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Population Genetics
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POPULATION GENETICS 2
Question one
Atrial fabrication refers to a condition that normally disrupts the heart’s normal rhythm.
This condition can be inherited depending on the on the rate of dominance of the gene in an
individual. As such in some individuals the percentage of dominant genes might be higher than
in others. In a nutshell, other people might be having the dominant gene while others have the
recessive gene. Generally, this condition is usually as a result of changes in the KCNE2, KCNQ1
and KCNJ2 genes which are responsible for providing instructions for production of proteins
which act as channels for the cell membrane (Masuda & Shimizu, 2016).
Depending on the general body metabolism of an individual, the mutations rate of these
genes might vary. As such, this justifies the reason as to why the prescribed dosage of warfarin
(Coumadin) and other related drugs might vary despite the difference in other factors such as the
Body Mass Index (BMI). Nevertheless, when it comes to prescriptions related to genetic
complications not all patients have the same response to the same drug when administered at the
same dose.
Question two
To a larger extent, nurses play critical roles as far as fostering not only successful but
efficient patient and family engagement is concerned. As such, they usually ensure that whatever
assistance that they are going to offer it will be of help in making well-informed and competent
decisions by the patients and their families in relation to their health. Regardless of any form of
discrimination, nurses are expected to commit themselves fully towards patient engagement as it
is an essential activity towards the realization of patient-centered care (Carman et al., 2013).
As for the case of the patient who has been found with a mutation that is present in the
gene allele. This presence of the generalist nurse will be of high significance simply because of
various reasons. To begin with genomic care, the nurse will offer genomic care advice to the
patient and his or her family. Besides advising them, the nurse will offer basic knowledge on the
patterns of inheritance as far as the mutation in the gene is concerned (, n.d.). Through genetic
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counselling the nurse will be in a position of helping both the patient and the family members
understand the implication of the mutation. Although, patients are regarded as the ultimate
source of information on the status of their health, the presence of the nurse will fervently
contribute towards making decision on the best care that is to be taken. Last but not least, the
nurse will ensure that the patient is referred to genetic professionals and he or she will ensure
genetic mutations that predisposes them to health risks for colon cancer and they do not what
their health information to be shared with the family members proves to be a big challenge not
only to the nurses but other medical practitioners. In such a situation, the patient should be first
informed on the causes of the genetic mutation and the susceptibility of other family members
or her health information with other family members. Furthermore, since most of the genetic
mutations can be inherited, he or she should be highly advised on the importance of other family
members engaging in a screening or diagnosis test (McDaniel, Doherty & Hepworth, 2014).
Nonetheless, if the patient still resists information sharing with his or her family members, the
nurse can go ahead and inform the family members without the patient’s consent.
Question four
Population genetics tends to explore on various ways in which allele frequencies
contribute to some of the major changes in human population over time. As such, through
population genetics it has been established that species with a variation in the alleles have been
observed to having a larger genetic diversity (Ewens, 2012). Through population genetics,
individuals are in a position of understanding their ancestral origin, allele frequencies and
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heterozygosity among other factors. Moreover, it provides the relevant information that seeks to
explain the knowledge behind race and ethnicity in relation to high risk disorders and health
References
Carman, K. L., Dardess, P., Maurer, M., Sofaer, S., Adams, K., Bechtel, C., & Sweeney, J.
(2013). Patient and family engagement: a framework for understanding the elements and
https://ghr.nlm.nih.gov/condition/familial-atrial-fibrillation#genes
Masuda, S., & Shimizu, T. (2016). Three-dimensional cardiac tissue fabrication based on cell
http://www.genetics.org/content/200/3/667