Pharmacogenomics - Quiz 4 Flashcards
What is pharmacogenomics?
Examinign inherited variations in genes tat determine a patient’s response to a drug
* Personalizing medications
What is the difference between dominant and recessive traits?
Dominant: Requires one copy of the allele from one parent
Recessive: Requires 2 copies, one from each parent
What is DNA?
Genetic infom that has 2 long chains of nucleotides joined by H bonds and twisted into a double helix
What is a nucleotide?
Subunit of nucleic acids DNA and RNA
What are the purines?
Adenine and guanine
What are the pyrimidines?
Thymine, cytosine, uracil
What is a chromosone?
A tightly packed structure within the cell nucleus consisting ofDNA and proteins
What is a gene?
A specific sequence of nucleotides that code for a single protein
What is an allele?
Specific form of a gene that has a wild or variants
What is a genotype?
Unique genes that deterine specific traits in an individual
What is a phenotype?
An observable trait that is expressed
What is a halotype?
DNA variatons that exist on the same chromosone and are inherited together
What is polymorphism?
An inherited variation in the DNA sequene
What is the most common genetic alteration in DNA?
SNPs
What is a SNP?
Change in a single base pair in the genetic sequence
Describe the characteristics of poor metabolizers?
- No enzyme actvity
- Drug levels increase due to less metabolism
Describe the characteristics of normal metabolizers?
Fully functional enzyme activity that has expected drug response
What are the characteristics of ultrarapid and rapid metabolizers?
Higher enzyme activiy with a faster metabolism that causes drug levels to decrease
Genetic testing for Abacavir?
HLA-B*5701
Abacavir
Ziagen, Triumeq, Epzicom
Patients who test positive for HLA-B*5701 and recieves Abacavir?
Fatal hypersensitivity
Genetic testings for Allopurinol
HLA-B*5801
Allopurinol
Zyloprim, Aloprim
Patients who test positive for HLA-B*5801 and recieves Allopurinol?
SJS
Drugs that are impacted by HLA-B*1502
- Carbamazepine (Tegretol)
- Oxcarbazepine (Trileptal)
- Phenytoin (Dilantin)
- Fosphenytoin (Cerebyx)
Patients who test positive for HLA-B*1502 and recieves drugs impacted by gene?
SJS, TENS
Asians should be tested before getting carbamazepine
* Suggested for oxcarbazepine
* Optional for phenytoin, fosphenytoin
Drugs that require HLA tesing?
- Abacavir
- Allopurinol
- Carbamazepine
- Oxcarbazapine
- Phenytoin
- Fosphenytoin
Testing for Citalopram?
CYP2C19
Testing for codiene?
CYP2D6
Testing for warfarin?
CYP2C9*2 and *3, VKORC1
ultra metabolizers Patients who and recieve Codiene?
High risk for morphine toxicity
Patients who are poor metabolizers and receive clopidogrel?
Increased CV events due to inactivated drugs
Genetic testing for Trastuzumab?
HER2 negative should not use drug due to its uneffectiveness
- Requires the overexpression of HER2 to be effective
Genetic testing for Cetuximab?
If KRAS mutation is positive, drug should not be used
Genetic testing for AZA?
Low or absent TPMT can increase risk for myelosuppression
Genetic testing for capecitabine?
DPD deficiency can increase risk for toxicity
Trastuzamab
Herceptin
Cetuximab
Erbitux
Capecitabine
Xeloda
Azathioprine
Azasan, Imuran
Drugs where genetic testing is strongly recommended
- Abacavir
- Azathioprine
- Carbamazepine
- Cetuximab
- Trastuzumab
