Genomic Medicine Flashcards
Human genome project
Research aimed at deciphering the chemical makeup of the entire human genome and record every gene in human beings
Genome sequencing methods
- Capillary Electrophoresis
- Next Generation Sequencing (NGS)
Whole genome sequencing
Method
-DNA shearing: cutting the DNA
-DNA bar coding: small pieces of DNA tags added
-DNA sequencing: The bar-coded DNA from multiple bacteria is combined and put in a DNA sequencer.
-Data analysis: Computers used to compare sequences
Whole genome sequencing
Genetic diagnostic use (benefit)
Helps doctors diagnose genetic diseases quickly
Genomic medicine
Opportunities
-Personalised treatment
-Early disease detection
-Pharmacogenomics
Genomic medicine
Barriers
-Cost
-Data interpretation challenges
-More clinical evidence needed
Pharmacogenetics
How does person genome affect these
-Adverse drug reactions
-Drug efficacy
-Variation in response
All 3 depend on a person’s genetic variation and:
-Rate at which the drug is metabolised
-Drug targets
-Signaling pathways
Personalised medicine
A medical model that aims to provide tailor-made prevention and treatment strategies for defined groups of individuals.
Drug Metabolism and Cytochrome P450
The process by which the body breaks down and eliminates medications. Cytochrome P450 (CYP) enzymes are a family of enzymes that play a crucial role in drug metabolism. They are primarily found in the liver
Example of personalised medicine
-Target therapies for specific cancer treatment
-Using tumor marker testing to help diagnose cancer
Normal metabolisers
People that have the typical or expected activity of drug-metabolizing enzymes. Their genetic variants do not significantly affect the metabolism of medications
Poor metabolisers
People that have reduced or no activity of a specific drug-metabolizing enzyme due to genetic variations in the corresponding gene. This leads to slower metabolism and decreased drug clearance (lower dose required)
Ultrafast metabolisers
People that have increased activity of a specific drug-metabolizing enzyme due to genetic variations. This leads to faster metabolism and rapid clearance of medications (higher dose required)
Monogenic Disease
A condition determined by the interaction of a single pair of genes
Complex disease
A disorder that comes from the contributions of multiple genomic variants and genes in conjunction with significant influences of the physical and social environment
