CM- DT pharmacogenomic testing

Question 1

When to test? (Pharmacogenetics)

Answer 1

Typical mendelian disease testing:

• conducted to find a molecular diagnosis for patients with a specific disesase phenotype
  
  • straight forward testing for known variant to explain a phenotype

Pharmacogenetics:

1. Before decision on drug dosing is made
2. after foccurence of an adverse drug event
3. test pre-emptively before information is needed
   
   • diplotype will inform possible phenotype

Question 2

Molecular methodology utilized in pharmacogenomics

Answer 2

• Discovery phase: Genome wide association studies (GWAS)
• Clinical testing: based on variant type
  
  • Genotyping assays: array or single allel specific assay
  • Sequencing assays: Sanger of NGS
  • Del/dup assays: microarray, fragment analysis, RT-pcr
• Genetic testing registry (GTR) exists to help ID testing

Question 3

Thearapeutic dose monitoring (TDM)

Answer 3

• might want to measure trophs and peaks
• want to measure after 3-5 halflives so drug has stabilized