Guide to Pharmacogenetics & Introduction to TreatGxplus Designed and tested in Canada LifeLabs Genetics 1 Table of Contents Pharmacogenetics (PGx) ..................................................................................................................................................................4 1. Definition & role in personalized medicine ..........................................................................................................................................5 2. Types of genetic variations .........................................................................................................................................................................6 Single Nucleotide Polymorphisms ..........................................................................................................................................................6 Copy Number Variants .................................................................................................................................................................................6 Human Leukocyte Antigens .....................................................................................................................................................................6 3. Pharmacokinetic vs pharmacodynamic effects ................................................................................................................................7 Pharmacokinetics ..........................................................................................................................................................................................7 Pharmacodynamics ......................................................................................................................................................................................7 4. Commonly prescribed medications affected by PGx......................................................................................................................8 5. Who can benefit from pharmacogenetic testing? ............................................................................................................................9 6. Implementation in pharmaceutical care ............................................................................................................................................10 6.1. Benefits ............................................................................................................................................................................................11 6.2. Barriers ............................................................................................................................................................................................12 7. Literature and guidelines ..........................................................................................................................................................................14 2 LifeLabs Genetics Guide toTreatGxplus ............................................................................................................................................................................16 1. TreatGxplus pharmacogenetic test .........................................................................................................................................................17 1.1. Kit contents ....................................................................................................................................................................................17 1.2. Sample collection .........................................................................................................................................................................17 1.3. Patient account creation ..........................................................................................................................................................18 1.4. Healthcare provider account creation ................................................................................................................................18 1.5. Accepting patient invitations for corporate accounts .................................................................................................18 1.6. Lab technology ............................................................................................................................................................................19 1.7. Processing time ............................................................................................................................................................................19 1.8. Conditions covered by TreatGx ..............................................................................................................................................19 2. TreatGxplus pharmacogenetic report ....................................................................................................................................................20 2.1. Report overview ...........................................................................................................................................................................20 2.2. Medication summary..................................................................................................................................................................20 2.3. Medication report ........................................................................................................................................................................20 2.4. Levels of evidence .......................................................................................................................................................................21 2.5. Guidelines .......................................................................................................................................................................................21 2.6. Laboratory report ........................................................................................................................................................................21 3. TreatGx clinical decision support software ..................................................................................................................................22 3.1. Conditions .......................................................................................................................................................................................22 3.2. Patient factors ...............................................................................................................................................................................22 3.3. Medication options ......................................................................................................................................................................23 3.4. Drug-drug, drug-condition, drug-gene interactions .....................................................................................................23 3.5. Limitations ......................................................................................................................................................................................23 4. Comparison of TreatGxplus with other PGx testing services ......................................................................................................24 5. Support ............................................................................................................................................................................................................25 5.1. Resources ........................................................................................................................................................................................25 6. Patient communication & education ...................................................................................................................................................26 Frequently Asked Questions ..............................................................................................................................................................................28 References .................................................................................................................................................................................................................31 LifeLabs Genetics 3 Pharmacogenetics (PGx) 4 LifeLabs Genetics 1. Definition & role in personalized medicine Pharmacogenetics: how a single genetic variant influences medication response Pharmacogenomic: how all genes (the genome) influence medication response Personalized or ‘precision’ medicine involves using patient-specific information to tailor therapy, and incorporates many different patient factors, but usually refers to the use of genetic information. Pharmacogenetic information can help clinicians optimize medication selection, dose, treatment duration and avoid adverse drug reactions (Figure 1). In addition, pharmacogenetics can provide new insights into mechanisms of drug action and contribute to the development of new therapeutic agents.1 It has been suggested that pharmacogenetics should be integrated into clinical pharmacy practice through medication therapy management to improve the quality and safety of patient care.2 Figure 1. Effects of pharmacotherapy with and without pharmacogenetics3