Genetically Competent Care For Those With Chronic Illnesses –


Genetically Competent Care For Those With Chronic Illnesses

Genetically Competent Care For Those With Chronic Illnesses

Locate at least one scholarly journal article that discusses your subtopic (I have attached the required articles for this week you can choose from as well)

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-Identify your subtopic (Genetically competent care for those with chronic illness)and provide a brief summary of your journal article on how this topic relates to nursing practice.

-What is the nurse’s role in providing care in relation to your subtopic and the overarching theme of advocacy?

-What ethical implications should be considered with regard to genetics and genomics for nursing practice? Why?


A 3-paragraph (at least 350 words)

Be sure to use evidence from the readings and include in-text citations.

Utilize essay-level writing practice and skills, including the use of transitional material and organizational frames.

Avoid quotes; paraphrase to incorporate evidence into your own writing.

A reference list is required. Use the most current evidence (usually ≤ 5 years old).

G enetics is “the study ofheredity” (World HealthOrganization [WHO], 2002, para. 1), while genomics is defined as “the study of genes and their functions, and related techniques” (para. 2). An expanded definition of genomics indicates “genetics scruti- nizes the functioning and composi- tion of the single gene whereas genomics addresses all genes and their interrelationships in order to identify their combined influence on the growth and development of the organism” (WHO, n.d., para. 3). Population genetics explores trait changes in a population and poten- tial contributing factors (Gillespie, 2010). Phylogenetics is the study of evolutionary relatedness between organisms (Wiley & Lieberman, 2011). Genetically Competent Care For Those With Chronic Illnesses

Background The study of human genetics and

genomics is imperative because the leading causes of mortality in the United States all have a genetic component, including cancer, heart disease, and diabetes (Calzone et al., 2010). However, the study of genet- ics and genomics of pathogens also can have substantial impact on clin- ical practice. The study of patho – gens can help identify sources of infection and manage outbreaks of health care-associated infections (HAIs), one of the top 10 causes of death in the United States (Calfee, 2012; Peleg & Hooper, 2010). Approximately 5% of persons ad – mitted to hospitals develop HAIs;

these patients have prolonged hos- pitalization as well as increased morbidity and mortality (Calfee, 2012). A retrospective 5-year med- ical record review of unexplained hospital deaths in one health care institution determined 31% may be due to HAIs (Calfee, 2012; Morgan, Lomotan, Agnes, McGrail, & Roghmann, 2010). HAIs are also a tremendous financial burden to health care institutions. Scott (2009) estimated U.S. hospitals spend $28- $45 billion annually in direct med- ical costs for HAIs. These estimates do not include indirect costs, such as loss of productivity or associated costs incurred by patients or their family members (Calfee, 2012).

Despite awareness of antimicro- bial-resistant organisms and efforts to contain them, resistant strains are emerging and spreading. De – velopment of new antibiotics is not keeping pace with the spread of antimicrobial-resistant infection (ARI) (Kishony & Collins, 2014). Individuals who develop these in – fections are at risk for increased morbidity and mortality, including prolonged hospital stay, delayed

recovery, or recurrent infection (Neidell et al., 2012; Roberts et al., 2009). Methicillin-resistant Staph – ylococcus aureus alone causes more deaths annually in the United States (~19,000) than Parkinson’s disease, emphysema, homicide, and HIV/AIDS combined. In addition, the estimated annual cost of ARI to the U.S. health care system is $21- $34 billion (Infectious Diseases Society of America [IDSA], 2011). A number of factors may contribute to increased antimicrobial resist- ance: overprescription of antimicro- bial medications, overuse of empiric antimicrobial therapy, the majority of prescriptions for antimicrobial therapy being written by prescribers who are not infectious disease spe- cialists, use of antibiotics for self- limiting viral infections, and use of antibiotics in livestock feed (IDSA, 2011; Roberts et al., 2009). Strict adherence to guidelines for infec- tion control is a national priority to combat HAIs (Septimus et al., 2014). In addition, genomic analy- ses of bacteria can provide insight into sources of infection, character- istics of organisms, and how health

Alexandra Plavskin

Discussions of clinical genetics and genomics often focus on screen- ing for disease-causing genes in humans and the promise of target- ed therapies. Another important area of research is analysis of pathogen genomes. Genetics and genomics-based approaches, such as population genomics and phylogenetics, provide insight into mechanisms of resistance, sources of infections, and pathogen transmission routes.

Instructions for Continuing Nursing Education Contact Hours appear on page 95.


Genetically Competent Care For Those With Chronic Illnesses

March-April 2016 • Vol. 25/No. 292

care personnel can combat the spread of infections (Köser et al., 2012; Snitkin et al., 2012).

Genetics and Genomics of Pathogens

Several tools help researchers study genetics and genomics of pathogens. Whole genome sequen – cing (WGS) determines the entire sequence of an organism’s DNA. WGS of populations of bacteria allows researchers to study patterns of antibiotic resistance and patho gen transmission (Köser et al., 2012). Using population genetic approach- es, researchers can identify these pat- terns in large-scale studies of resist- ance following antibiotic adminis- tration across multiple pa tient cohorts. Alternatively, by construct- ing transmission maps, they can use genetic patterns in an infectious out- break to track patho gen transmis- sion in one health care institution. The contribution of genetics and genomics to the understanding of broad-scale spread of infections and individual patient-to-patient trans- mission is discussed. Possible influ- ence of population genetics and use of transmission maps on nursing practice also are discussed.

Population Genetics of Antibiotic Resistance

Population genetics studies found clarithromycin-resistant commensal bacteria persist in gastrointestinal (GI) flora years after completion of antibiotic therapy (Andersson & Hughes, 2010; Sjölund, Wreiber, Andersson, Blaser, & Engstrand, 2003). Commensal bacteria live in the GI system without causing adverse symptoms for the human host. Another study revealed amoxi cillin-resistant bacteria persist in oral cavities of children who have not taken amoxicillin in the past 3 months; some of those bacte- rial isolates were also resistant to erythromycin, penicillin, and tetra- cycline (Ready et al., 2004; Sommer & Dantas, 2011). These studies indi- cated antibiotic resistance can occur even if patients complete the entire antibiotic course and take the med- ication as directed. Pathogens can

also share virulence or resistance to antibiotics through transfer of genetic material between organisms (lateral gene transfer) (Harrison & Brockhurst, 2012; Smillie et al., 2011). Population genetics allows researchers and clinicians to identify patterns of prevalence and inci- dence in patho gens. Examples of these patterns include obtaining and harboring antibiotic-resistant bacteria months to years after taking antibiotics as prescribed, as well as bacterial ability to be resistant to several other antibiotics (Kritsotakis, Tsioutis, Roumbelaki, Christidou, & Gikas, 2011; Ready et al., 2004). Thus, previous antibiotic use may make patients more susceptible to antibiotic resistance against not only the prescribed antibiotic, but also other antibiotics. Nurses should include previous antibiotic use in the patient’s medication history. They also should monitor patients continuously for signs and symp- toms of infection, as previous antibi- otic use may influence effectiveness of other antibiotics. Genetically Competent Care For Those With Chronic Illnesses

Transmission Maps Another important application

of genome-sequencing technology is the use of transmission maps. Transmission maps attempt to iden- tify how infectious agents spread by documenting the pathogen’s gen – omic information, infected patients and their location, and/or any shared equipment. An outbreak of carbapenem-resistant Klebsiella pneumoniae in a National Institutes of Health Clinical Center promoted the use of whole genome bacterial sequencing and an algorithm to reconstruct the transmission of the infection (Snitkin et al., 2012). Researchers began by collecting iso- lates from multiple sites on the body of the patient initially identi- fied with the infection (index patient). They collected isolates from the groin, urine, and throat by using bronchoalveolar lavage. Cul – tures were collected from several locations because bacteria continu- ously evolve even when occupying one host. Therefore, bacteria in one anatomical region may differ genet- ically from bacteria in another loca-

tion. Researchers then collected samples from other patients and sequenced the bacterial genomes. The sequencing information was used to determine the evolutionary history of bacterial mutations, and was combined with epidemiologic information to construct a trans- mission map.

Phylogenetics, the study of evolu- tionary relatedness between organ – isms, is important when analyzing pathogen transmission because even small changes in genetic sequence provide a great deal of information (Sleator, 2013). Changes in genetic code, regardless of their effect on the organism, act as markers and can be used by researchers to trace the line- age of a pathogen. This process allows researchers to understand the spread of infections (see Figure 1). Identifying the gene sequence (via whole genome sequencing) then cre- ating a transmission map of the pathogen’s location and genetic changes can help researchers deter- mine who contracted the infection first and possibly where he or she contracted it (see Figure 2).

Genetic information can be used to identify unexpected modes of transmission when epidemiologic data are lacking, and can be used during outbreaks to guide infection control strategies. In the sample hypothetical transmission map in Figure 2, patient 1 was most likely the source of infection for patients 2 and 3. This conclusion is drawn from analysis of genetic mutations seen in Figure 1. This information would not be available solely from epidemiologic data. Figure 3 demon – strates patients 2 and 3 were in the Emergency Department (ED) simul- taneously. They may have shared equipment or were seen by the same health care providers, both possible sources for the spread of infection. Conversely, patients 1 and 3 were not on the same unit during their hospital stay, but genetic analysis indicated patient 3 was infected with a strain of bacte- ria from patient 1. This indicates a source of infection (equipment, staff person, or other patient) has yet to be identified and may contin- ue to spread the infection. Supple – Genetically Competent Care For Those With Chronic Illnesses

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