Pharmacogenomics 1

Question 1

Why was the completion of the Human Genome Project important to the field of pharmacogenomics?
A. Because it was finished early
B. Techniques were developed during the project that have assisted the clinical application of pharmacogenomics
C. Because it make the world work on harmonization efforts.

Answer 1

B. Techniques were developed during the project that have assisted the clinical application of pharmacogenomics

Question 2

Who uses pharmacogenomics the most?

Answer 2

Pharmacists (pharmacy students are the most educated about it)

Question 3

What factors influence drug response?

Answer 3

Age
Ethnicity
Gender
Underlying Disease
Genetic Variation

Question 4

There is a _____ inter-individual variation in drug therapy response.

Answer 4

large

Question 5

What ethnicities are at a higher risk for a deadly skin reaction?

Answer 5

Carbamazepine - Chinese Haun

Bacyclir - Caucasian

Question 6

What caused patients to develop hemolytic reactions to the antimalarial primaquine?

Answer 6

an inherited deficiency in Glucose-6-phosphate dehydrogenase (antioxidant) which caused the patients to develop dangerous levels of methemoglobinemia

Question 7

What causes inter-individual differences in drug plasma concentrations?

Answer 7

Genetic variations in P450s and other drug-metabolizing enzymes. This may have serious implications for narrow therapeutic-index drugs.

Question 8

What is pharmacogenetics?

Answer 8

The study of genetic causes of individual variations in drug response.

Question 9

What is pharmacogenomics?

Answer 9

more broadly involves genome-wide analysis of the genetic determinant of drug efficacy and toxicity.
includes the use of genomics technologies (bioengineered proteins and gene therapy)

Question 10

Plavix doesn’t work in about 15 percent of people which causes the need for what?

Answer 10

The need to genotype people for 2C19

Question 11

What is pharmacogenomics going to improve?

Answer 11

Improve drug response rate and minimize ADRs

Question 12

What are the challenges of pharmacogenomics testing?

Answer 12

Access
Feasibility
Cost
Limited evidence

Question 13

What may cause a doctor to not want to order pharmacogenomics testing?

Answer 13

Patients have high expectations
Providers lack evidence-based resources
Both have concerns of privacy issues

Question 14

Why is pharmacogenomics valuable?

Answer 14

Potential to optimize drug therapy.
Personalize medicine using novel technologies
Optimize drug development

Question 15

What is a variant?

Answer 15

The version of a gene variation that is not thought to be common.

Question 16

What is a wildtype?

Answer 16

The version of a gene variation that is thought to be the most common

Question 17

What is a polymorphism?

Answer 17

a variation in DNA sequence

rare variant present 1% of population

Question 18

What complicates the picture of phenotype and genotype?

Answer 18

Many polymorphisms (variant locations) may be present in a single gene.
Mots traits are multigenic, not monogenic.

Question 19

What are the types of polymorphism?

Answer 19

SNP (Single nucleotide polymorphism)

More than one nucleotide change, or an entire gene insertion or deletion, or extra copies of a gene

Question 20

What is an allele?

Answer 20

The variant and wild type forms of a gene at a particular location on a chromosome. Each nucleotide base in the gene can be considered an allele. One allele is from you mother and one from your father.

Question 21

What is a genotype?

Answer 21

Each individual carries 2 alleles of each gene.

The 2 alleles that any individual has represents his/her genotype.

Question 22

What is a phenotype?

Answer 22

Any observable characteristic of an organism… morphology, development, biochemical, physical, or behavioral.
Results from expression of genes
May also be influenced by environmental factors.

Question 23

What is a haplotype?

Answer 23

A set of alleles at multiple loci or areas of a gene that co-exist on the same chromosome.

Question 24

What is linkage disequilibrium?

Answer 24

When a higher frequency of the set of alleles co-exist than would be predicted by random chance.

Question 25

What is allelic frequency?

Answer 25

The relative frequency of an allele in a population. Usually expressed as a proportion or percentage.

Question 26

What is genotype frequency?

Answer 26

The relative frequency of a genotype in a population. Usually expressed as a proportion or percentage.

Question 27

What is Hardy Weinberg Equilibrium?

Answer 27

Both the allele and genotype frequencies in a population remain constant from generation to generation unless specific influences are introduced. If not then you didn’t do a good job of selecting samples.