Pgx in practice

Question 1

Goal of Pgx

Answer 1

The goal of PGX in practice is to offer the right drug at the right time with the right dose to the right person

Question 2

Where pgx into drug therapy

Answer 2

Genetic polymorphisms: PK or PD

PK: ADME

PD: receptors, ion channels, enzymes, immune system

Question 3

Drug labeling

Answer 3

> 300 drugs have pharmacogenomic information in the labeling

Question 4

Hierarchy of SNPs

Answer 4

Identify a known SNP with a large clinical effect and adjust drug therapy or dosage

Genome wide screening (including variants of unknown significance) with bioinformatic prediction to adjust drug therapy or dosage

Question 5

Progression to the omics era

Answer 5

1. PGx
2. Proteomics
3. Metabolomics
4. Transcriptions
5. Microbiomics
6. Etc

Question 6

Personalized medicine

Answer 6

A form of medicine that uses information about a person’s genes, lifestyle, and environment to prevent, diagnose, and treat disease

Question 7

Barriers to personalized medicine

Answer 7

1. Drug-approval process
   -FDA requirements
   -Clinical practice guidelines
2. Traditional clinical practice models
   -Lack of incorporation of clinical guidelines
   -Lack of proof of value
3. Translating basic science to practice
   -lack of incorporation into clinical guidelines
4. Technology
   -cost/turnaround time are longer
   -clinicians cannot keep up with large amount of information

Question 8

Trial designs in precision medicine

Answer 8

1. Basket trials: match patients with rare mutations, regardless of tumor histology
2. Umbrella trials: investigational drug chosen based on PGX Biomarker

Question 9

Barrier 2 traditional practice model

Answer 9

Medical team lacks expertise

Traditional practice model leaves physicians and pharmacists to cover these areas

Question 10

Barrier 3 Translating basic science

Answer 10

1. Drug label
2. Clinical guidelines
3. Primary literature
4. CPIC: optimize drug therapy

Question 11

Barrier 4 Technology

Answer 11

Partial solution: clinical decision support systems are being integrated into clinical practice