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EP is a 28-year-old patient who presents to the clinic complaining of “feeling down”. They have gained 15 pounds during the last year, complain of not having any energy and difficulties falling asleep. The attending clinician diagnoses them with depression and wants to prescribe the antidepressant paroxetine (an SSRI (selective serotonin reuptake inhibitor)). They ask you as the pharmacist about pharmacogenomic considerations. You consult the CPIC (Clinical Pharmacogenetics Implementation Consortium) guidelines and find that variations in CYP2D6 can influence the metabolism of paroxetine. Paroxetine is metabolized by CYP2D6 to compounds with little pharmacological activity. You find the following information in the table (through the CPIC guidelines) Q.1 What does the *1 nomenclature signify? A- Only 1% of the population have this genotype B- Normal or reference genotype C- No enzymatic function is associated with this genotype Q.2 What does this designation tell you: *4/*10 A- Haploid, homozygous B- Haploid, heterozygous C- Diploid, homozygous D- Diploid, heterozygous Q.3 CYP2D6*1E correspond to 1870T>C. This is an example of a(n): A- SNP B- Indel C- Copy number variation

EP is a 28-year-old patient who presents to the clinic complaining of “feeling down”. They have gained 15 pounds during the last year, complain of not having any energy and difficulties falling asleep. The attending clinician diagnoses them with depression and wants to prescribe the antidepressant paroxetine (an SSRI (selective serotonin reuptake inhibitor)). They ask you as the pharmacist about pharmacogenomic considerations. You consult the CPIC (Clinical Pharmacogenetics Implementation Consortium) guidelines and find that variations in CYP2D6 can influence the metabolism of paroxetine. Paroxetine is metabolized by CYP2D6 to compounds with little pharmacological activity. You find the following information in the table (through the CPIC guidelines) Q.1 What does the *1 nomenclature signify? A- Only 1% of the population have this genotype B- Normal or reference genotype C- No enzymatic function is associated with this genotype Q.2 What does this designation tell you: *4/*10 A- Haploid, homozygous B- Haploid, heterozygous C- Diploid, homozygous D- Diploid, heterozygous Q.3 CYP2D6*1E correspond to 1870T>C. This is an example of a(n): A- SNP B- Indel C- Copy number variation

Phlebotomy Essentials
Phlebotomy Essentials
6th Edition
ISBN:9781451194524
Author:Ruth McCall, Cathee M. Tankersley MT(ASCP)
Publisher:Ruth McCall, Cathee M. Tankersley MT(ASCP)
Chapter1: Phlebotomy: Past And Present And The Healthcare Setting
Section: Chapter Questions
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EP is a 28-year-old patient who presents to the clinic complaining of “feeling down”. They have gained 15 pounds during the last year, complain of not having any energy and difficulties falling asleep. The attending clinician diagnoses them with depression and wants to prescribe the antidepressant paroxetine (an SSRI (selective serotonin reuptake inhibitor)). They ask you as the pharmacist about pharmacogenomic considerations. You consult the CPIC (Clinical Pharmacogenetics Implementation Consortium) guidelines and find that variations in CYP2D6 can influence the metabolism of paroxetine. Paroxetine is metabolized by CYP2D6 to compounds with little pharmacological activity.

 

You find the following information in the table (through the CPIC guidelines)

Q.1 What does the *1 nomenclature signify?

A- Only 1% of the population have this genotype

B- Normal or reference genotype

C- No enzymatic function is associated with this genotype

 

Q.2 What does this designation tell you: *4/*10

A- Haploid, homozygous

B- Haploid, heterozygous

C- Diploid, homozygous

D- Diploid, heterozygous

 

Q.3 CYP2D6*1E correspond to 1870T>C. This is an example of a(n):

A- SNP

B- Indel

C- Copy number variation

 

Table 1 Assignment of likely phenotypes based on diplotypes Table 1a Assignment of CYP2D6 predicted phenotypes Likely phenotype Activity score Genotypes Examples of CYP2D6 diplotypes Ultrarapid metabolizer > 2.0 An individual carrying duplications of functional alleles *1/*1xN, *1/*2xN, *2/*2×N° (~1-2% of patients)ª Extensive metabolizer 2.0-1.0° An individual carrying two normal function alleles or two *1/*1, *1/*2, *1/*4, *1/*5, *1/*9, *1/*41, *2/*2,*41/*41 (~77-92% of patients) decreased function alleles or one normal function and one no function allele or one normal function and one decreased function allele Intermediate metabolizer 0.5 An individual carrying one decreased function and one no function allele *4/*10, *4/*41, *5/*9 (~2-11% of patients) Poor metabolizers (~5-10% of patients) An individual carrying only no functional alleles *3/*4, *4/*4, *5/*5, *5/*6
Transcribed Image Text:Table 1 Assignment of likely phenotypes based on diplotypes Table 1a Assignment of CYP2D6 predicted phenotypes Likely phenotype Activity score Genotypes Examples of CYP2D6 diplotypes Ultrarapid metabolizer > 2.0 An individual carrying duplications of functional alleles *1/*1xN, *1/*2xN, *2/*2×N° (~1-2% of patients)ª Extensive metabolizer 2.0-1.0° An individual carrying two normal function alleles or two *1/*1, *1/*2, *1/*4, *1/*5, *1/*9, *1/*41, *2/*2,*41/*41 (~77-92% of patients) decreased function alleles or one normal function and one no function allele or one normal function and one decreased function allele Intermediate metabolizer 0.5 An individual carrying one decreased function and one no function allele *4/*10, *4/*41, *5/*9 (~2-11% of patients) Poor metabolizers (~5-10% of patients) An individual carrying only no functional alleles *3/*4, *4/*4, *5/*5, *5/*6
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