Pharmacogenomics 1 Flashcards
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.
B. Techniques were developed during the project that have assisted the clinical application of pharmacogenomics
Who uses pharmacogenomics the most?
Pharmacists (pharmacy students are the most educated about it)
What factors influence drug response?
Age Ethnicity Gender Underlying Disease Genetic Variation
There is a _____ inter-individual variation in drug therapy response.
large
What ethnicities are at a higher risk for a deadly skin reaction?
Carbamazepine - Chinese Haun
Bacyclir - Caucasian
What caused patients to develop hemolytic reactions to the antimalarial primaquine?
an inherited deficiency in Glucose-6-phosphate dehydrogenase (antioxidant) which caused the patients to develop dangerous levels of methemoglobinemia
What causes inter-individual differences in drug plasma concentrations?
Genetic variations in P450s and other drug-metabolizing enzymes. This may have serious implications for narrow therapeutic-index drugs.
What is pharmacogenetics?
The study of genetic causes of individual variations in drug response.
What is pharmacogenomics?
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)
Plavix doesn’t work in about 15 percent of people which causes the need for what?
The need to genotype people for 2C19
What is pharmacogenomics going to improve?
Improve drug response rate and minimize ADRs
What are the challenges of pharmacogenomics testing?
Access
Feasibility
Cost
Limited evidence
What may cause a doctor to not want to order pharmacogenomics testing?
Patients have high expectations
Providers lack evidence-based resources
Both have concerns of privacy issues
Why is pharmacogenomics valuable?
Potential to optimize drug therapy.
Personalize medicine using novel technologies
Optimize drug development
What is a variant?
The version of a gene variation that is not thought to be common.
What is a wildtype?
The version of a gene variation that is thought to be the most common
What is a polymorphism?
a variation in DNA sequence
rare variant present 1% of population
What complicates the picture of phenotype and genotype?
Many polymorphisms (variant locations) may be present in a single gene. Mots traits are multigenic, not monogenic.
What are the types of polymorphism?
SNP (Single nucleotide polymorphism)
More than one nucleotide change, or an entire gene insertion or deletion, or extra copies of a gene
What is an allele?
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.
What is a genotype?
Each individual carries 2 alleles of each gene.
The 2 alleles that any individual has represents his/her genotype.
What is a phenotype?
Any observable characteristic of an organism… morphology, development, biochemical, physical, or behavioral.
Results from expression of genes
May also be influenced by environmental factors.
What is a haplotype?
A set of alleles at multiple loci or areas of a gene that co-exist on the same chromosome.
What is linkage disequilibrium?
When a higher frequency of the set of alleles co-exist than would be predicted by random chance.
What is allelic frequency?
The relative frequency of an allele in a population. Usually expressed as a proportion or percentage.
What is genotype frequency?
The relative frequency of a genotype in a population. Usually expressed as a proportion or percentage.
What is Hardy Weinberg Equilibrium?
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.
