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Intro to Pharmacogenomics and Available Resources- Elchynski
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Terms in this set (10)
What are the characteristics of reactive testing?
-Ordering PGx testing at time of being prescribed
-Increased chance of reimbursement
-Potential risk of delay in treatment
-Single gene vs multigene cost
What are the characteristics of preemptive testing?
-Ordering PGx panel prior to therapy
-No delay in pharmacotherapy
-Incidental findings
-High initial cost
What does ADME stand for? Tell which fits in each category:
ABCB1 (Pgp)- Clopidogrel
OPRM1- Macrolide Antibiotics
CYP2C19- Omeprazole
ABCC2- Methotrexate
Absorption: ABCB1 (Pgp)- Clopidogrel
Distribution: OPRM1-Macrolide Antibiotic
Metabolism: CYP2C19- Omeprazole
Elimination ABCC2- Methotrexate
What is the nomenclature for CYP2D6*1
Superfamily= CYP
Family=2
Subfamily=D
Isoform= 6
Allele=*1
Define Linkage disequilibrium (LD).
Nonrandom association of alleles at different loci
Define Hardy-Weinberg Equilibrium (HWE).
Genetic variation in a population will remain constant in absence of disturbing factors (p2+2pq+q2=1)
Define Genome-Wide Association Study (GWAS)
Rapidly scanning markers across complete set of DNA to find genetic variations associated with a particular disease )a=0.05/k)
What information can you find on CPIC?
Guideline
Genes-drugs
What information can you find on PHARMGKB?
Prescribing info.
Drug label annotations
Clinical annotations
Varian annotations
Literature
Clinical annotations are grouped into levels of evidence. What is the order of evidence going from lowest to highest?
Level 4 (unsupported)
Level 3 (low)
Level 2 B (moderate)
Level 2 A (moderate)
Level 1 B (High)
Level 1 A (High)
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