Precision Medicine And Genomics Flashcards
Precision medicine define
Tailoring disease prevention and treatment that takes into account differences in people’s genes, environments, and lifestyles
New model for therapeutic development
Treatment is determined by key molecular “hubs” that must be targeted within the cells, and is only administered to patients whose tumuors are found to have those hubs
Umbrella trial
1 type of
Different genetic mutations
Consists of many small sub trials to test multiple drugs simultaneously in one large trial
Patients receive different targeting treatments matched to their genetic aberration
Basket trial
Involves patients with any cancer type but who share a genetic mutation
Allows testing of a new drug on multiple cancers at the same time
DNA sequencing process
Taking cells from a tissue/ blood sample and isolating DNA
DNA is cleaved/ cut and fragmented
Small fragments are amplified/copied over and over again, and then inserted into the DNA sequencer which reads the DNA letter by letter
Results analysed by bioinformatics
FGFR3 is involved in what type of cancer? And activates?
Bladder cancer
Activates FGFR
FGFR causes?
Achondroplasia, type of dwarfism
Bladder cancer drug has been tested in? And has it been effective?
Nice with achondroplasia, yes
Challenges in precision medicine
Can’t base precision medicine on one layer of cell regulation
Other factors: transcriptome, proteomics, epigenetic changes
If someone has multiple mutation, do you give them multiple drugs?
To target which mutation is themost potent
DNA sequencing reveals? Gene expression?
Just one single snap shot at the patient’s genetic portfolio, genes expression changes happening all the time in body
The precision medicine approach to disease treatment and prevention takes into account patients’ individual variability in which factors?
Genes, environment and lifestyle
Nb: With consideration of these factors, the precision medicine approach may be used to more accurately predict which treatment and prevention strategies will work in which groups of patients rather than one in which strategies are developed with less consideration for differences between patients.
Phase 1 clinical trials are traditionally designed to?
Investigate the safety, tolerability and pk of an IMP and this includes traditional first-in-human clinical trials
Phase 2 clinical trials are designed to?
explore efficacy and optimal dose for an IMP.
Phase 3 clinical trials are usually ?
randomised controlled trials to confirm efficacy and safety of an IMP.
