Week 1 Pharmacogenomics

Question 1
Before initiating abacavir for the newly diagnosed HIV-positive patient, the Nurse
The practitioner orders HLA-B5701 allele genetic testing. The HLA-B5701 test determines the
existence or absence of potential risk for detrimental side effects to abacavir. A negative result
implies that the patient does not have the HLA-B5701 gene variant, and the medication can be administered. However, the results here indicated that the patient carries the HLA-B5701
alleles. This implies that the patient carries a high risk of developing potentially life-threatening
reactions to the medication. This implies that the patient has a higher risk of hypersensitivity
reactions caused by abacavir. Considering this result, the Nurse Practitioner should not prescribe
abacavir for the patient and find a safe alternative medication. Even though it is possible that
some patients could experience side effects with abacavir even if their test results are negative
for HLA-B*5701 alleles, the health care provider should monitor the patients routinely for the
side effects. Some of the symptoms that NP could look for in these patients include skin rashes,
fever, nausea, diarrhea, vomiting, abnormal pain, and respiratory problems.
Question 2
For many years, antiplatelet agents such as clopidogrel have improved patient outcomes
in acute coronary syndromes. The anti-inflammatory effects and antithrombotic properties of
antiplatelet therapy have been instrumental in managing acute myocardial infarction (Layne, &
Ferro, 2017). The patient had suffered another acute myocardial infarction six months after the
antiplatelet therapy was prescribed, which implies that she developed a drug tolerance. Tolerance
refers to the declining response to a drug (Sarathy et al, 2018). Genetic testing helps identify the

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changes in chromosomes, proteins, or genes, which is substantial in confirming or ruling out a
suspected genetic condition, or the chances of passing or developing a genetic disorder (Layne,
& Ferro, 2017). For this patient, genetic testing would be necessary for determining the changes
in the receptors that might have caused drug tolerance and help in deciding a new prescription
for acute MI.
Question 3
The limitations for Pharmacogenomics Testing
First, different research studies have identified that due to unmeasured factors, only RCT
can effectively control the distortion in the measured effect (Zanger, 2010). Therefore, it is
impossible to completely rule out the non-causal explanations for the findings in experimental
studies of drug effects. Secondly, due to a large number of genes being evaluated in
pharmacogenomics testing, the probability of type II error is higher. The error infers false claims
of an association when the truth is an association does not exist.
Question 4
Ethical Concerns of Using Pharmacogenomics Testing
Some of the ethical concerns in pharmacogenomics testing include the use of genetic
information in pharmacogenomics research and genetic discrimination. For most research studies
that require genetic information, obtaining consent from the participants is usually unclear due to
a lack of standardization for dealing with disclosure. On the other hand, genetic discrimination
refers to the different treatment of patients based on their genetic information (Gershon, Alliey-
Rodriguez, & Grennan, 2014). For instance, in the 1970s, some state governments required
African Americans to undergo genetic testing for sickle cell anemia (Gershon, Alliey-Rodriguez,

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& Grennan, 2014). Consequently, insurers and employers used the information to discriminate
against the carriers and patents. The Genetic Information Nondiscrimination Act of 2008 (GINA)
is one of the efforts that have been put in place to protect Americans from genetic discrimination.

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References

Gershon, E. S., Alliey-Rodriguez, N., & Grennan, K. (2014). Ethical and public policy
challenges for pharmacogenomics. Dialogues in clinical neuroscience, 16(4), 567–574.
Layne, K., & Ferro, A. (2017). Antiplatelet Therapy in Acute Coronary Syndrome. European
cardiology, 12(1), 33–37. https://doi.org/10.15420/ecr.2016:34:2
Sarathy, J. P., Via, L. E., Weiner, D., Blanc, L., Boshoff, H., Eugenin, E. A., … & Dartois, V. A.
(2018). Extreme drug tolerance of Mycobacterium tuberculosis in caseum. Antimicrobial
agents and chemotherapy, 62(2).
Zanger U. M. (2010). Pharmacogenetics – challenges and opportunities ahead. Frontiers in
pharmacology, 1, 112. https://doi.org/10.3389/fphar.2010.00112