Genetic and Genomic Education and Practice in Nursing
The Human Genome Project launched in 1990 and marked the start of an evolutionary change in healthcare. Medicine has made great advancements following the completion of the Human Genome Project (HGP) in 2003. In addition to these advancements, the scope of practice for nurses’ is continuously changing and expanding. There is a growing emphasis on genetic literacy in the nursing profession. In the era of personalized medicine, registered nurses are now expected to be knowledgeable and skilled in genetics and genomics, regardless of academic preparation. The American Nurses Association (ANA) and the International Society of Nursing Genetics (ISONG) have published collaborative resources defining
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Three years prior to the completion of the HGP, an education policy guideline discussed the need to incorporate genetics and genomics into nursing education and practice (Anderson, Alt-White, Schaa, Boyd, & Kasper, 2015). In 2012, a systematic review was published determining the perceived knowledge and actual knowledge of nurses in the workforce. Godino & Skirton concluded that “both perceived and actual knowledge of genetics was poor” (pg. 173) and the overall genetics education provided to these nurses was found to be low. Similarly, a 2012 survey discovered that 71% of practicing nurses understand the significance of genetics; however 81% had a fair or less than fair understanding of the relationship between common diseases and genetics. The survey also revealed that the nurses did not commonly utilize family history in practice; however they were open to further genomic education (Quigley, …show more content…
The goal of obtaining the genetic family history is to identify the potential risks for serious health conditions. Early identification of health risk’s can allow for a more individualized and focused nursing care plan, including lifestyle behavior modifications. The following are two brief examples that demonstrate the significance of gathering a detailed family history, matched with genetic knowledge:
• A nurse learns that a patient’s parent died at a young age from colon cancer. The nurse would recognize that the patient and any siblings are at risk for familial adenomatous polyposis, a familial cancer syndrome (Lea, Skirton, Read , & Williams, 2011).
• A patient is scheduled for surgery. The nurse knows surgery presents several immediate health risks. It would be important to question if there is any personal or family history of malignant hyperthermia (MH). Malignant hypothermia is a potentially fatal inheritable condition that a patient can present with following general anesthesia (Quigley,
This paper briefly touches on a case study by a nursing assistant student who is assisting with an anesthesiologist that she is shadowing. The student was asked to monitor vitals during a knee surgery. The patient was given Halothane and the surgery began. After two hours in surgery, the patient, who was a young athletic female named Sharon Riley, began to show signs of distress. This patient’s temperature elevated to 105 °F and pulse began to rise up to 120 bpm, and her blood pressure began to drop down to 60/56 mmHg. This triggers the monitors alarm because normal vitals for this patient were a temperature of 98.6 °F, 75 bpm pulse and blood pressure of 105/60 mmHg. This causes the doctors to react quickly and begin to assess what is wrong
ii. Hypothermia, defined as a core body temperature less than 36C, is a relatively common occurrence in the unwarmed surgical patient. A mild degree of perioperative hypothermia can be associated with significant morbidity and mortality. (Hart et al., 2011)
Intraoperative hypothermia has been associated with various adverse effects and is said to be preceding increased in-hospital morbidity and length of stay:
The ANA named 2015 the “Year of Ethics,” which is highly appropriate due to the ever changing advancements in genomics (http://www.nursingworld.org/MainMenuCategories/EthicsStandards/CodeofEthicsforNurses/Code-of-Ethics-For-Nurses.html). Ethics is a great concern regarding genetic testing because the testing may affect an individual’s quality of life. In the 5th vignette, Interpreting Risk: The Impact of Life Experience, we see the viewpoints of two female roommates. Lisa’s mother suffered from breast cancer and died at a young age. As a result, Lisa was left with the feeling that death from breast cancer is inevitable for her. Lisa wants to receive genetic testing and if she tests positive will not have children even though she wants children
Biological variations may seem to be the most intuitive practice for healthcare providers. However, the provider must not only observe but ask questions pertaining to one’s genetic history. Assessing patient genetic and family history is imperative to health risks, drug therapies, and presentation of illnesses. This includes an individual’s skin color, race, stature, and even psychological coping of illness (Sager, 2011).
In the course, we discussed different aspects of biology such as photosynthesis, evolution, and, most importantly, genetics. During this unit, my fascination with the inner working of the body increased exponentially. All I could think about was the relationship between gene mutations and diseases. Thoughts of alleles, DNA, and how mutations of them can wreak havoc on the body ran through my head during and after class each and every day. As I continued to learn more and more about genetics the realization came to me that I was meant to study the human genome. The strong feeling that it was also my calling to help those affected by the possible negative effects of gene mutation began to surface. However, as I began to delve into genetics I started to worry that there would not be a career available that would match the criteria I hoped that my future job would possess. As if my biology teacher, Mrs. Barro, knew of the turmoil running rampant inside of my head, days after these concerns first came to pass she gave a lecture during class about the careers that were available if we were to continue our education in the field of science. One of those careers was genetic counseling. After Mrs. Barro explained in class what the job entailed, I ran home and researched it for myself. Soon, I discovered that this career path was perfect for what I wanted to accomplish through
Family health history is a powerful tool for screening patients. Family nurses tracing the illnesses suffered by a patient’s family members can help predict the disorders patients and their families may be at risk for, and take appropriate action to help them maintain a healthy life. In this report I will complete a Genetic/Genomic Nursing Assessment on my friend and her family. I will discuss three generations of family members, identify health issues, and genetic traits. This report will contain the family’s ethnic background, reproductive history, and any growth and development variations. To further expand on this information I will evaluate my friend’s understanding, as well as her family, of their genetic health risks, identify health risk problems, and include nursing interventions. While most Americans have some degree of awareness regarding the importance of family heath history, most do not have a written profile, that being said, welcome to Patti’s genetic world.
The purpose of this paper is to complete a Genetic and Genomic Nursing Assessment to analyze family genetic health risks. Genomics is the study of genes in the human genome and their interactions with each other and the environment and genetics is the study of individual genes and their effect on clinical disorders (Kaakinen, Coehlo, Steele, Tabacco, & Hanson, 2015). Nurses should be able to perform an assessment of a family 's genetic health risks by using a three-generation family pedigree to obtain information regarding possible genetic inheritance pattern and recurrence risks. The family chosen for this paper has a history of chromosome balanced and unbalanced translocation. A balanced translocation is a chromosomal abnormality that if unbalanced (too much or too little genetic material) can lead to infertility, multiple miscarriages, or a child with congenital abnormalities, developmental issues, etc. A balanced translocation does not have a straightforward inheritance pattern. It depends on the chromosomes involved, if the carrier is a male versus female and how much genetic material is involved in the translocation itself.
The sequencing of the human genome has a new approach to health care in regards to promotion, maintenance, and treatment. Genetic research is defined as a new approach to a better understanding of the genetic components of common diseases: Cancer, diabetes, stroke, and creating new gene-based technologies for screening, prevention, diagnosis, and treatment of both rare and common diseases. Nurses are a main aspect within the first line of care, and therefore will contribute fully in genetic-based and genomic-based practice activities such as collecting family history, obtaining informed consent for genetic testing, and administering gene-based therapies. Lea, D, (January 31, 2008). My paper is based on an article Genomics in the public
Developments in genetics and genomics has been applied to the entire spectrum of health care and all health care professionals throughout the United States occupation of the role, regardless of the clinical professional or academic preparation. Nurses have an intimate knowledge of the family and community point of view of the patient; Understanding the biological basis; Gene / genome technology and information and experience; Technology, communications and coalition building; And most importantly, the trust of the public In order to for people to benefit from a wide range of gene / genome discoveries, nurses needs to identify family members at risk for the condition comprehensive genome influences get the history of the family in the development
In the health department genetics are very important. If your family has a history of a certain illness, like Huntington's disease which breaks down your brain over time, that would be something your doctors would like to know. There are a lot of genetic illnesses. To have one of these illnesses your parents or a parent must be a carrier or has the disease. Some of them are manageable, others are not.
Genetic and genomic variations are being taken into consideration when referring to nursing interventions for patients. In the discussion paper, “Individual Genetic and Genomic Variation: A New Opportunity for Personalized Nursing Interventions” by Munro (2014), the author examines the potential for genetic and genomic variations being incorporated into nursing interventions for patients. According to Tremblay and Hamet, “Genomics include interactions among genes, intergenic regions, epigenetic factors and environmental factors” (As cited in Munro, 2014, p. 36). The study of these genomics revealed that genomes are able to respond to environmental influences. Complicated genome-environmental interactions could be presented by cancer, diabetes
The developments of today’s medicines and genomics tools to help aid in preventing disease are nothing short of amazing. Although most diseases are drawn from interactions between multiple genes and environmental factors, the cornerstone for individualized disease prevention is at home. This cornerstone is the family’s health history (Gurrmacher, Collins, Carmona, 2004). Having knowledge of one’s family health history is significantly beneficial to living a mentally and physically healthy lifestyle. This awareness can help create stability in ones life and potentially avoid long-running family diseases’ such as heart disease, breast cancer, diabetes, depression, and many others. This is an extremely valuable tool to increase one’s wellness.
In addition, there are several polyposis disorders, colorectal cancers that are passed on via errors or mutations within the genetic code, that can also contribute to the development of colorectal cancer. Examples of polyposis disorders are familial adenomatous polyposis, turcot syndrome, attenuated familial adenomatous polyposis, and hyperplastic polyposis syndrome. On the other hand, non-polyposis disorders, or inherited colorectal cancers that affects organs such as the reproductive tract, digestive
Malignant hyperthermia is a relatively rare disease in India with very few case reports present in the literature in this regard. Malignant hyperthermia was brought into attention for anaesthetic world by deaths attributable to general anaesthetics in a family living in Melbourne, Australia [1]. Incidence of malignant hyperthermia during general anesthesia is estimated to