attack. Attracted, the APN obtained a family history and shared it with one of the cardiologists. Over a few years, the APN collected a broad many generation family history that comprised members situated in many states and many countries and found that many had died in their teens and early adult years. The family took part in a research study and final the gene and disease specific mutations were recognized. The women later arranged her appointment with a cardiologist. Over an eight-year period, she had an implantable cardioverter defibrillator placed, which cardioverted her on two different instances, proceeded by two ablation surgeries for atrial fibrillation. Later, the woman was pregnant with her first child. She described that her pregnancy was possible because of the APN’s genetic proficiency and close supervision, education of other health care professionals participating in the woman’s prenatal care, and her direction and support throughout the pregnancy. In this family, the APN had prevented the premature death of many at risk family members by attending to and also inquiring into a family history over ten years (Calzone et al., 2010).

In preconception and prenatal backgrounds, nurses have a chance to help families ready for a child with a genetic situation. Congenital malformations are the main cause of infant death in the United States. A 48-year-old woman recollected her episodes with the birth and later death of her two children with distinctive chromosome disorders. She differed her fierce suffer with her first baby to her dramatically better encounter 10 years later with her second baby. When the woman was 30 years old, she got a call at work from the obstetrician’s office that her genetic screen was abnormal. A follow-up amniocentesis showed that her growing baby had Edwards syndrome. The woman selected to carry on her pregnancy. When her daughter was born, the mother felt very little assistance from the physicians and nurses. She described them as a task directed and very clinical. When she was released home with her baby the mother felt left behind by the health care system; her only contact with health care professionals being her baby’s pediatrician, who had never cared for a child with this disease during his 20 years of service. After around ten years, the woman got to be pregnant with her child. Because of her age and history of having a previous child with a chromosome disorder, as a reassurance, the woman selected to have an amniocentesis. However, the results showed she was pregnant with a male fetus who had Patau syndrome. In comparison to her preceding experience, she was directed to a pediatric hospice service. The nurses’ and physicians’ skill about Patau syndrome and the expected clinical course was reassured to the woman. The nurse made sure all labor and delivery, and postnatal staff were informed about Patau syndrome and aware of the expected birth as well as the plan for relief attention. The nurse kept up touch with the woman during the pregnancy and gave hospice care during the woman’s son’s 12-week life span (Calzone et al., 2010).


Evidence based practice in nursing is based on the idea that medical practices need to be adapted and amended based on the continuing cycle of evidence, theory and research. As the research continues new issues were found and theories are developed forcing changes in practice. Genetic engineering involves manipulation of the organism’s genome utilizing biotechnology. Nurses work close to the patient more than any other healthcare professional. Due to the same reason nurses could easily observe the changes in patients. Evidences show nurses who have the proper knowledge in genetics could save many lives and improve a patient’s quality of life. Therefore educating and training nurses and keeping them up-to-date with the latest technological advances will be an addition to the overall healthcare.


Calzone, K. A., Cashion, A., Feetham, S., Jenkins, J., Prows, C. A., Williams, J. K., & Wung, S. F. (2010). Nurses transforming health care using genetics and genomics. Nursing Outlook, 58(1), doi: 10.1016/j.outlook.2009.05.001

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Lea, D. H. (2008). Genetic and genomic healthcare: Ethical issues of importance to nurses. The Online Journal of Issues in Nursing, 13(1)

National Human Genome Research Institute. (2007, November). ELSI research program. Retrieved from

The Columbia Electronic Encyclopedia. (2013). Genetic engineering. Retrieved from manipulation