Pharmacogenomics

Question 1

An approach to disease treatment and prevention that takes in consideration genes, environment and life style.

Answer 1

Precision Medicine

Question 2

Pharmacogenomics vs. Pharmacogenetics

Answer 2

Pharmacogenomics: a component of precision medicine, studies variation in multiple genes.

Pharmacogenetics: studies variation in a single gene.

Question 3

Genotype

Answer 3

Set of unique genes that determine a SPECIFIC TRAIT in a person. (Creativity)

Question 4

Phenotype

Answer 4

OBSERVABLE trait of genotype.

Question 5

Chromosome Double Helix

Answer 5

Nucleotides → Gene (code for a specific protein) → DNA → Chromosome

Question 6

Genetic variation is common, 1% or more. It is inherited.

Answer 6

Polymorphism.

Question 7

Genetic variation is rare, <1%.

Answer 7

Mutation.

Question 8

Change in a single nucleotide in a genetic sequence.

Answer 8

Single Nucleotide Polymorphism (SNPs)

Question 9

HLA-B (5701)

Answer 9

Abacavir—Positive: Avoid. (Hypersensitivity reactions)

Question 10

HLA-B (5801)

Answer 10

Allopurinol—Positive: Avoid. (Hypersensitive reactions)

Question 11

HLA-B (1502)

Answer 11

Carbamazepine, Oxcarbazepine, Phenytoin and Fosphenytoin.

Question 12

CYP2C19 Polymorphism

Answer 12

• Clopidogrel
• Voriconazole
• Omeprazole (and other PPIs)
• Diazepam
• Citalopram and Escitalopram

Question 13

CYP2C9 Polymorphism

Answer 13

• Warfarin (And VKORC as well)
• NSAIDs
• Sulfonylureas
• Losartan (ARB)
• Phenytoin (AED)

Question 14

CYP2D6 and Polymorphism

Answer 14

• Opioids: Hydrocodone, Oxycodone, Tramadol and especially CODEINE
• SSRIs: Fluoxetine and Paroxetine
• Antipsychotics: Risperidone, Aripiprazole and Haloperidol
• Tamoxifen (prodrug)
• Dextromethorphan