L4: Personalized Medicine Flashcards
What does Pharmacogenomics study?
Variations of DNA and RNA characteristics as related to drug response
Prediction and prevention of disease
Earlier detection -> prospect of new treatment options -> people make informed lifestyle choices -> reduce the growing burden of disease (particularly for long term conditions such as cardiovascular diseases, cancer, chronic respiratory diseases and diabetes)
What is Familial Hypercholesterolemia(FH)?
causes raised cholesterol and a risk of heart attack and other cardiac events in the under 50s.
It affects 1 in 250 people – but only 1 in 6 of these are diagnosed.
By systematically using both genetic and biochemical testing, FH can be identified -> inexpensive medicines from future problems
More Precise diagnoses
Knowledge of each individual’s complex molecular and cellular processes, informed by other clinical and diagnostic information -> fully understand the abnormal function and determine the true cause of the symptoms.
Full implementation of personalized medicine (6)
Risk assessment (genetic testing to reveal predisposition to disease)
Prevention (behavior/lifestyle/treat,ent intervention to prevent disease)
Detection (at the molecular level)
Diagnosis
Treatment
Management (active monitoring)
For how many percentage of cancer patients drugs are ineffective
75
For how many percentage of Alzheimer’s patients drugs are ineffective
70
For how many percentage of osteoporosis patients drugs are ineffective
52
For how many percentage of arthritis patients drugs are ineffective
50
For how many percentage of migraine patients drugs are ineffective
48
For how many percentage of diabetes patients drugs are ineffective
43
For how many percentage of cardiac arrhythmias patients drugs are ineffective
40
For how many percentage of asthma patients drugs are ineffective
40
For how many percentage of depression patients drugs are ineffective
38
Which types of cancer use tailored treatment on a genetic base?
Melanoma, leukemia, colon, brain, breast cancers
Targeted and personalized interventions
Move away from trial-and-error, optimal therapy first time round
Common and effective treatment to prevent blood clots
Warfarin
40-fold difference in dose
A more participatory role for patients
Discuss with patients information about individual genomic characteristics, lifestyle, environmental factors
preventative measures, lifestyle changes
Approach to analyze the DNA sequence of a genome
Genomics
Approach to analyze the genes that are being expressed at a given point
Transcriptomics
Approach to analyze the products of cellular metabolic processes
Metabolomics
Approach to analyze chemical modifications that attach to DNA to regulate gene expression
Epigenomics
Approach to analyze the composition, abundance, structure and function of the full set of proteins coded for by our genes
Proteomics
PD-L1 positive in immunohistochemistry
Brown
CD8 (CTL) high number in immunohistochemistry
Purple
What is PI3K composed of?
85-kDa regulatory subunit
110-kDa catalytic subunit
What does trastuzumab do?
Suppresses HER2 activity but does not inhibit heterodimerization
What does pertuzumab do?
Capability of binding to the extra cellular dimerization subdomain of the HER2 receptor, reducing HER2 intracellular signaling events by blocking heterodimerization with other HER receptors
What does lapatinib do?
By competing with ATP, small molecule TKI Lapatinib blocks HER2 signaling, preventing auto phosphorylation and subsequent downstream signaling events
